Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219421542T>ACA350695054DESn.700T>A
n.614T>A
c.1226T>A (p.Leu409Gln)
n.698T>A
n.621T>A
c.1223T>A (p.Leu408Gln)
c.794T>A (p.Leu265Gln)
c.1157T>A (p.Leu386Gln)
c.1205T>A (p.Leu402Gln)
c.956T>A (p.Leu319Gln)
2g.219421542T>CCA133817DESn.700T>C
n.614T>C
c.1226T>C (p.Leu409Pro)
n.698T>C
n.621T>C
c.1223T>C (p.Leu408Pro)
c.794T>C (p.Leu265Pro)
c.1157T>C (p.Leu386Pro)
c.1205T>C (p.Leu402Pro)
c.956T>C (p.Leu319Pro)
 ClinVar dbSNP
2g.219421542T>GCA350695055DESn.700T>G
n.614T>G
c.1226T>G (p.Leu409Arg)
n.698T>G
n.621T>G
c.1223T>G (p.Leu408Arg)
c.794T>G (p.Leu265Arg)
c.1157T>G (p.Leu386Arg)
c.1205T>G (p.Leu402Arg)
c.956T>G (p.Leu319Arg)
2g.219421542T=CA1329211345DESn.700T=
n.614T=
c.1226T= (p.Leu409=)
n.698T=
n.621T=
c.1223T= (p.Leu408=)
c.794T= (p.Leu265=)
c.1157T= (p.Leu386=)
c.1205T= (p.Leu402=)
c.956T= (p.Leu319=)
2g.219421543G>ACA2125256DESn.701G>A
n.615G>A
c.1227G>A (p.Leu409=)
n.699G>A
n.622G>A
c.1224G>A (p.Leu408=)
c.795G>A (p.Leu265=)
c.1158G>A (p.Leu386=)
c.1206G>A (p.Leu402=)
c.957G>A (p.Leu319=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.219421543G>CCA431284505DESn.701G>C
n.615G>C
c.1227G>C (p.Leu409=)
n.699G>C
n.622G>C
c.1224G>C (p.Leu408=)
c.795G>C (p.Leu265=)
c.1158G>C (p.Leu386=)
c.1206G>C (p.Leu402=)
c.957G>C (p.Leu319=)
2g.219421543G=CA1329211346DESn.701G=
n.615G=
c.1227G= (p.Leu409=)
n.699G=
n.622G=
c.1224G= (p.Leu408=)
c.795G= (p.Leu265=)
c.1158G= (p.Leu386=)
c.1206G= (p.Leu402=)
c.957G= (p.Leu319=)
2g.219421543G>TCA431284506DESn.701G>T
n.615G>T
c.1227G>T (p.Leu409=)
n.699G>T
n.622G>T
c.1224G>T (p.Leu408=)
c.795G>T (p.Leu265=)
c.1158G>T (p.Leu386=)
c.1206G>T (p.Leu402=)
c.957G>T (p.Leu319=)
 ClinVar dbSNP gnomAD v4
2g.219421544G>ACA350695060DESn.702G>A
n.616G>A
c.1228G>A (p.Glu410Lys)
n.700G>A
n.623G>A
c.1225G>A (p.Glu409Lys)
c.796G>A (p.Glu266Lys)
c.1159G>A (p.Glu387Lys)
c.1207G>A (p.Glu403Lys)
c.958G>A (p.Glu320Lys)
 ClinVar dbSNP COSMIC
2g.219421544G>CCA350695062DESn.702G>C
n.616G>C
c.1228G>C (p.Glu410Gln)
n.700G>C
n.623G>C
