Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219421536A>CCA350695029DESn.694A>C
n.608A>C
c.1220A>C (p.Lys407Thr)
n.692A>C
n.615A>C
c.1217A>C (p.Lys406Thr)
c.788A>C (p.Lys263Thr)
c.1151A>C (p.Lys384Thr)
c.1199A>C (p.Lys400Thr)
c.950A>C (p.Lys317Thr)
2g.219421536A>GCA350695033DESn.694A>G
n.608A>G
c.1220A>G (p.Lys407Arg)
n.692A>G
n.615A>G
c.1217A>G (p.Lys406Arg)
c.788A>G (p.Lys263Arg)
c.1151A>G (p.Lys384Arg)
c.1199A>G (p.Lys400Arg)
c.950A>G (p.Lys317Arg)
2g.219421536A>TCA350695031DESn.694A>T
n.608A>T
c.1220A>T (p.Lys407Met)
n.692A>T
n.615A>T
c.1217A>T (p.Lys406Met)
c.788A>T (p.Lys263Met)
c.1151A>T (p.Lys384Met)
c.1199A>T (p.Lys400Met)
c.950A>T (p.Lys317Met)
2g.219421537G>ACA431284499DESn.695G>A
n.609G>A
c.1221G>A (p.Lys407=)
n.693G>A
n.616G>A
c.1218G>A (p.Lys406=)
c.789G>A (p.Lys263=)
c.1152G>A (p.Lys384=)
c.1200G>A (p.Lys400=)
c.951G>A (p.Lys317=)
2g.219421537G>CCA350695036DESn.695G>C
n.609G>C
c.1221G>C (p.Lys407Asn)
n.693G>C
n.616G>C
c.1218G>C (p.Lys406Asn)
c.789G>C (p.Lys263Asn)
c.1152G>C (p.Lys384Asn)
c.1200G>C (p.Lys400Asn)
c.951G>C (p.Lys317Asn)
2g.219421537G>TCA350695037DESn.695G>T
n.609G>T
c.1221G>T (p.Lys407Asn)
n.693G>T
n.616G>T
c.1218G>T (p.Lys406Asn)
c.789G>T (p.Lys263Asn)
c.1152G>T (p.Lys384Asn)
c.1200G>T (p.Lys400Asn)
c.951G>T (p.Lys317Asn)
2g.219421538C>ACA350695039DESn.696C>A
n.610C>A
c.1222C>A (p.Leu408Met)
n.694C>A
n.617C>A
c.1219C>A (p.Leu407Met)
c.790C>A (p.Leu264Met)
c.1153C>A (p.Leu385Met)
c.1201C>A (p.Leu401Met)
c.952C>A (p.Leu318Met)
2g.219421538C>GCA350695040DESn.696C>G
n.610C>G
c.1222C>G (p.Leu408Val)
n.694C>G
n.617C>G
c.1219C>G (p.Leu407Val)
c.790C>G (p.Leu264Val)
c.1153C>G (p.Leu385Val)
c.1201C>G (p.Leu401Val)
c.952C>G (p.Leu318Val)
2g.219421538C>TCA431284500DESn.696C>T
n.610C>T
c.1222C>T (p.Leu408=)
n.694C>T
n.617C>T
c.1219C>T (p.Leu407=)
c.790C>T (p.Leu264=)
c.1153C>T (p.Leu385=)
c.1201C>T (p.Leu401=)
c.952C>T (p.Leu318=)
2g.219421538_219421539delinsCTCA1329211343DESn.696_697delinsCT
n.610_611delinsCT
c.1222_1223delinsCT (p.Leu408=)
n.694_695delinsCT
n.617_618delinsCT
c.1219_1220delinsCT (p.Leu407=)
c.790_791delinsCT (p.Leu264=)
c.1153_1154delinsCT (p.Leu385=)
c.1201_1202delinsCT (p.Leu401=)
c.952_953delinsCT (p.Leu318=)
2g.219421539delCA10602840DESn.697del
n.611del
c.1223del (p.Leu408ArgfsTer?)
n.695del
n.618del
c.1220del (p.Leu407ArgfsTer?)
c.791del (p.Leu264ArgfsTer?)
c.1154del (p.Leu385ArgfsTer?)
c.1202del (p.Leu401ArgfsTer?)
c.953del (p.Leu318ArgfsTer?)
