Supplementary Table 1. List of the 35 Genes Involved in Astrocyte-Neuron Communication

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Supplementary Table 1. List of the 35 Genes Involved in Astrocyte-Neuron Communication

Supplementary Table 1. List of the 35 genes involved in astrocyte-neuron communication

Gene Symbol Transcript ID Gene Title CNTNAP2 NM_014141.5 contactin associated protein-like 2 DLG1 NM_004087.2 discs, large homolog 1 (Drosophila) DLG3 NM_021120.3 discs, large homolog 3 (Drosophila) DLG4 NM_001128827.1 discs, large homolog 4 (Drosophila) EFNA3 NM_004952.4 ephrin-A3 EPHA4 NM_004438.3 ephrin type-A receptor 4 GJA1 NM_000165.3 gap junction protein, alpha 1, 43kDa GJB6 NM_006783.4 gap junction protein, beta 6, 30kDa KCNN3 NM_002249.5 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 KCNN4 NM_002250.2 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 SLC12A2 NM_001046.2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2 SLC17A6 NM_020346.2 solute carrier family 17 (vesicular glutamate transporter), member 6 SLC17A7 NM_020309.3 solute carrier family 17 (vesicular glutamate transporter), member 7 SLC1A3 NM_004172.4 solute carrier family 1 (glial high-affinity glutamate transporter), member 3 SLC1A2 NM_004171.3 solute carrier family 1 (glial high-affinity glutamate transporter), member 2 SNTA1 NM_003098.2 syntrophin, alpha 1 STXBP1 NM_003165.3 syntaxin binding protein 1 AQP4 NM_001650.4 aquaporin 4 GLUL NM_002065.5 glutamate-ammonia ligase GRIA1 NM_000827.3; glutamate receptor, ionotropic, AMPA 1 GRM3 NM_000840.2 glutamate receptor, metabotropic 3 GRM5 NM_001143831.2 glutamate receptor, metabotropic 5 GRM8 NM_000845.2 glutamate receptor, metabotropic 8 GRIN1 NM_001185090.1 glutamate receptor, ionotropic, N-methyl D-aspartate 1 GRIN2A NM_000833.3 glutamate receptor, ionotropic, N-methyl D-aspartate 2A GRIN2B NM_000834.3 glutamate receptor, ionotropic, N-methyl D-aspartate 2B GRIN2C NM_000835.3 glutamate receptor, ionotropic, N-methyl D-aspartate 2C GRIN2D NM_000836.2 glutamate receptor, ionotropic, N-methyl D-aspartate 2D TGFBR1 NM_004612.2 transforming growth factor, beta receptor 1 TGFBR2 NM_003242.5 transforming growth factor, beta receptor 2 (70/80kDa) VAMP2 NM_014232.2 vesicle-associated membrane protein 2 (synaptobrevin 2) VAMP3 NM_004781.3 vesicle-associated membrane protein 3 ADK NM_006721.3 adenosine kinase SYT4 NM_020783.3 synaptotagmin IV ATP1A2 NM_000702.3 ATPase, Na+/K+ transporting, alpha 2 polypeptide Supplementary Table 2. Predicted deleterious non-coding variants identified in this study

Predicted effects on Class Gene Symbol Transcript ID Transcript Variant protein function D GRIN2D NM_000836.2 c.-1115A>G promoter loss D GJB6 NM_006783.4 c.-296+55C>T; c.-186+55C>T; c.-186+867C>T; c.-647C>T promoter loss D GJB6 NM_006783.4 c.-246G>A; c.-356G>A; c.-186+752G>A; c.-762G>A promoter loss D DLG3 NM_021120.3 c.-389G>A promoter loss E VAMP2 NM_014232.2 c.*1248C>T microRNA-binding site E CNTNAP2 NM_014141.5 c.*1114A>G microRNA-binding site E DLG1 NM_004087.2 c.*289_*290insGTTT miRNA-binding site E GRM5 NM_001143831.2 c.-274C>A; promoter loss E GRM5 NM_001143831.2 c.-275A>T promoter loss E GRM5 NM_001143831.2 c.*3662G>C microRNA-binding site E GRIA1 NM_000827.3; c.-264C>T promoter loss E GRIN2A NM_000833.3 c.-209-277C>A promoter loss E GRIN2A NM_000833.3 c.-209-61A>C promoter loss E GRIN2A NM_000833.3 c.-210+168C>T promoter loss F DLG4 NM_001128827.1 c.-456C>T; c.132-817G>A; c.-983G>A; c.-680G>A promoter loss F DLG4 NM_001128827.1 c.132-1064G>A; c.-927G>A; c.-1230G>A; c.-209C>T promoter loss F DLG4 NM_001128827.1 c.132-613C>T; c.-660G>A; c.-476C>T; c.-779C>T promoter loss F DLG4 NM_001128827.1 c.159+21G>A; c.131+402C>T; c.-1073G>A promoter loss F DLG4 NM_001128827.1 c.-1319A>G; c.118+75A>G; c.131+648T>C promoter loss F ADK NM_006721.3 c.65+33C>T promoter loss F ADK NM_006721.3 c.-82G>C; c.-572C>G; c.-446C>G promoter loss F AQP4 NM_001650.4 c.-39G>A encode TFBS F DLG3 NM_021120.3 c.986-115A>G; c.-870A>G promoter loss F GLUL NM_002065.5 c.-399G>C encode TFBS F GLUL NM_002065.5 c.-634T>C encode TFBS F GRIN2A NM_000833.3 c.-210+52delG promoter loss F GRIN2A NM_000833.3 c.-19+36G>A encode TFBS F GRM8 NM_000845.2 c.-666C>A promoter loss E GRM8 NM_000845.2 c.-311-83delTinsTT; promoter loss F GRM8 NM_000845.2 c.-311-83delT promoter loss F KCNN3 NM_002249.5 c.933+9218G>A; c.-102G>A encode TFBS F KCNN3 NM_002249.5 c.-116A>G; c.933+9204A>G encode TFBS F KCNN3 NM_002249.5 c.-134T>G; c.933+9186T>G encode TFBS F SLC17A6 NM_020346.2 c.-429G>A promoter loss F SLC1A2 NM_004171.3 c.*107A>G microRNA-binding site F TGFBR2 NM_003242.5 c.*1809A>G microRNA-binding site

encode TFBS= encoding a transcription factor binding site Supplementary Table 3. List of variants identified in this study and falling in groups 3 and 4

Class Gene Symbol Transcript ID Transcript Variant Predicted effects on protein function

