Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219421489_219421490dupCA2539756905DESn.647_648dup
n.561_562dup
c.1173_1174dup (p.Leu392ArgfsTer4)
n.645_646dup
n.568_569dup
c.1170_1171dup (p.Leu391ArgfsTer4)
c.741_742dup (p.Leu248ArgfsTer4)
c.1104_1105dup (p.Leu369ArgfsTer4)
c.1152_1153dup (p.Leu385ArgfsTer4)
c.903_904dup (p.Leu302ArgfsTer4)
2g.219421490C>ACA350694779DESn.648C>A
n.562C>A
c.1174C>A (p.Leu392Ile)
n.646C>A
n.569C>A
c.1171C>A (p.Leu391Ile)
c.742C>A (p.Leu248Ile)
c.1105C>A (p.Leu369Ile)
c.1153C>A (p.Leu385Ile)
c.904C>A (p.Leu302Ile)
2g.219421490C>GCA350694781DESn.648C>G
n.562C>G
c.1174C>G (p.Leu392Val)
n.646C>G
n.569C>G
c.1171C>G (p.Leu391Val)
c.742C>G (p.Leu248Val)
c.1105C>G (p.Leu369Val)
c.1153C>G (p.Leu385Val)
c.904C>G (p.Leu302Val)
2g.219421490C>TCA350694784DESn.648C>T
n.562C>T
c.1174C>T (p.Leu392Phe)
n.646C>T
n.569C>T
c.1171C>T (p.Leu391Phe)
c.742C>T (p.Leu248Phe)
c.1105C>T (p.Leu369Phe)
c.1153C>T (p.Leu385Phe)
c.904C>T (p.Leu302Phe)
2g.219421490_219421491insGCTCA2511289613DESn.648_649insGCT
n.562_563insGCT
c.1174_1175insGCT (p.Leu392delinsArgPhe)
n.646_647insGCT
n.569_570insGCT
c.1171_1172insGCT (p.Leu391delinsArgPhe)
c.742_743insGCT (p.Leu248delinsArgPhe)
c.1105_1106insGCT (p.Leu369delinsArgPhe)
c.1153_1154insGCT (p.Leu385delinsArgPhe)
c.904_905insGCT (p.Leu302delinsArgPhe)
2g.219421490_219421491insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCACA2754326071DESn.648_649insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA
n.562_563insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA
c.1174_1175insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA (p.Leu392delinsArgPheGluLeuCysLeuGlyValCysGlyValHisTyrProGlnAspAlaGlyArgGluLeuHisGlyTyrTyrProLeuPheSerIle)
n.646_647insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA
n.569_570insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA
c.1171_1172insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA (p.Leu391delinsArgPheGluLeuCysLeuGlyValCysGlyValHisTyrProGlnAspAlaGlyArgGluLeuHisGlyTyrTyrProLeuPheSerIle)
c.742_743insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA (p.Leu248delinsArgPheGluLeuCysLeuGlyValCysGlyValHisTyrProGlnAspAlaGlyArgGluLeuHisGlyTyrTyrProLeuPheSerIle)
c.1105_1106insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA (p.Leu369delinsArgPheGluLeuCysLeuGlyValCysGlyValHisTyrProGlnAspAlaGlyArgGluLeuHisGlyTyrTyrProLeuPheSerIle)
c.1153_1154insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA (p.Leu385delinsArgPheGluLeuCysLeuGlyValCysGlyValHisTyrProGlnAspAlaGlyArgGluLeuHisGlyTyrTyrProLeuPheSerIle)
c.904_905insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA (p.Leu302delinsArgPheGluLeuCysLeuGlyValCysGlyValHisTyrProGlnAspAlaGlyArgGluLeuHisGlyTyrTyrProLeuPheSerIle)
2g.219421491T>ACA350694788DESn.649T>A
n.563T>A
c.1175T>A (p.Leu392His)
n.647T>A
n.570T>A
c.1172T>A (p.Leu391His)
c.743T>A (p.Leu248His)
c.1106T>A (p.Leu369His)
c.1154T>A (p.Leu385His)
c.905T>A (p.Leu302His)
2g.219421491T>CCA217027DESn.649T>C
n.563T>C
c.1175T>C (p.Leu392Pro)
n.647T>C
n.570T>C
c.1172T>C (p.Leu391Pro)
c.743T>C (p.Leu248Pro)
c.1106T>C (p.Leu369Pro)
c.1154T>C (p.Leu385Pro)
c.905T>C (p.Leu302Pro)
 ClinVar dbSNP
2g.219421491T>GCA350694793DESn.649T>G
n.563T>G
c.1175T>G (p.Leu392Arg)
n.647T>G
n.570T>G
c.1172T>G (p.Leu391Arg)
c.743T>G (p.Leu248Arg)
c.1106T>G (p.Leu369Arg)
c.1154T>G (p.Leu385Arg)
c.905T>G (p.Leu302Arg)
2g.219421491T=CA1329211319DESn.649T=
n.563T=
c.1175T= (p.Leu392=)
n.647T=
n.570T=
c.1172T= (p.Leu391=)
c.743T= (p.Leu248=)
c.1106T= (p.Leu369=)
c.1154T= (p.Leu385=)
c.905T= (p.Leu302=)
2g.219421491_219421492insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACA2560026055DESn.649_650insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA
n.563_564insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA
c.1175_1176insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn393ArgfsTer?)