c.1225G>C (p.Glu409Gln)
c.796G>C (p.Glu266Gln)
c.1159G>C (p.Glu387Gln)
c.1207G>C (p.Glu403Gln)
c.958G>C (p.Glu320Gln)
2g.219421544G>TCA350695063DESn.702G>T
n.616G>T
c.1228G>T (p.Glu410Ter)
n.700G>T
n.623G>T
c.1225G>T (p.Glu409Ter)
c.796G>T (p.Glu266Ter)
c.1159G>T (p.Glu387Ter)
c.1207G>T (p.Glu403Ter)
c.958G>T (p.Glu320Ter)
2g.219421545A>CCA350695066DESn.703A>C
n.617A>C
c.1229A>C (p.Glu410Ala)
n.701A>C
n.624A>C
c.1226A>C (p.Glu409Ala)
c.797A>C (p.Glu266Ala)
c.1160A>C (p.Glu387Ala)
c.1208A>C (p.Glu403Ala)
c.959A>C (p.Glu320Ala)
2g.219421545A>GCA350695067DESn.703A>G
n.617A>G
c.1229A>G (p.Glu410Gly)
n.701A>G
n.624A>G
c.1226A>G (p.Glu409Gly)
c.797A>G (p.Glu266Gly)
c.1160A>G (p.Glu387Gly)
c.1208A>G (p.Glu403Gly)
c.959A>G (p.Glu320Gly)
2g.219421545A>TCA350695069DESn.703A>T
n.617A>T
c.1229A>T (p.Glu410Val)
n.701A>T
n.624A>T
c.1226A>T (p.Glu409Val)
c.797A>T (p.Glu266Val)
c.1160A>T (p.Glu387Val)
c.1208A>T (p.Glu403Val)
c.959A>T (p.Glu320Val)
2g.219421546G>ACA431284507DESn.704G>A
n.618G>A
c.1230G>A (p.Glu410=)
n.702G>A
n.625G>A
c.1227G>A (p.Glu409=)
c.798G>A (p.Glu266=)
c.1161G>A (p.Glu387=)
c.1209G>A (p.Glu403=)
c.960G>A (p.Glu320=)
 dbSNP
2g.219421546G>CCA350695071DESn.704G>C
n.618G>C
c.1230G>C (p.Glu410Asp)
n.702G>C
n.625G>C
c.1227G>C (p.Glu409Asp)
c.798G>C (p.Glu266Asp)
c.1161G>C (p.Glu387Asp)
c.1209G>C (p.Glu403Asp)
c.960G>C (p.Glu320Asp)
2g.219421546G=CA1329211347DESn.704G=
n.618G=
c.1230G= (p.Glu410=)
n.702G=
n.625G=
c.1227G= (p.Glu409=)
c.798G= (p.Glu266=)
c.1161G= (p.Glu387=)
c.1209G= (p.Glu403=)
c.960G= (p.Glu320=)
2g.219421546G>TCA350695072DESn.704G>T
n.618G>T
c.1230G>T (p.Glu410Asp)
n.702G>T
n.625G>T
c.1227G>T (p.Glu409Asp)
c.798G>T (p.Glu266Asp)
c.1161G>T (p.Glu387Asp)
c.1209G>T (p.Glu403Asp)
c.960G>T (p.Glu320Asp)
2g.219421547_219421553delCA2573051866DESn.705_711del
n.619_625del
c.1231_1237del (p.Gly411ArgfsTer?)
n.703_709del
n.626_632del
c.1228_1234del (p.Gly410ArgfsTer?)
c.799_805del (p.Gly267ArgfsTer?)
c.1162_1168del (p.Gly388ArgfsTer?)
c.1210_1216del (p.Gly404ArgfsTer?)
c.961_967del (p.Gly321ArgfsTer?)