G ADK NM_006721.3 c.1088G>A p.*363*

G AQP4 NM_001650.4; c.819A>G p.T273T

G ATP1A2 NM_000702.3 c.1474G>A p.E492K

G CNTNAP2 NM_014141.5 c.2855G>A p.R952K

G DLG1 NM_004087.2 c.2044C>T p.R682C

G DLG3 NM_021120.3 c.429C>T p.F143F

G DLG4 NM_001128827.1 c.1731C>T p.Y577Y

G DLG4 NM_001128827.1 c.2143G>A p.V715I

G EPHA4 NM_004438.3 c.2526G>A p.R842R

G GJA1 NM_000165.3 c.411C>T p.Y137Y

G GRIA1 NM_000827.3; c.81C>A p.I27I

G GRIA1 NM_000827.3; c.707T>C p.M236T

G GRIN1 NM_001185090.1 c.1576C>T p.L526L

G GRIN2A NM_000833.3 c.447G>A p.A149A

G GRIN2A NM_000833.3 c.942C>T p.P314P

G GRIN2A NM_000833.3 c.939C>T p.I313I

G GRIN2A NM_000833.3 c.2190C>T p.Y730Y

G GRIN2A NM_000833.3 c.3246C>T p.T1082T G GRIN2B NM_000834.3 c.1341C>T p.D447D

G GRIN2D NM_000836.2 c.1629C>T p.N543N

G GRM8 NM_000845.2 c.1641G>A p.Q547Q

G GRM8 NM_000845.2 c.1833A>T p.T611T

G GRM8 NM_000845.2 c.357C>T p.F119F

G KCNN3 NM_002249.5 c.1041C>T p.I347I

G KCNN4 NM_002250.2 c.192G>A p.T64T

G SLC12A2 NM_001046.2 c.2748A>T p.G916G

G SLC17A6 NM_020346.2 c.672C>T p.A224A

G SLC1A3 NM_004172.4 c.188T>C p.I63T

G SLC1A3 NM_004172.4 c.1589A>G p.N530S

G TGFBR1 NM_004612.2 c.457G>A p.V153I

G TGFBR2 NM_003242.5 c.374delA p.K128fs

G TGFBR2 NM_003242.5 c.1062C>T p.L354L

G VAMP2 NM_014232.2 c.252C>T p.L84L

G VAMP2 NM_014232.2 c.160C>T p.L54L

H AQP4 NM_001650.4; c.775A>G p.K259E

H CNTNAP2 NM_014141.5 c.2719A>C p.K907Q

H CNTNAP2 NM_014141.5 c.3345C>A p.V1115V H DLG3 NM_021120.3 c.1638A>C p.A546A

H DLG3 NM_021120.3 c.1635G>A; p.Q545Q

H EPHA4 NM_004438.3 c.450T>C p.A150A

H EPHA4 NM_004438.3 c.57T>G p.A19A

H GJA1 NM_000165.3 c.112G>A p.G38R

H GJA1 NM_000165.3 c.98G>A p.R33Q

H GJA1 NM_000165.3 c.119C>T p.A40V

H GJA1 NM_000165.3 c.113G>A p.G38E

H GJA1 NM_000165.3 c.372C>G p.D124E

H GJA1 NM_000165.3 c.443G>A p.R148Q

H GJB6 NM_006783.4 c.168G>A p.L56L

H GRIN1 NM_001185090.1 c.243C>A p.D81E

H GRIN2A NM_000833.3 c.2788C>G p.L930V

H GRIN2A NM_000833.3 c.2181T>C p.A727A

H GRIN2B NM_000834.3 c.75A>C p.R25S

H GRIN2C NM_000835.3 c.3398A>C p.Q1133P

H GRIN2C NM_000835.3 c.1494G>A p.V498V

H GRIN2D NM_000836.2 c.2034C>T p.A678A

H KCNN3 NM_002249.5 c.558G>A p.K186K H KCNN3 NM_002249.5 c.680A>G p.N227S

H KCNN3 NM_002249.5 c.108_110dupGCA p.37_38insQ

H KCNN4 NM_002250.2 c.427G>A p.G143R

H SLC17A6 NM_020346.2 c.1106T>C p.I369T

H SLC17A7 NM_020309.3 c.1528T>C p.F510L

H SLC17A7 NM_020309.3 c.947G>A p.W316*

H SLC17A7 NM_020309.3 c.926T>G p.V309G

H SLC17A7 NM_020309.3 c.929C>G p.A310G

H SLC1A3 NM_004172.4 c.1359T>C p.I453I

H STXBP1 NM_003165.3 c.1170C>T p.I390I

H TGFBR1 NM_004612.2 c.1319A>G p.E440G

I ADK NM_006721.3 c.705T>C p.D235D

I AQP4 NM_001650.4; c.201G>T p.P67P

I AQP4 NM_001650.4; c.492G>A p.L164L

I AQP4 NM_001650.4; c.366G>A p.Q122Q

I ATP1A2 NM_000702.3 c.2259C>T p.A753A

I ATP1A2 NM_000702.3 c.1119G>A p.S373S

I ATP1A2 NM_000702.3 c.1704C>T p.F568F

I CNTNAP2 NM_014141.5 c.2280A>G p.S760S I CNTNAP2 NM_014141.5 c.1659G>A p.A553A

I CNTNAP2 NM_014141.5 c.3723G>A p.A1241A

I DLG1 NM_004087.2 c.2721A>G p.K907K

I DLG1 NM_004087.2 c.419A>G p.K140R

I DLG1 NM_004087.2 c.1998T>G p.D666E

I DLG4 NM_001128827.1 c.1437C>T p.T479T

I DLG4 NM_001128827.1 c.1158C>T p.I386I

I EPHA4 NM_004438.3 c.1875A>G p.K625K

I EPHA4 NM_004438.3 c.2880G>A p.T960T

I GJA1 NM_000165.3 c.717G>A p.R239R

I GRIA1 NM_000827.3; c.531T>C p.I177I;

I GRIN1 NM_001185090.1 c.918G>A p.V306V

I GRIN1 NM_001185090.1 c.1611G>A p.P537P

I GRIN1 NM_001185090.1 c.852A>G p.P284P

I GRIN2A NM_000833.3 c.1275G>A p.L425L

I GRIN2A NM_000833.3 c.2085G>C p.R695R

I GRIN2B NM_000834.3 c.2514C>T p.C838C

I GRIN2B NM_000834.3 c.1806C>T p.I602I

I GRIN2B NM_000834.3 c.4197T>C p.H1399H I GRIN2B NM_000834.3 c.4218C>T p.F1406F

I GRIN2B NM_000834.3 c.2664C>T p.T888T

I GRIN2B NM_000834.3 c.366C>G p.P122P

I GRIN2B NM_000834.3 c.3534C>T p.H1178H

I GRIN2C NM_000835.3 c.99C>T * p.A33A

I GRIN2C NM_000835.3 c.3145_3146insCCCCGGAGC p.1048_1049insPPE

I GRIN2C NM_000835.3 c.3627G>T p.R1209S

I GRIN2C NM_000840.2 c.3538G>C p.G1180R

I GRIN2D NM_000836.2 c.1449C>T p.C483C

I GRM3 NM_000840.2 c.879C>T p.A293A

I GRM3 NM_000840.2 c.1424G>A p.G475D

I GRM3 NM_000840.2 c.2400G>A p.T800T

GRM5-AS1; I NM_001143831.2 c.3375A>C p.G1125G GRM5

I GRM8 NM_000845.2 c.1085T>A p.F362Y

I GRM8 NM_000845.2 c.693T>C p.G231G

I KCNN3 NM_002249.5 c.1092G>C p.L364L

I KCNN3 NM_002249.5 c.1047T>C p.N349N

I SLC12A2 NM_001046.2 c.1191A>G p.E397E I SLC17A7 NM_020309.3 c.1560C>T p.D520D

I SLC1A2 NM_004171.3 c.1221A>G p.V407V

I SLC1A2 NM_004171.3 c.603G>A p.P201P

J ADK NM_006721.3; c.*375A>G Unclear

J AQP4 NM_001650.4; c.*3266G>C Unclear

J AQP4 NM_001650.4; c.*3568G>C Unclear

J AQP4 NM_001650.4; c.*884C>T Unclear

J ATP1A2 NM_000702.3 c.1216+14C>G Unclear

J ATP1A2 NM_000702.3 c.1827+134A>G Unclear

J CNTNAP2 NM_014141.5 c.*2461G>A Unclear

J CNTNAP2 NM_014141.5 c.*3328G>A Unclear

J CNTNAP2 NM_014141.5 c.*5148G>A Unclear

J CNTNAP2 NM_014141.5 c.1499-64C>T Unclear

J CNTNAP2 NM_014141.5 c.551-11T>G Unclear

J CNTNAP2 NM_014141.5 c.940-28G>A Unclear

J DLG1 NM_004087.2 c.*1407insACAG Unclear

J DLG1 NM_004087.2 c.*1531A>G Unclear

J DLG1 NM_004087.2 c.*686C>G Unclear

J DLG1 NM_004087.2 c.2198-46A>G Unclear J DLG1 NM_004087.2 c.2146+10T>C Unclear

J DLG3 NM_021120.3 c.*1768T>A Unclear

J DLG4 NM_001128827.1 c.1583-38C>G Unclear

J DLG4 NM_001128827.1 c.1506+30G>A Unclear

J DLG4 NM_001128827.1 c.150+61G>A Unclear

J DLG4 NM_001128827.1 c.778+31A>G Unclear

J DLG4 NM_001128827.1 c.779-49G>A Unclear

J EFNA3 NM_004952.4 c.586+52G>A Unclear

J EPHA4 NM_004438.3 c.*2315A>G Unclear

J EPHA4 NM_004438.3 c.1318+37G>A Unclear

J EPHA4 NM_004438.3 c.2346+20T>A Unclear

J GJA1 NM_000165.3 c.-16-12T>A Unclear

GJB6 NM_006783.4 c.-296+269G>A; c.-186+269G>A; Unclear J c.-433G>A; c.-186+1081G>A