 ClinVar dbSNP
2g.219421539T>ACA350695043DESn.697T>A
n.611T>A
c.1223T>A (p.Leu408Gln)
n.695T>A
n.618T>A
c.1220T>A (p.Leu407Gln)
c.791T>A (p.Leu264Gln)
c.1154T>A (p.Leu385Gln)
c.1202T>A (p.Leu401Gln)
c.953T>A (p.Leu318Gln)
2g.219421539T>CCA350695045DESn.697T>C
n.611T>C
c.1223T>C (p.Leu408Pro)
n.695T>C
n.618T>C
c.1220T>C (p.Leu407Pro)
c.791T>C (p.Leu264Pro)
c.1154T>C (p.Leu385Pro)
c.1202T>C (p.Leu401Pro)
c.953T>C (p.Leu318Pro)
2g.219421539T>GCA350695047DESn.697T>G
n.611T>G
c.1223T>G (p.Leu408Arg)
n.695T>G
n.618T>G
c.1220T>G (p.Leu407Arg)
c.791T>G (p.Leu264Arg)
c.1154T>G (p.Leu385Arg)
c.1202T>G (p.Leu401Arg)
c.953T>G (p.Leu318Arg)
2g.219421540G>ACA431284503DESn.698G>A
n.612G>A
c.1224G>A (p.Leu408=)
n.696G>A
n.619G>A
c.1221G>A (p.Leu407=)
c.792G>A (p.Leu264=)
c.1155G>A (p.Leu385=)
c.1203G>A (p.Leu401=)
c.954G>A (p.Leu318=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.219421540G>CCA431284501DESn.698G>C
n.612G>C
c.1224G>C (p.Leu408=)
n.696G>C
n.619G>C
c.1221G>C (p.Leu407=)
c.792G>C (p.Leu264=)
c.1155G>C (p.Leu385=)
c.1203G>C (p.Leu401=)
c.954G>C (p.Leu318=)
2g.219421540G=CA1329211344DESn.698G=
n.612G=
c.1224G= (p.Leu408=)
n.696G=
n.619G=
c.1221G= (p.Leu407=)
c.792G= (p.Leu264=)
c.1155G= (p.Leu385=)
c.1203G= (p.Leu401=)
c.954G= (p.Leu318=)
2g.219421540G>TCA431284502DESn.698G>T
n.612G>T
c.1224G>T (p.Leu408=)
n.696G>T
n.619G>T
c.1221G>T (p.Leu407=)
c.792G>T (p.Leu264=)
c.1155G>T (p.Leu385=)
c.1203G>T (p.Leu401=)
c.954G>T (p.Leu318=)
2g.219421541C>ACA350695050DESn.699C>A
n.613C>A
c.1225C>A (p.Leu409Met)
n.697C>A
n.620C>A
c.1222C>A (p.Leu408Met)
c.793C>A (p.Leu265Met)
c.1156C>A (p.Leu386Met)
c.1204C>A (p.Leu402Met)
c.955C>A (p.Leu319Met)
2g.219421541C>GCA350695052DESn.699C>G
n.613C>G
c.1225C>G (p.Leu409Val)
n.697C>G
n.620C>G
c.1222C>G (p.Leu408Val)
c.793C>G (p.Leu265Val)
c.1156C>G (p.Leu386Val)
c.1204C>G (p.Leu402Val)
c.955C>G (p.Leu319Val)
2g.219421541C>TCA431284504DESn.699C>T
n.613C>T
c.1225C>T (p.Leu409=)
n.697C>T
n.620C>T
c.1222C>T (p.Leu408=)
c.793C>T (p.Leu265=)
c.1156C>T (p.Leu386=)
c.1204C>T (p.Leu402=)
c.955C>T (p.Leu319=)
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=)

Number of alleles fetched