 dbSNP
2g.219421547G>ACA350695074DESn.705G>A
n.619G>A
c.1231G>A (p.Gly411Arg)
n.703G>A
n.626G>A
c.1228G>A (p.Gly410Arg)
c.799G>A (p.Gly267Arg)
c.1162G>A (p.Gly388Arg)
c.1210G>A (p.Gly404Arg)
c.961G>A (p.Gly321Arg)
2g.219421547G>CCA350695075DESn.705G>C
n.619G>C
c.1231G>C (p.Gly411Arg)
n.703G>C
n.626G>C
c.1228G>C (p.Gly410Arg)
c.799G>C (p.Gly267Arg)
c.1162G>C (p.Gly388Arg)
c.1210G>C (p.Gly404Arg)
c.961G>C (p.Gly321Arg)
 COSMIC
2g.219421547G>TCA350695076DESn.705G>T
n.619G>T
c.1231G>T (p.Gly411Ter)
n.703G>T
n.626G>T
c.1228G>T (p.Gly410Ter)
c.799G>T (p.Gly267Ter)
c.1162G>T (p.Gly388Ter)
c.1210G>T (p.Gly404Ter)
c.961G>T (p.Gly321Ter)
2g.219421548G>ACA350695078DESn.706G>A
n.620G>A
c.1232G>A (p.Gly411Glu)
n.704G>A
n.627G>A
c.1229G>A (p.Gly410Glu)
c.800G>A (p.Gly267Glu)
c.1163G>A (p.Gly388Glu)
c.1211G>A (p.Gly404Glu)
c.962G>A (p.Gly321Glu)
 gnomAD v4
2g.219421548G>CCA350695079DESn.706G>C
n.620G>C
c.1232G>C (p.Gly411Ala)
n.704G>C
n.627G>C
c.1229G>C (p.Gly410Ala)
c.800G>C (p.Gly267Ala)
c.1163G>C (p.Gly388Ala)
c.1211G>C (p.Gly404Ala)
c.962G>C (p.Gly321Ala)
2g.219421548G>TCA350695084DESn.706G>T
n.620G>T
c.1232G>T (p.Gly411Val)
n.704G>T
n.627G>T
c.1229G>T (p.Gly410Val)
c.800G>T (p.Gly267Val)
c.1163G>T (p.Gly388Val)
c.1211G>T (p.Gly404Val)
c.962G>T (p.Gly321Val)
2g.219421549A=CA1329211348DESn.707A=
n.621A=
c.1233A= (p.Gly411=)
n.705A=
n.628A=
c.1230A= (p.Gly410=)
c.801A= (p.Gly267=)
c.1164A= (p.Gly388=)
c.1212A= (p.Gly404=)
c.963A= (p.Gly321=)
2g.219421549A>CCA431284510DESn.707A>C
n.621A>C
c.1233A>C (p.Gly411=)
n.705A>C
n.628A>C
c.1230A>C (p.Gly410=)
c.801A>C (p.Gly267=)
c.1164A>C (p.Gly388=)
c.1212A>C (p.Gly404=)
c.963A>C (p.Gly321=)
 dbSNP
2g.219421549A>GCA431284509DESn.707A>G
n.621A>G
c.1233A>G (p.Gly411=)
n.705A>G
n.628A>G
c.1230A>G (p.Gly410=)
c.801A>G (p.Gly267=)
c.1164A>G (p.Gly388=)
c.1212A>G (p.Gly404=)
c.963A>G (p.Gly321=)
2g.219421549A>TCA431284508DESn.707A>T
n.621A>T
c.1233A>T (p.Gly411=)
n.705A>T
n.628A>T
c.1230A>T (p.Gly410=)
c.801A>T (p.Gly267=)
c.1164A>T (p.Gly388=)
c.1212A>T (p.Gly404=)
c.963A>T (p.Gly321=)
2g.219421549_219421552delinsAGAGCA1329211349DESn.707_710delinsAGAG
n.621_624delinsAGAG
c.1233_1236delinsAGAG (p.Gly411=)
n.705_708delinsAGAG
n.628_631delinsAGAG
c.1230_1233delinsAGAG (p.Gly410=)