J GJB6 NM_006783.4 c.*714C>T Unclear

J GLUL NM_002065.5 c.-14+905T>C Unclear

J GLUL NM_002065.5 c.*1762A>G Unclear

J GLUL NM_002065.5 c.*2074G>A Unclear

J GLUL NM_002065.5 c.603+5G>A Unclear J GLUL NM_002065.5 c.803+107A>G Unclear

J GRIA1 NM_000827.3; c.*1252A>C Unclear

J GRIA1 NM_000827.3; c.1824-98C>T Unclear

J GRIN1 NM_001185090.1 c.1260+27T>G Unclear

J GRIN1 NM_001185090.1 c.570+10G>A Unclear

J GRIN1 NM_001185090.1 c.634-30C>T Unclear

J GRIN2A NM_000833.3 c.*2774insA Unclear

J GRIN2A NM_000833.3 c.*2774insAA Unclear

J GRIN2A NM_000833.3 c.*2774insAAAA Unclear

J GRIN2A NM_000833.3 c.*5045T>A Unclear

J GRIN2A NM_000833.3 c.*5740A>C Unclear

J GRIN2A NM_000833.3 c.*5788_*5789delAA Unclear

J GRIN2A NM_000833.3 c.*5789delAA Unclear

J GRIN2A NM_000833.3 c.*6444G>A Unclear

J GRIN2A NM_000833.3 c.*6661G>A Unclear

J GRIN2A NM_000833.3 c.*7293_*7293delT Unclear

J GRIN2A NM_000833.3 c.1123-39G>A Unclear

J GRIN2B NM_000834.3 c.*567A>C Unclear

J GRIN2B NM_000834.3 c.*678G>A Unclear

J GRIN2B NM_000834.3 c.1329-32G>T Unclear J GRIN2B NM_000834.3 c.1654+24A>G Unclear

J GRIN2B NM_000834.3 c.1654+78C>G Unclear

J GRIN2B NM_000834.3 c.2010+54T>C Unclear

J GRIN2B NM_000834.3 c.412-84G>C Unclear

J GRIN2C NM_000835.3 c.999-124A>G Unclear

J GRIN2D NM_000836.2 c.-27+54T>A Unclear

J GRIN2D NM_000836.2 c.1862-69_1862-68delTT Unclear

J GRM3 NM_000840.2 c.-140-99T>C Unclear

J GRM3 NM_000840.2 c.*296C>A Unclear

J GRM3 NM_000840.2 c.*297delA Unclear

J GRM3 NM_000840.2 c.2566+68C>T Unclear

J GRM5 NM_001143831.2 c.*558C>T Unclear

J GRM5 NM_001143831.2 c.*732A>T Unclear

J GRM8 NM_000845.2 c.-175G>T Unclear

J GRM8 NM_000845.2 c.1358-4A>G Unclear

J KCNN4 NM_002250.2 c.1049+24C>T Unclear

J SLC12A2 NM_001046.2 c.1048+32A>G Unclear

J SLC12A2 NM_001046.2 c.2363+44G>A Unclear J SLC12A2 NM_001046.2 c.2616+72A>G Unclear

J SLC17A6 NM_020346.2 c.1175-26G>A Unclear

J SLC17A7 NM_020309.3 c.*675A>G Unclear

J SLC17A7 NM_020309.3 c.1151-21G>T Unclear

J SLC17A7 NM_020309.3 c.1151-8C>T Unclear

J SLC1A2 NM_004171.3 c.*3820A>G Unclear

J SLC1A2 NM_004171.3 c.*5396C>T Unclear

J SLC1A2 NM_004171.3 c.311-71T>C Unclear

J SLC1A3 NM_004172.4 c.*1381A>G Unclear

J SLC1A3 NM_004172.4 c.*231G>A Unclear

J SLC1A3 NM_004172.4 c.182-22_182-21delTT Unclear

J SLC1A3 NM_004172.4 c.182-22delT Unclear

J SLC1A3 NM_004172.4 c.319+113delA Unclear

J STXBP1 NM_003165.3 c.1702+28C>T Unclear

J SYT4 NM_020783.3 c.*2398T>G Unclear

J TGFBR1 NM_004612.2 c.*360A>G Unclear

J TGFBR1 NM_004612.2 c.*2093delT Unclear

J TGFBR1 NM_004612.2 c.*4493G>A Unclear

J TGFBR1 NM_004612.2 c.*1260G>A Unclear

J TGFBR1 NM_004612.2 c.*4498C>T Unclear J TGFBR2 NM_003242.5 c.*835C>A Unclear

J TGFBR2 NM_003242.5 c.94+16395T>C Unclear

J TGFBR2 NM_003242.5 c.*858C>T Unclear

J VAMP2 NM_014232.2 c.*410C>T Unclear

K ADK NM_006721.3; c.*114T>C Unclear

K ADK NM_006721.3; c.*558T>C Unclear

K ADK NM_006721.3; c.*581A>G Unclear

K ADK NM_006721.3; c.*691delCCCTGTGTACAG Unclear

K ADK NM_006721.3; c.727-19_727-18insT; Unclear

K AQP4 NM_001650.4; c.*1590A>G Unclear

K ATP1A2 NM_000702.3 c.*217A>G Unclear

K ATP1A2 NM_000702.3 c.*2259_*2260insA Unclear

K ATP1A2 NM_000702.3 c.*2261delA Unclear

K ATP1A2 NM_000702.3 c.496-28T>C Unclear

K CNTNAP2 NM_014141.5 c.*1603delA Unclear

K CNTNAP2 NM_014141.5 c.*163_*164insAA Unclear

K CNTNAP2 NM_014141.5 c.*164insAA Unclear

K CNTNAP2 NM_014141.5 c.*165delA Unclear K CNTNAP2 NM_014141.5 c.*165delAinsAA Unclear

K CNTNAP2 NM_014141.5 c.*2295A>G Unclear

K CNTNAP2 NM_014141.5 c.1670+36A>C Unclear

K CNTNAP2 NM_014141.5 c.209-12G>C Unclear

K CNTNAP2 NM_014141.5 c.2773+62_2773+63delAA Unclear

K CNTNAP2 NM_014141.5 c.2773+62_2773+64delAAA Unclear

K CNTNAP2 NM_014141.5 c.2773+63delA Unclear

K CNTNAP2 NM_014141.5 c.2773+64delA Unclear

K CNTNAP2 NM_014141.5 c.-279T>C Unclear

K CNTNAP2 NM_014141.5 c.-28T>C Unclear

K CNTNAP2 NM_014141.5 c.-341delT Unclear

K CNTNAP2 NM_014141.5 c.3716-6_3716-5insTCTG Unclear

K CNTNAP2 NM_014141.5 c.3716-6_3716-5insTG Unclear

K CNTNAP2 NM_014141.5 c.551-18_551-17delTT Unclear

K CNTNAP2 NM_014141.5 c.551-18_551-17insT Unclear

K CNTNAP2 NM_014141.5 c.551-18delT Unclear

K CNTNAP2 NM_014141.5 c.551-19_551-18insT Unclear

K DLG1 NM_004087.2 c.*416G>C Unclear

K DLG1 NM_004087.2 c.*5T>C Unclear K DLG1 NM_004087.2 c.1119+45G>A Unclear

K DLG1 NM_004087.2 c.2300-38_2300-37insT Unclear

K DLG1 NM_004087.2 c.2472+63G>A Unclear

K DLG3 NM_021120.3 c.*1329_*1329delT Unclear

K DLG3 NM_021120.3 c.*1329_*1329delTinsTT Unclear

K DLG3 NM_021120.3 c.*1329delT Unclear

K DLG3 NM_021120.3 c.*1329delTinsTT Unclear

K DLG3 NM_021120.3 c.*155_*156delTTinsT Unclear

K DLG3 NM_021120.3 c.*156_*156delT Unclear

K DLG3 NM_021120.3 c.*156delT Unclear

K DLG3 NM_021120.3 c.*156delTinsTT Unclear

K DLG3 NM_021120.3 c.*156delTinsTTT Unclear

K DLG3 NM_021120.3 c.*156delTTinsT Unclear

K DLG3 NM_021120.3 c.*1841delC Unclear

K DLG3 NM_021120.3 c.*2070A>T Unclear

K DLG3 NM_021120.3 c.*2631T>G Unclear

K DLG3 NM_021120.3 c.*764G>C Unclear

K DLG3 NM_021120.3 c.*976G>A Unclear

K DLG3 NM_021120.3 c.1973-117_1973-116insA Unclear K DLG3 NM_021120.3 c.1973-117delA Unclear