n.647_648insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA
n.570_571insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA
c.1172_1173insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn392ArgfsTer?)
c.743_744insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn249ArgfsTer?)
c.1106_1107insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn370ArgfsTer?)
c.1154_1155insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn386ArgfsTer?)
c.905_906insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn303ArgfsTer?)
2g.219421492C>ACA431284468DESn.650C>A
n.564C>A
c.1176C>A (p.Leu392=)
n.648C>A
n.571C>A
c.1173C>A (p.Leu391=)
c.744C>A (p.Leu248=)
c.1107C>A (p.Leu369=)
c.1155C>A (p.Leu385=)
c.906C>A (p.Leu302=)
2g.219421492C=CA1329211320DESn.650C=
n.564C=
c.1176C= (p.Leu392=)
n.648C=
n.571C=
c.1173C= (p.Leu391=)
c.744C= (p.Leu248=)
c.1107C= (p.Leu369=)
c.1155C= (p.Leu385=)
c.906C= (p.Leu302=)
2g.219421492C>GCA431284469DESn.650C>G
n.564C>G
c.1176C>G (p.Leu392=)
n.648C>G
n.571C>G
c.1173C>G (p.Leu391=)
c.744C>G (p.Leu248=)
c.1107C>G (p.Leu369=)
c.1155C>G (p.Leu385=)
c.906C>G (p.Leu302=)
 ClinVar dbSNP gnomAD v4
2g.219421492C>TCA431284470DESn.650C>T
n.564C>T
c.1176C>T (p.Leu392=)
n.648C>T
n.571C>T
c.1173C>T (p.Leu391=)
c.744C>T (p.Leu248=)
c.1107C>T (p.Leu369=)
c.1155C>T (p.Leu385=)
c.906C>T (p.Leu302=)
 gnomAD v3 gnomAD v4
2g.219421492_219421493insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTCA2754326073DESn.650_651insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT
n.564_565insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT
c.1176_1177insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT (p.Asn393GlufsTer22)
n.648_649insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT
n.571_572insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT
c.1173_1174insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT (p.Asn392GlufsTer22)
c.744_745insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT (p.Asn249GlufsTer22)
c.1107_1108insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT (p.Asn370GlufsTer22)
c.1155_1156insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT (p.Asn386GlufsTer22)
c.906_907insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT (p.Asn303GlufsTer22)
2g.219421493A>CCA350694801DESn.651A>C
n.565A>C
c.1177A>C (p.Asn393His)
n.649A>C
n.572A>C
c.1174A>C (p.Asn392His)
c.745A>C (p.Asn249His)
c.1108A>C (p.Asn370His)
c.1156A>C (p.Asn386His)
c.907A>C (p.Asn303His)
2g.219421493A>GCA350694804DESn.651A>G
n.565A>G
c.1177A>G (p.Asn393Asp)
n.649A>G
n.572A>G
c.1174A>G (p.Asn392Asp)
c.745A>G (p.Asn249Asp)
c.1108A>G (p.Asn370Asp)
c.1156A>G (p.Asn386Asp)
c.907A>G (p.Asn303Asp)
 gnomAD v4
2g.219421493A>TCA350694798DESn.651A>T
n.565A>T
c.1177A>T (p.Asn393Tyr)
n.649A>T
n.572A>T
c.1174A>T (p.Asn392Tyr)
c.745A>T (p.Asn249Tyr)
c.1108A>T (p.Asn370Tyr)
c.1156A>T (p.Asn386Tyr)
c.907A>T (p.Asn303Tyr)
2g.219421494A=CA1329211321DESn.652A=
n.566A=
c.1178A= (p.Asn393=)
n.650A=
n.573A=
c.1175A= (p.Asn392=)