c.801_804delinsAGAG (p.Gly267=)
c.1164_1167delinsAGAG (p.Gly388=)
c.1212_1215delinsAGAG (p.Gly404=)
c.963_966delinsAGAG (p.Gly321=)
2g.219421550G>ACA352006DESn.708G>A
n.622G>A
c.1234G>A (p.Glu412Lys)
n.706G>A
n.629G>A
c.1231G>A (p.Glu411Lys)
c.802G>A (p.Glu268Lys)
c.1165G>A (p.Glu389Lys)
c.1213G>A (p.Glu405Lys)
c.964G>A (p.Glu322Lys)
 ClinVar dbSNP
2g.219421550G>CCA350695088DESn.708G>C
n.622G>C
c.1234G>C (p.Glu412Gln)
n.706G>C
n.629G>C
c.1231G>C (p.Glu411Gln)
c.802G>C (p.Glu268Gln)
c.1165G>C (p.Glu389Gln)
c.1213G>C (p.Glu405Gln)
c.964G>C (p.Glu322Gln)
2g.219421550G=CA1329211350DESn.708G=
n.622G=
c.1234G= (p.Glu412=)
n.706G=
n.629G=
c.1231G= (p.Glu411=)
c.802G= (p.Glu268=)
c.1165G= (p.Glu389=)
c.1213G= (p.Glu405=)
c.964G= (p.Glu322=)
2g.219421550G>TCA350695086DESn.708G>T
n.622G>T
c.1234G>T (p.Glu412Ter)
n.706G>T
n.629G>T
c.1231G>T (p.Glu411Ter)
c.802G>T (p.Glu268Ter)
c.1165G>T (p.Glu389Ter)
c.1213G>T (p.Glu405Ter)
c.964G>T (p.Glu322Ter)
2g.219421553_219421555delCA1042514406DESn.711_713del
n.625_627del
c.1237_1239del (p.Glu413del)
n.709_711del
n.632_634del
c.1234_1236del (p.Glu412del)
c.805_807del (p.Glu269del)
c.1168_1170del (p.Glu390del)
c.1216_1218del (p.Glu406del)
c.967_969del (p.Glu323del)
 dbSNP gnomAD v3 gnomAD v4
2g.219421551A>CCA350695090DESn.709A>C
n.623A>C
c.1235A>C (p.Glu412Ala)
n.707A>C
n.630A>C
c.1232A>C (p.Glu411Ala)
c.803A>C (p.Glu268Ala)
c.1166A>C (p.Glu389Ala)
c.1214A>C (p.Glu405Ala)
c.965A>C (p.Glu322Ala)
2g.219421551A>GCA350695092DESn.709A>G
n.623A>G
c.1235A>G (p.Glu412Gly)
n.707A>G
n.630A>G
c.1232A>G (p.Glu411Gly)
c.803A>G (p.Glu268Gly)
c.1166A>G (p.Glu389Gly)
c.1214A>G (p.Glu405Gly)
c.965A>G (p.Glu322Gly)
2g.219421551A>TCA350695094DESn.709A>T
n.623A>T
c.1235A>T (p.Glu412Val)
n.707A>T
n.630A>T
c.1232A>T (p.Glu411Val)
c.803A>T (p.Glu268Val)
c.1166A>T (p.Glu389Val)
c.1214A>T (p.Glu405Val)
c.965A>T (p.Glu322Val)
2g.219421552G>ACA431284511DESn.710G>A
n.624G>A
c.1236G>A (p.Glu412=)
n.708G>A
n.631G>A
c.1233G>A (p.Glu411=)
c.804G>A (p.Glu268=)
c.1167G>A (p.Glu389=)
c.1215G>A (p.Glu405=)
c.966G>A (p.Glu322=)
 dbSNP gnomAD v4
2g.219421552G>CCA350695096DESn.710G>C
n.624G>C
c.1236G>C (p.Glu412Asp)
n.708G>C
n.631G>C
c.1233G>C (p.Glu411Asp)
c.804G>C (p.Glu268Asp)
c.1167G>C (p.Glu389Asp)
c.1215G>C (p.Glu405Asp)