K DLG3 NM_021120.3 c.2146-103C>T Unclear

K DLG4 NM_001128827.1 c.*628delTTT Unclear

K DLG4 NM_001128827.1 c.*628delTTTinsT Unclear

K DLG4 NM_001128827.1 c.*628delTTTinsTT Unclear

K DLG4 NM_001128827.1 c.*629delTT Unclear

K DLG4 NM_001128827.1 c.*629delTTinsT Unclear

K DLG4 NM_001128827.1 c.1857+89_1857+90delCT Unclear

K DLG4 NM_001128827.1 c.1857+45C>A Unclear

K EFNA3 NM_004952.4 c.587-69_587-68insGCC Unclear

K EFNA3 NM_004952.4 c.587-73_587-72insGC Unclear

K EPHA4 NM_004438.3 c.*124_*124delA Unclear

K EPHA4 NM_004438.3 c.*124_*124delAinsAA Unclear

K EPHA4 NM_004438.3 c.*124delA Unclear

K EPHA4 NM_004438.3 c.*124delAinsAA Unclear

K EPHA4 NM_004438.3 c.*1475T>A Unclear

K EPHA4 NM_004438.3 c.160-86A>G Unclear

K GJA1 NM_000165.3 c.-80A>T Unclear

K GJA1 NM_000165.3 c.*1010_*1013delTTTT Unclear K GJA1 NM_000165.3 c.*1010_*1013delTTTTinsTTTTT Unclear

K GJA1 NM_000165.3 c.*1011_*1012insT Unclear

K GJA1 NM_000165.3 c.*1012insT Unclear

K GJA1 NM_000165.3 c.*1013delTTTT Unclear

K GJA1 NM_000165.3 c.*1328_*1332delTATTA Unclear

K GJA1 NM_000165.3 c.*1345G>A Unclear

K GJA1 NM_000165.3 c.*1392T>C Unclear

K GJA1 NM_000165.3 c.*1439C>T Unclear

K GJA1 NM_000165.3 c.*1463T>C Unclear

K GJA1 NM_000165.3 c.*561delTTTT Unclear

K GJA1 NM_000165.3 c.*764_*764delT Unclear

K GJA1 NM_000165.3 c.*764_*764delTinsTT Unclear

K GJA1 NM_000165.3 c.*764delT Unclear

K GJA1 NM_000165.3 c.*764delTinsTT Unclear

K GJB6 NM_006783.4 c.*201C>G Unclear

K GLUL NM_002065.5 c.-14+985C>T Unclear

K GLUL NM_002065.5 c.*2137G>T Unclear

K GRIA1 NM_000827.3; c.*1629G>A Unclear

K GRIA1 NM_000827.3; c.*227A>G Unclear K GRIA1 NM_000827.3; c.*519A>G Unclear

K GRIA1 NM_000827.3; c.2271-725delA; Unclear

K GRIN1 NM_001185090.1 c.2235-56delG Unclear

K GRIN1 NM_001185090.1 c.2652+1430A>C Unclear

K GRIN2A NM_000833.3 c.-18-117G>C Unclear

K GRIN2A NM_000833.3 c.*1432_*1432delT Unclear

K GRIN2A NM_000833.3 c.*1432delT Unclear

K GRIN2A NM_000833.3 c.*1432delTinsTT Unclear

K GRIN2A NM_000833.3 c.*1719C>T Unclear

K GRIN2A NM_000833.3 c.*2772delAAA Unclear

K GRIN2A NM_000833.3 c.*2772delAAAinsAAAA Unclear

K GRIN2A NM_000833.3 c.*2772delAAAinsAAAAAAA Unclear

K GRIN2A NM_000833.3 c.*2773delAA Unclear

K GRIN2A NM_000833.3 c.*2773delAAinsAAA Unclear

K GRIN2A NM_000833.3 c.*2773delAAinsAAAAA Unclear

K GRIN2A NM_000833.3 c.*2774delA Unclear

K GRIN2A NM_000833.3 c.*2774delAinsAA Unclear

K GRIN2A NM_000833.3 c.*2774delAinsAAA Unclear

K GRIN2A NM_000833.3 c.*2774delAinsAAAA Unclear K GRIN2A NM_000833.3 c.*2774delAinsAAAAA Unclear

K GRIN2A NM_000833.3 c.*2774insAAA Unclear

K GRIN2A NM_000833.3 c.*5112C>T Unclear

K GRIN2A NM_000833.3 c.*5746_*5746delA Unclear

K GRIN2A NM_000833.3 c.*5746delA Unclear

K GRIN2A NM_000833.3 c.*5788_*5789delAAinsA Unclear

K GRIN2A NM_000833.3 c.*5789delAAinsA Unclear

K GRIN2A NM_000833.3 c.*5789delAAinsAAA Unclear

K GRIN2A NM_000833.3 c.*5790_*5790delA Unclear

K GRIN2A NM_000833.3 c.*5790delA Unclear

K GRIN2A NM_000833.3 c.*5790delAinsAA Unclear

K GRIN2A NM_000833.3 c.*6846C>T Unclear

K GRIN2A NM_000833.3 c.*7292delTT Unclear

K GRIN2A NM_000833.3 c.*7292delTTinsT Unclear

K GRIN2A NM_000833.3 c.*7293delT Unclear

K GRIN2A NM_000833.3 c.*7293delTinsTT Unclear

K GRIN2A NM_000833.3 c.*7449C>A Unclear

K GRIN2A NM_000833.3 c.*7650delTAAGT Unclear

K GRIN2A NM_000833.3 c.*8362delT Unclear K GRIN2A NM_000833.3 c.*8362insT Unclear

K GRIN2A NM_000833.3 c.*854C>G Unclear

K GRIN2A NM_000833.3 c.*864C>G Unclear

K GRIN2A NM_000833.3 c.*866A>C Unclear

K GRIN2A NM_000833.3 c.*891C>T Unclear

K GRIN2A NM_000833.3 c.*9184A>G Unclear

K GRIN2A NM_000833.3 c.1007+123_1007+124insA Unclear

K GRIN2A NM_000833.3 c.1498-14delT Unclear

K GRIN2A NM_000833.3 c.1498-15_1498-14delTT Unclear

K GRIN2A NM_000833.3 c.1498-16_1498-14delTTT Unclear

K GRIN2A NM_000833.3 c.1498-17_1498-14delTTTT Unclear

K GRIN2A NM_000833.3 c.1498-34_1498-33delCT Unclear

K GRIN2A NM_000833.3 c.1498-35_1498-33delTCT Unclear

K GRIN2B NM_000834.3 c.-18-46C>T Unclear

K GRIN2B NM_000834.3 c.-18-87G>A Unclear

K GRIN2B NM_000834.3 c.-208delT Unclear

K GRIN2B NM_000834.3 c.-208delTinsTT Unclear

K GRIN2B NM_000834.3 c.*862T>C Unclear K GRIN2B NM_000834.3 c.1329-32delG Unclear

K GRIN2B NM_000834.3 c.2010+89A>G Unclear

K GRIN2B NM_000834.3 c.2011-88A>T Unclear

K GRIN2C NM_000835.3 c.1114-117T>G Unclear

K GRIN2D NM_000836.2 c.*812G>A Unclear

K GRIN2D NM_000836.2 c.1085+36C>T Unclear

K GRIN2D NM_000836.2 c.1582-60G>A Unclear

K GRIN2D NM_000836.2 c.1862-67delT Unclear

K GRIN2D NM_000836.2 c.1862-68delT Unclear

K GRIN2D NM_000836.2 c.1862-69_1862-67delTTT Unclear

K GRIN2D NM_000836.2 c.2252+69A>G Unclear

K GRM3 NM_000840.2 c.*284delA Unclear

K GRM3 NM_000840.2 c.*297delAA Unclear

K GRM3 NM_000840.2 c.*297delAAinsA Unclear

K GRM3 NM_000840.2 c.*314delAG Unclear

K GRM5 NM_001143831.2 c.-200-4delT; c.-204delT Unclear

K GRM5 NM_001143831.2 c.-200-4delTinsTT; c.-204delTinsTT Unclear

K GRM5-AS1; NM_001143831.2 c.*1334_*1335insA Unclear GRM5 K GRM5 NM_001143831.2 c.*2206C>T Unclear

K GRM5 NM_001143831.2 c.*2956G>T Unclear

K GRM5 NM_001143831.2 c.*3436A>C Unclear

K GRM5 NM_001143831.2 c.*3707delACTT Unclear

K GRM5 NM_001143831.2 c.*804insA Unclear

K GRM5 NM_001143831.2 c.1564-26delA Unclear

K GRM5 NM_001143831.2 c.2631-76A>G Unclear

K GRM8 NM_000845.2 c.*469C>A Unclear

K GRM8 NM_000845.2 c.*504G>A Unclear

K GRM8 NM_000845.2 c.*518A>G Unclear

K GRM8 NM_000845.2 c.1156+60T>C Unclear

K GRM8 NM_000845.2 c.1357+14T>C Unclear

K GRM8 NM_000845.2 c.2431-11_2431-10insT Unclear

K GRM8 NM_000845.2 c.2431-11delT Unclear

K GRM8 NM_000845.2 c.727+69T>A Unclear

K GRM8 NM_000845.2 c.728-12T>C Unclear

K KCNN3 NM_002249.5 c.933+9396C>T Unclear

K KCNN3 NM_002249.5 c.1448+67G>A Unclear

K KCNN4 NM_002250.2 c.159+59G>A Unclear

K KCNN4 NM_002250.2 c.159+72T>C Unclear K SLC12A2 NM_001046.2 c.*1501G>T Unclear

K SLC12A2 NM_001046.2 c.3435+19T>C Unclear

K SLC12A2 NM_001046.2 c.3436-23A>G Unclear

K SLC12A2 NM_001046.2 c.3504-34delT Unclear

K SLC12A2 NM_001046.2 c.3504-34_3504-33insT Unclear

K SLC17A6 NM_020346.2 c.1042-5A>G Unclear

K SLC17A7 NM_020309.3 c.*447C>A Unclear

K SLC17A7 NM_020309.3 c.435-142C>T Unclear

K SLC1A2 NM_004171.3 c.*1832C>T Unclear

K SLC1A2 NM_004171.3 c.*3239A>G Unclear

K SLC1A2 NM_004171.3 c.*355G>A Unclear

K SLC1A2 NM_004171.3 c.*4281delAinsAA Unclear

K SLC1A2 NM_004171.3 c.*4281delAinsAAA Unclear

K SLC1A2 NM_004171.3 c.*4281insA Unclear

K SLC1A2 NM_004171.3 c.*4516C>T Unclear

K SLC1A2 NM_004171.3 c.*4990T>C Unclear

K SLC1A2 NM_004171.3 c.*6267A>G Unclear

K SLC1A2 NM_004171.3 c.*701_*703delATT Unclear

K SLC1A2 NM_004171.3 c.*9374G>A Unclear K SLC1A2 NM_004171.3 c.*9393T>C Unclear

K SLC1A2 NM_004171.3 c.1653+60T>A Unclear

K SLC1A2 NM_004171.3 c.1653+72_1653+73delAA Unclear

K SLC1A2 NM_004171.3 c.1653+73_1653+74insAA Unclear

K SLC1A2 NM_004171.3 c.1653+73delA Unclear

K SLC1A2 NM_004171.3 c.18-5068T>G Unclear

K SLC1A2 NM_004171.3 c.562-53delT Unclear

K SLC1A2 NM_004171.3 c.561+79C>A Unclear

K SLC1A3 NM_004172.4 c.*1156delT Unclear

K SLC1A3 NM_004172.4 c.*161T>C Unclear

K SLC1A3 NM_004172.4 c.*1991A>G Unclear

K SLC1A3 NM_004172.4 c.181+595C>T Unclear

K SLC1A3 NM_004172.4 c.*612A>G Unclear

K SLC1A3 NM_004172.4 c.1094+22A>G Unclear

K SLC1A3 NM_004172.4 c.182-21_182-20insT Unclear

K SLC1A3 NM_004172.4 c.182-21delT Unclear

K SLC1A3 NM_004172.4 c.182-22_182-21insT Unclear K SLC1A3 NM_004172.4 c.182-7C>T Unclear

K SLC1A3 NM_004172.4 c.319+113_319+114delAA Unclear

K SLC1A3 NM_004172.4 c.319+113_319+114insA Unclear

K SLC1A3 NM_004172.4 c.319+121A>G Unclear

K SLC1A3 NM_004172.4 c.319+114delA Unclear

K SNTA1 NM_003098.2 c.1040+23T>C Unclear

K STXBP1 NM_003165.3 c.*878C>T Unclear

K STXBP1 NM_003165.3 c.87+19_87+20insA Unclear

K STXBP1 NM_003165.3 c.*743A>T; c.*842A>T Unclear

K SYT4 NM_020783.3 c.*566G>T Unclear

K SYT4 NM_020783.3 c.*759C>T Unclear

K SYT4 NM_020783.3 c.*1928delTTinsT Unclear

K SYT4 NM_020783.3 c.*1928delTT Unclear

K SYT4 NM_020783.3 c.*1927_*1928delTT Unclear

K SYT4 NM_020783.3 c.*1927_*1928delTTinsT Unclear

K TGFBR1 NM_004612.2 c.*4794delTTinsT Unclear

K TGFBR1 NM_004612.2 c.1387-25_1387-24insT Unclear

K TGFBR1 NM_004612.2 c.*4794delTinsTT Unclear

K TGFBR1 NM_004612.2 c.*4794delT Unclear K TGFBR1 NM_004612.2 c.*2082delT Unclear

K TGFBR1 NM_004612.2 c.*2103insTG Unclear

K TGFBR1 NM_004612.2 c.*2093delTinsTT Unclear

K TGFBR1 NM_004612.2 c.1387-25delT Unclear

K TGFBR1 NM_004612.2 c.*2106_*2106delG Unclear

K TGFBR1 NM_004612.2 c.*3517T>C Unclear

K TGFBR2 NM_003242.5 c.*2021T>A Unclear

K TGFBR2 NM_003242.5 c.*2240delTinsTT Unclear

K TGFBR2 NM_003242.5 c.*536C>T Unclear

K VAMP2 NM_014232.2 c.*896T>C Unclear

L ADK NM_006721.3; c.*648C>T Unclear

L ADK NM_006721.3; c.726+11T>G Unclear

L ADK NM_006721.3; c.727-11T>C; Unclear

L ADK NM_006721.3; c.727-19delT Unclear

L ADK NM_006721.3; c.726+40_726+43delTTTG; Unclear

L AQP4 NM_001650.4; c.*1080C>A Unclear

L AQP4 NM_001650.4; c.*1645G>C Unclear

L AQP4 NM_001650.4; c.*1896A>G Unclear

L AQP4 NM_001650.4; c.*2657A>G Unclear L AQP4 NM_001650.4; c.*3363G>A Unclear

L AQP4 NM_001650.4; c.*357G>A Unclear

L AQP4 NM_001650.4; c.*3788G>A Unclear

L AQP4 NM_001650.4; c.*588T>G Unclear

L AQP4 NM_001650.4; c.*630T>A Unclear

L AQP4 NM_001650.4; c.*963C>A Unclear

L AQP4 NM_001650.4; c.-39G>A Unclear

L AQP4 NM_001650.4; c.447+90T>C Unclear

L AQP4 NM_001650.4; c.694-66T>C Unclear

L ATP1A2 NM_000702.3 c.*1026A>G Unclear

L ATP1A2 NM_000702.3 c.*1629T>C Unclear

L ATP1A2 NM_000702.3 c.*2259T>A Unclear

L ATP1A2 NM_000702.3 c.*253C>T Unclear

L ATP1A2 NM_000702.3 c.*546G>A Unclear

L ATP1A2 NM_000702.3 c.*589G>C Unclear

L ATP1A2 NM_000702.3 c.*686G>A Unclear

L ATP1A2 NM_000702.3 c.*746C>T Unclear

L ATP1A2 NM_000702.3 c.*748C>T Unclear

L ATP1A2 NM_000702.3 c.1017+56G>A Unclear

L ATP1A2 NM_000702.3 c.13-14_13-11delCCTT Unclear L ATP1A2 NM_000702.3 c.13-22T>C Unclear