c.966G>C (p.Glu322Asp)
2g.219421552G=CA1329211351DESn.710G=
n.624G=
c.1236G= (p.Glu412=)
n.708G=
n.631G=
c.1233G= (p.Glu411=)
c.804G= (p.Glu268=)
c.1167G= (p.Glu389=)
c.1215G= (p.Glu405=)
c.966G= (p.Glu322=)
2g.219421552G>TCA350695098DESn.710G>T
n.624G>T
c.1236G>T (p.Glu412Asp)
n.708G>T
n.631G>T
c.1233G>T (p.Glu411Asp)
c.804G>T (p.Glu268Asp)
c.1167G>T (p.Glu389Asp)
c.1215G>T (p.Glu405Asp)
c.966G>T (p.Glu322Asp)
 ClinVar
2g.219421553G>ACA284673DESn.711G>A
n.625G>A
c.1237G>A (p.Glu413Lys)
n.709G>A
n.632G>A
c.1234G>A (p.Glu412Lys)
c.805G>A (p.Glu269Lys)
c.1168G>A (p.Glu390Lys)
c.1216G>A (p.Glu406Lys)
c.967G>A (p.Glu323Lys)
 ClinVar dbSNP
2g.219421553G>CCA350695101DESn.711G>C
n.625G>C
c.1237G>C (p.Glu413Gln)
n.709G>C
n.632G>C
c.1234G>C (p.Glu412Gln)
c.805G>C (p.Glu269Gln)
c.1168G>C (p.Glu390Gln)
c.1216G>C (p.Glu406Gln)
c.967G>C (p.Glu323Gln)
2g.219421553G=CA1329211352DESn.711G=
n.625G=
c.1237G= (p.Glu413=)
n.709G=
n.632G=
c.1234G= (p.Glu412=)
c.805G= (p.Glu269=)
c.1168G= (p.Glu390=)
c.1216G= (p.Glu406=)
c.967G= (p.Glu323=)
2g.219421553G>TCA350695103DESn.711G>T
n.625G>T
c.1237G>T (p.Glu413Ter)
n.709G>T
n.632G>T
c.1234G>T (p.Glu412Ter)
c.805G>T (p.Glu269Ter)
c.1168G>T (p.Glu390Ter)
c.1216G>T (p.Glu406Ter)
c.967G>T (p.Glu323Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.219421553_219421554delinsAGCA2586971385DESn.711_712delinsAG
n.625_626delinsAG
c.1237_1238delinsAG (p.Glu413Arg)
n.709_710delinsAG
n.632_633delinsAG
c.1234_1235delinsAG (p.Glu412Arg)
c.805_806delinsAG (p.Glu269Arg)
c.1168_1169delinsAG (p.Glu390Arg)
c.1216_1217delinsAG (p.Glu406Arg)
c.967_968delinsAG (p.Glu323Arg)
2g.219421554A=CA1329211353DESn.712A=
n.626A=
c.1238A= (p.Glu413=)
n.710A=
n.633A=
c.1235A= (p.Glu412=)
c.806A= (p.Glu269=)
c.1169A= (p.Glu390=)
c.1217A= (p.Glu406=)
c.968A= (p.Glu323=)
2g.219421554A>CCA350695104DESn.712A>C
n.626A>C
c.1238A>C (p.Glu413Ala)
n.710A>C
n.633A>C
c.1235A>C (p.Glu412Ala)
c.806A>C (p.Glu269Ala)
c.1169A>C (p.Glu390Ala)
c.1217A>C (p.Glu406Ala)
c.968A>C (p.Glu323Ala)
2g.219421554A>GCA350695106DESn.712A>G
n.626A>G
c.1238A>G (p.Glu413Gly)
n.710A>G
n.633A>G
c.1235A>G (p.Glu412Gly)
c.806A>G (p.Glu269Gly)
c.1169A>G (p.Glu390Gly)
c.1217A>G (p.Glu406Gly)
c.968A>G (p.Glu323Gly)
 ClinVar dbSNP

Number of alleles fetched