L ATP1A2 NM_000702.3 c.1326+48_1326+49insG Unclear

L ATP1A2 NM_000702.3 c.1461+91G>C Unclear

L ATP1A2 NM_000702.3 c.1652-11C>G Unclear

L ATP1A2 NM_000702.3 c.177+95T>C Unclear

L ATP1A2 NM_000702.3 c.2709+26G>A Unclear

L ATP1A2 NM_000702.3 c.2840+36G>A Unclear

L ATP1A2 NM_000702.3 c.2841-22_2841-21insC Unclear

L ATP1A2 NM_000702.3 c.2943-27G>C Unclear

L ATP1A2 NM_000702.3 c.2943-47C>G Unclear

L ATP1A2 NM_000702.3 c.3034+14C>T Unclear

L ATP1A2 NM_000702.3 c.3034+61G>A Unclear

L ATP1A2 NM_000702.3 c.3035-119A>G Unclear

L ATP1A2 NM_000702.3 c.381+16C>T Unclear

L ATP1A2 NM_000702.3 c.382-85G>A Unclear

L ATP1A2 NM_000702.3 c.495+65T>C Unclear

L ATP1A2 NM_000702.3 c.495+81T>A Unclear

L ATP1A2 NM_000702.3 c.495+96G>A Unclear L ATP1A2 NM_000702.3 c.630+123T>C Unclear

L ATP1A2 NM_000702.3 c.749-27C>A Unclear

L CNTNAP2 NM_014141.5 c.*1059A>T Unclear

L CNTNAP2 NM_014141.5 c.*1172_*1175delTCTT Unclear

L CNTNAP2 NM_014141.5 c.*1187G>A Unclear

L CNTNAP2 NM_014141.5 c.*1410_*1411insTTTCCAGAAAG Unclear

L CNTNAP2 NM_014141.5 c.*1557A>C Unclear

L CNTNAP2 NM_014141.5 c.*163_*164insA Unclear

L CNTNAP2 NM_014141.5 c.*164insA Unclear

L CNTNAP2 NM_014141.5 c.*2157A>G Unclear

L CNTNAP2 NM_014141.5 c.*2665C>T Unclear

L CNTNAP2 NM_014141.5 c.*279C>A Unclear

L CNTNAP2 NM_014141.5 c.*2931delAA Unclear

L CNTNAP2 NM_014141.5 c.*3742A>G Unclear

L CNTNAP2 NM_014141.5 c.*4276C>T Unclear

L CNTNAP2 NM_014141.5 c.*4738C>G Unclear

L CNTNAP2 NM_014141.5 c.*4797G>C Unclear

L CNTNAP2 NM_014141.5 c.*4839G>A Unclear

L CNTNAP2 NM_014141.5 c.*48G>A Unclear L CNTNAP2 NM_014141.5 c.*4934C>T Unclear

L CNTNAP2 NM_014141.5 c.*5022C>T Unclear

L CNTNAP2 NM_014141.5 c.*5343delGATA Unclear

L CNTNAP2 NM_014141.5 c.*598_*599insCTGA Unclear

L CNTNAP2 NM_014141.5 c.*678G>C Unclear

L CNTNAP2 NM_014141.5 c.*811_*812insT Unclear

L CNTNAP2 NM_014141.5 c.*812insT Unclear

L CNTNAP2 NM_014141.5 c.*912_*916delTAGTT Unclear

L CNTNAP2 NM_014141.5 c.*916delTAGTT Unclear

L CNTNAP2 NM_014141.5 c.-115G>A Unclear

L CNTNAP2 NM_014141.5 c.1349-30T>A Unclear

L CNTNAP2 NM_014141.5 c.1499-86C>T Unclear

L CNTNAP2 NM_014141.5 c.1897+25A>G Unclear

L CNTNAP2 NM_014141.5 c.2256-6A>T Unclear

L CNTNAP2 NM_014141.5 c.2773+62delA Unclear

L CNTNAP2 NM_014141.5 c.3248-4A>G Unclear

L CNTNAP2 NM_014141.5 c.3382-34G>A Unclear

L CNTNAP2 NM_014141.5 c.3476-15C>A Unclear

L CNTNAP2 NM_014141.5 c.3476-94T>G Unclear

L CNTNAP2 NM_014141.5 c.3716-8_3716-7insTT Unclear L CNTNAP2 NM_014141.5 c.3796+88G>A Unclear

L CNTNAP2 NM_014141.5 c.3796+91T>C Unclear

L CNTNAP2 NM_014141.5 c.3797-101G>C Unclear

L CNTNAP2 NM_014141.5 c.3797-61A>T Unclear

L CNTNAP2 NM_014141.5 c.3797-6C>T Unclear

L CNTNAP2 NM_014141.5 c.551-11_551-10insG Unclear

L DLG1 NM_004087.2 c.*1132_*1135delCCTT Unclear

L DLG1 NM_004087.2 c.*1135delCCTT Unclear

L DLG1 NM_004087.2 c.*1512G>C Unclear

L DLG1 NM_004087.2 c.*1697T>C Unclear

L DLG1 NM_004087.2 c.*1730_*1731insA Unclear

L DLG1 NM_004087.2 c.*1731insA Unclear

L DLG1 NM_004087.2 c.*199T>G Unclear

L DLG1 NM_004087.2 c.*249C>T Unclear

L DLG1 NM_004087.2 c.*445A>G Unclear

L DLG1 NM_004087.2 c.1265-36G>A Unclear

L DLG1 NM_004087.2 c.1760+48T>A Unclear

L DLG1 NM_004087.2 c.2300-38delT Unclear

L DLG1 NM_004087.2 c.2005-906A>G Unclear L DLG1 NM_004087.2 c.2674+10G>A Unclear

L DLG1 NM_004087.2 c.637-49T>C Unclear

L DLG1 NM_004087.2 c.583-109_583-108insTA Unclear

L DLG1 NM_004087.2 c.636+14C>T Unclear

L DLG3 NM_021120.3 c.*1975G>A Unclear

L DLG3 NM_021120.3 c.*2612G>T Unclear

L DLG3 NM_021120.3 c.1146-23C>T Unclear

L DLG3 NM_021120.3 c.1145+779T>C Unclear

L DLG3 NM_021120.3 c.1870+27T>C Unclear

L DLG3 NM_021120.3 c.1870+114_1870+117delTCAT Unclear

L DLG4 NM_001128827.1 c.*561T>C Unclear

L DLG4 NM_001128827.1 c.31-66A>G Unclear

L DLG4 NM_001128827.1 c.1684+94del Unclear

L DLG4 NM_001128827.1 c.2060-64C>T Unclear

L DLG4 NM_001128827.1 c.633+37T>C Unclear

L EFNA3 NM_004952.4 c.*832A>G Unclear

L EFNA3 NM_004952.4 c.*850C>T Unclear

L EFNA3 NM_004952.4 c.129-68A>G Unclear L EFNA3 NM_004952.4 c.587-74_587-73insC Unclear

L EPHA4 NM_004438.3 c.*1100C>G Unclear

L EPHA4 NM_004438.3 c.*1123insAGAC Unclear

L EPHA4 NM_004438.3 c.*1406C>G Unclear

L EPHA4 NM_004438.3 c.*1446G>A Unclear

L EPHA4 NM_004438.3 c.*1815G>A Unclear

L EPHA4 NM_004438.3 c.*2058C>G Unclear

L EPHA4 NM_004438.3 c.*2578G>A Unclear

L EPHA4 NM_004438.3 c.*2588G>A Unclear

L EPHA4 NM_004438.3 c.*2811A>G Unclear

L EPHA4 NM_004438.3 c.*3092T>A Unclear

L EPHA4 NM_004438.3 c.*3133C>A Unclear

L EPHA4 NM_004438.3 c.*3327G>A Unclear

L EPHA4 NM_004438.3 c.*721A>C Unclear

L EPHA4 NM_004438.3 c.*824T>C Unclear

L EPHA4 NM_004438.3 c.1603+108G>A Unclear

L EPHA4 NM_004438.3 c.1604-49C>T Unclear

L EPHA4 NM_004438.3 c.1889-51_1889-45delTCATCTT Unclear

L EPHA4 NM_004438.3 c.2074+15C>A Unclear L EPHA4 NM_004438.3 c.2075-70G>A Unclear

L EPHA4 NM_004438.3 c.2137-29A>G Unclear

L EPHA4 NM_004438.3 c.2346+26C>G Unclear

L EPHA4 NM_004438.3 c.2847-101T>G Unclear

L EPHA4 NM_004438.3 c.2847-40T>C Unclear

L EPHA4 NM_004438.3 c.823+119C>T Unclear

L EPHA4 NM_004438.3 c.823+21G>T Unclear

L EPHA4 NM_004438.3 c.824-46A>G Unclear

L EPHA4 NM_004438.3 c.824-82A>G Unclear

L GJA1 NM_000165.3 c.-17+93T>G Unclear

L GJA1 NM_000165.3 c.*1_*2insA Unclear

L GJA1 NM_000165.3 c.*1322A>T Unclear

L GJA1 NM_000165.3 c.*173G>A Unclear

L GJA1 NM_000165.3 c.*2insA Unclear

L GJA1 NM_000165.3 c.*762_*763insT Unclear

L GJA1 NM_000165.3 c.*763insT Unclear

L GJB6 NM_006783.4 c.*337G>T Unclear

L GLUL NM_002065.5 c.-14+1136G>T Unclear

L GLUL NM_002065.5 c.-14+499G>A Unclear

L GLUL NM_002065.5 c.-14+54T>G Unclear L GLUL NM_002065.5 c.-14+612T>G; Unclear

L GLUL NM_002065.5 c.-14+645A>C Unclear

L GLUL NM_002065.5 c.-14+87C>A Unclear

L GLUL NM_002065.5 c.-486T>C Unclear

L GLUL NM_002065.5 c.-547G>C Unclear

L GLUL NM_002065.5 c.-866G>C Unclear

L GLUL NM_002065.5 c.*1340C>A Unclear

L GLUL NM_002065.5 c.*1909insTCATTT Unclear

L GLUL NM_002065.5 c.*1913A>T Unclear

L GLUL NM_002065.5 c.*1958G>A Unclear

L GLUL NM_002065.5 c.*1958G>A Unclear

L GLUL NM_002065.5 c.*2118T>C Unclear

L GLUL NM_002065.5 c.*2307C>T Unclear

L GLUL NM_002065.5 c.*2631G>A Unclear

L GLUL NM_002065.5 c.*2644G>C Unclear

L GLUL NM_002065.5 c.*547C>A Unclear

L GLUL NM_002065.5 c.*919A>G Unclear

L GLUL NM_002065.5 c.328+19A>G Unclear

L GLUL NM_002065.5 c.475+71A>G Unclear L GLUL NM_002065.5 c.476-24T>C Unclear

L GLUL NM_002065.5 c.603+45T>C Unclear

L GRIA1 NM_000827.3; c.*1430C>T Unclear

L GRIA1 NM_000827.3; c.2022+24A>G Unclear

L GRIA1 NM_000827.3; c.220+24A>G Unclear

L GRIA1 NM_000827.3; c.221-18T>A Unclear

L GRIA1 NM_000827.3; c.699+93A>G Unclear

L GRIA1 NM_000827.3; c.461-37_461-34delCTGT Unclear

L GRIA1 NM_000827.3; c.1030-39A>G Unclear

L GRIN1 NM_001185090.1 c.1403-38G>A Unclear

L GRIN1 NM_001185090.1 c.1530+8G>A Unclear

L GRIN1 NM_001185090.1 c.735-80A>G Unclear

L GRIN1 NM_001185090.1 c.735-106A>C Unclear

L GRIN2A NM_000833.3 c.-19+36G>A Unclear

L GRIN2A NM_000833.3 c.-937G>A; c.-351G>A Unclear

L GRIN2A NM_000833.3 c.*1212C>T Unclear

L GRIN2A NM_000833.3 c.*1385C>A Unclear

L GRIN2A NM_000833.3 c.*2617G>C Unclear L GRIN2A NM_000833.3 c.*2803A>G Unclear

L GRIN2A NM_000833.3 c.*327G>T; c.*121G>T Unclear

L GRIN2A NM_000833.3 c.*3753C>G Unclear

L GRIN2A NM_000833.3 c.*4739T>C Unclear

L GRIN2A NM_000833.3 c.*5776A>T Unclear

L GRIN2A NM_000833.3 c.*5818C>T Unclear

L GRIN2A NM_000833.3 c.*5884G>A Unclear

L GRIN2A NM_000833.3 c.*6128A>G Unclear

L GRIN2A NM_000833.3 c.*6149C>G Unclear

L GRIN2A NM_000833.3 c.*6609T>C Unclear

L GRIN2A NM_000833.3 c.*6906T>G Unclear

L GRIN2A NM_000833.3 c.*7022_*7023delCA Unclear

L GRIN2A NM_000833.3 c.*7023delCA Unclear

L GRIN2A NM_000833.3 c.*7292_*7293insT Unclear

L GRIN2A NM_000833.3 c.*7324G>A Unclear

L GRIN2A NM_000833.3 c.*8535A>C Unclear

L GRIN2A NM_000833.3 c.*8978G>C Unclear

L GRIN2A NM_000833.3 c.1008-16C>G Unclear

L GRIN2A NM_000833.3 c.1329-105A>C Unclear

L GRIN2A NM_000833.3 c.2007+101C>T Unclear L GRIN2A NM_000833.3 c.2008-36C>T Unclear

L GRIN2B NM_000834.3 c.-15G>A Unclear

L GRIN2B NM_000834.3 c.-19+51A>C Unclear

L GRIN2B NM_000834.3 c.-208_-208delT Unclear

L GRIN2B NM_000834.3 c.*409T>G Unclear

L GRIN2B NM_000834.3 c.*988A>G Unclear

L GRIN2B NM_000834.3 c.1125+20A>G Unclear

L GRIN2B NM_000834.3 c.1126-73A>G Unclear

L GRIN2B NM_000834.3 c.1500+73G>A Unclear

L GRIN2B NM_000834.3 c.1501-97C>T Unclear

L GRIN2B NM_000834.3 c.2598+100T>C Unclear

L GRIN2C NM_000835.3 c.-15-139T>C Unclear

L GRIN2C NM_000835.3 c.-15-182A>G Unclear

L GRIN2C NM_000835.3 c.*93G>A Unclear

L GRIN2C NM_000835.3 c.1646-49G>A Unclear

L GRIN2C NM_000835.3 c.1771+152G>C Unclear

L GRIN2C NM_000835.3 c.1771+68C>T Unclear

L GRIN2C NM_000835.3 c.999-69C>T Unclear

L GRIN2D NM_000836.2 c.1085+22delG Unclear L GRIN2D NM_000836.2 c.1735+15T>C Unclear

L GRIN2D NM_000836.2 c.1735+58G>A Unclear

L GRIN2D NM_000836.2 c.1862-69delT Unclear

L GRIN2D NM_000836.2 c.2091+30C>A Unclear

L GRIN2D NM_000836.2 c.2092-116T>C Unclear

L GRIN2D NM_000836.2 c.2092-79G>A Unclear

L GRM3 NM_000840.2 c.-242G>A Unclear

L GRM3 NM_000840.2 c.-745A>T Unclear

L GRM5 NM_001143831.2 c.-200-4insT; c.-204_-203insT Unclear

L GRM5 NM_001143831.2 c.-200-4insT; c.-204insT Unclear

L GRM5 NM_001143831.2 c.*163G>C Unclear

L GRM5 NM_001143831.2 c.*1706T>G Unclear

L GRM5 NM_001143831.2 c.*2304G>A Unclear

L GRM5 NM_001143831.2 c.*2502G>A Unclear

L GRM5 NM_001143831.2 c.*268G>A Unclear

L GRM5 NM_001143831.2 c.*564C>A Unclear

L GRM5 NM_001143831.2 c.1147+36G>A Unclear

L GRM5 NM_001143831.2 c.1148-33C>T Unclear L GRM5 NM_001143831.2 c.1564-35C>A Unclear

L GRM8 NM_000845.2 c.*344_*344delA Unclear

L GRM8 NM_000845.2 c.*84T>C Unclear

L GRM8 NM_000845.2 c.*344delA Unclear

L GRM8 NM_000845.2 c.1018+14A>G Unclear

L GRM8 NM_000845.2 c.1157-3C>A Unclear

L GRM8 NM_000845.2 c.1157-52C>G Unclear

L GRM8 NM_000845.2 c.2677+158G>A Unclear

L GRM8 NM_000845.2 c.864-62A>G Unclear

L KCNN3 NM_002249.5 c.933+9204A>G Unclear

L KCNN3 NM_002249.5 c.933+9186T>G Unclear

L KCNN3 NM_002249.5 c.1829+123T>G Unclear

L KCNN3 NM_002249.5 c.933+9218G>A Unclear

L KCNN4 NM_002250.2 c.*179T>G Unclear

L KCNN4 NM_002250.2 c.*320C>T Unclear

L KCNN4 NM_002250.2 c.*426T>C Unclear

L KCNN4 NM_002250.2 c.1049+78A>G Unclear

L KCNN4 NM_002250.2 c.160-49C>T Unclear

L SLC12A2 NM_001046.2 c.*1479delA Unclear

L SLC12A2 NM_001046.2 c.*220C>T Unclear L SLC12A2 NM_001046.2 c.*2621T>A Unclear

L SLC12A2 NM_001046.2 c.1622-104T>C Unclear

L SLC12A2 NM_001046.2 c.2977+29A>C Unclear

L SLC12A2 NM_001046.2 c.3100+55A>T Unclear

L SLC12A2 NM_001046.2 c.3504-35_3504-34insT Unclear

L SLC17A6 NM_020346.2 c.-269C>A Unclear

L SLC17A6 NM_020346.2 c.340-35C>T Unclear

L SLC17A6 NM_020346.2 c.458+28G>C Unclear

L SLC17A6 NM_020346.2 c.87-108T>A Unclear

L SLC17A7 NM_020309.3 c.*1014C>A Unclear

L SLC17A7 NM_020309.3 c.315+87A>G Unclear

L SLC1A2 NM_004171.3 c.*1341T>A Unclear

L SLC1A2 NM_004171.3 c.*1589T>C Unclear

L SLC1A2 NM_004171.3 c.*2785T>G Unclear

L SLC1A2 NM_004171.3 c.*3140G>A Unclear

L SLC1A2 NM_004171.3 c.*345A>G Unclear

L SLC1A2 NM_004171.3 c.*3482G>A Unclear

L SLC1A2 NM_004171.3 c.*378_*378delA Unclear

L SLC1A2 NM_004171.3 c.*4108A>T Unclear L SLC1A2 NM_004171.3 c.*4281delA Unclear

L SLC1A2 NM_004171.3 c.*4346G>A Unclear

L SLC1A2 NM_004171.3 c.*5171C>T Unclear

L SLC1A2 NM_004171.3 c.*5353A>G Unclear

L SLC1A2 NM_004171.3 c.*5718T>A Unclear

L SLC1A2 NM_004171.3 c.*6382C>T Unclear

L SLC1A2 NM_004171.3 c.*7508A>T Unclear

L SLC1A2 NM_004171.3 c.*7612T>C Unclear

L SLC1A2 NM_004171.3 c.*9173A>G Unclear

L SLC1A2 NM_004171.3 c.1422-195A>G Unclear

L SLC1A2 NM_004171.3 c.157+22C>T Unclear

L SLC1A2 NM_004171.3 c.157+31C>G Unclear

L SLC1A2 NM_004171.3 c.1653+73_1653+74insA Unclear

L SLC1A2 NM_004171.3 c.18-5044G>A Unclear

L SLC1A2 NM_004171.3 c.311-37A>G Unclear

L SLC1A2 NM_004171.3 c.562-36T>C Unclear

L SLC1A2 NM_004171.3 c.731-8T>C Unclear

L SLC1A2 NM_004171.3 c.858-106G>A Unclear L SLC1A3 NM_004172.4 c.*1022G>A Unclear

L SLC1A3 NM_004172.4 c.*1485C>T Unclear

L SLC1A3 NM_004172.4 c.*1656G>C Unclear

L SLC1A3 NM_004172.4 c.*33G>A Unclear

L SLC1A3 NM_004172.4 c.*515A>C Unclear

L SLC1A3 NM_004172.4 c.1290-46G>C Unclear

L SLC1A3 NM_004172.4 c.1290-63C>T Unclear

L SLC1A3 NM_004172.4 c.1290-78G>A Unclear

L SLC1A3 NM_004172.4 c.181+21_181+22insA Unclear

L SLC1A3 NM_004172.4 c.181+318T>C Unclear

L SLC1A3 NM_004172.4 c.181+455A>T Unclear

L SNTA1 NM_003098.2 c.909+30T>C Unclear

L STXBP1 NM_003165.3 c.38-3T>C Unclear

L STXBP1 NM_003165.3 c.246+83G>T Unclear

L STXBP1 NM_003165.3 c.794+42C>T Unclear

L STXBP1 NM_003165.3 c.1548-24_1548-23delTC Unclear

L STXBP1 NM_003165.3 c.*398T>A Unclear

L STXBP1 NM_003165.3 c.*1417T>C Unclear

L STXBP1 NM_003165.3 c.1702+1997G>A Unclear L SYT4 NM_020783.3 c.*1888G>A Unclear

L SYT4 NM_020783.3 c.*10C>T Unclear

L SYT4 NM_020783.3 c.*327T>A Unclear

L SYT4 NM_020783.3 c.*1113G>A Unclear

L TGFBR1 NM_004612.2 c.*3286G>C Unclear

L TGFBR1 NM_004612.2 c.*69A>G Unclear

L TGFBR1 NM_004612.2 c.1255+24G>A Unclear

L TGFBR1 NM_004612.2 c.*884A>G Unclear

L TGFBR1 NM_004612.2 c.*2800G>A Unclear

L TGFBR1 NM_004612.2 c.*4578T>G Unclear

L TGFBR1 NM_004612.2 c.*2103T>G Unclear

L TGFBR1 NM_004612.2 c.*2103insG Unclear

L TGFBR1 NM_004612.2 c.*2102_*2103insG Unclear

L TGFBR1 NM_004612.2 c.*4499G>A Unclear

L TGFBR1 NM_004612.2 c.*4489T>C Unclear

L TGFBR1 NM_004612.2 c.1387-26_1387-25insT Unclear

L TGFBR2 NM_003242.5 c.*2085T>A Unclear

L TGFBR2 NM_003242.5 c.*1833A>C Unclear

L TGFBR2 NM_003242.5 c.1525-91C>A Unclear

L TGFBR2 NM_003242.5 c.*2239insT Unclear L TGFBR2 NM_003242.5 c.*2065C>T Unclear

L TGFBR2 NM_003242.5 c.263+7A>G Unclear

L TGFBR2 NM_003242.5 c.455-4T>A Unclear

L TGFBR2 NM_003242.5 c.*747C>G Unclear

L TGFBR2 NM_003242.5 c.*2065C>T Unclear

L TGFBR2 NM_003242.5 c.*2238_*2239insT Unclear

L VAMP2 NM_014232.2 c.*1180C>T Unclear

L VAMP2 NM_014232.2 c.334+12G>C Unclear

L VAMP2 NM_014232.2 c.*1590T>C Unclear

L VAMP3 NM_004781.3 c.3-17G>A Unclear

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