c.746A= (p.Asn249=)
c.1109A= (p.Asn370=)
c.1157A= (p.Asn386=)
c.908A= (p.Asn303=)
2g.219421494A>CCA350694808DESn.652A>C
n.566A>C
c.1178A>C (p.Asn393Thr)
n.650A>C
n.573A>C
c.1175A>C (p.Asn392Thr)
c.746A>C (p.Asn249Thr)
c.1109A>C (p.Asn370Thr)
c.1157A>C (p.Asn386Thr)
c.908A>C (p.Asn303Thr)
2g.219421494A>GCA2125252DESn.652A>G
n.566A>G
c.1178A>G (p.Asn393Ser)
n.650A>G
n.573A>G
c.1175A>G (p.Asn392Ser)
c.746A>G (p.Asn249Ser)
c.1109A>G (p.Asn370Ser)
c.1157A>G (p.Asn386Ser)
c.908A>G (p.Asn303Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219421494A>TCA217030DESn.652A>T
n.566A>T
c.1178A>T (p.Asn393Ile)
n.650A>T
n.573A>T
c.1175A>T (p.Asn392Ile)
c.746A>T (p.Asn249Ile)
c.1109A>T (p.Asn370Ile)
c.1157A>T (p.Asn386Ile)
c.908A>T (p.Asn303Ile)
 ClinVar dbSNP
2g.219421494_219421495insGCTGTGCCTCGGGGTCTGCGGCA2518076333DESn.652_653insGCTGTGCCTCGGGGTCTGCGG
n.566_567insGCTGTGCCTCGGGGTCTGCGG
c.1178_1179insGCTGTGCCTCGGGGTCTGCGG (p.Asn393delinsLysLeuCysLeuGlyValCysGly)
n.650_651insGCTGTGCCTCGGGGTCTGCGG
n.573_574insGCTGTGCCTCGGGGTCTGCGG
c.1175_1176insGCTGTGCCTCGGGGTCTGCGG (p.Asn392delinsLysLeuCysLeuGlyValCysGly)
c.746_747insGCTGTGCCTCGGGGTCTGCGG (p.Asn249delinsLysLeuCysLeuGlyValCysGly)
c.1109_1110insGCTGTGCCTCGGGGTCTGCGG (p.Asn370delinsLysLeuCysLeuGlyValCysGly)
c.1157_1158insGCTGTGCCTCGGGGTCTGCGG (p.Asn386delinsLysLeuCysLeuGlyValCysGly)
c.908_909insGCTGTGCCTCGGGGTCTGCGG (p.Asn303delinsLysLeuCysLeuGlyValCysGly)
2g.219421495C>ACA350694816DESn.653C>A
n.567C>A
c.1179C>A (p.Asn393Lys)
n.651C>A
n.574C>A
c.1176C>A (p.Asn392Lys)
c.747C>A (p.Asn249Lys)
c.1110C>A (p.Asn370Lys)
c.1158C>A (p.Asn386Lys)
c.909C>A (p.Asn303Lys)
2g.219421495C=CA1329211322DESn.653C=
n.567C=
c.1179C= (p.Asn393=)
n.651C=
n.574C=
c.1176C= (p.Asn392=)
c.747C= (p.Asn249=)
c.1110C= (p.Asn370=)
c.1158C= (p.Asn386=)
c.909C= (p.Asn303=)
2g.219421495C>GCA350694819DESn.653C>G
n.567C>G
c.1179C>G (p.Asn393Lys)
n.651C>G
n.574C>G
c.1176C>G (p.Asn392Lys)
c.747C>G (p.Asn249Lys)
c.1110C>G (p.Asn370Lys)
c.1158C>G (p.Asn386Lys)
c.909C>G (p.Asn303Lys)
2g.219421495C>TCA65983651DESn.653C>T
n.567C>T
c.1179C>T (p.Asn393=)
n.651C>T
n.574C>T
c.1176C>T (p.Asn392=)
c.747C>T (p.Asn249=)
c.1110C>T (p.Asn370=)
c.1158C>T (p.Asn386=)
c.909C>T (p.Asn303=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.219421496G>ACA2125253DESn.654G>A
n.568G>A
c.1180G>A (p.Val394Met)
n.652G>A
n.575G>A
c.1177G>A (p.Val393Met)
c.748G>A (p.Val250Met)
c.1111G>A (p.Val371Met)
c.1159G>A (p.Val387Met)
c.910G>A (p.Val304Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219421496G>CCA350694824DESn.654G>C
n.568G>C
c.1180G>C (p.Val394Leu)
n.652G>C
n.575G>C
c.1177G>C (p.Val393Leu)
c.748G>C (p.Val250Leu)
c.1111G>C (p.Val371Leu)
c.1159G>C (p.Val387Leu)
c.910G>C (p.Val304Leu)
2g.219421496G=CA1329211323DESn.654G=
n.568G=
c.1180G= (p.Val394=)
n.652G=
n.575G=
c.1177G= (p.Val393=)
c.748G= (p.Val250=)
c.1111G= (p.Val371=)
c.1159G= (p.Val387=)
c.910G= (p.Val304=)
2g.219421496G>TCA350694836DESn.654G>T
n.568G>T
c.1180G>T (p.Val394Leu)
n.652G>T
n.575G>T
c.1177G>T (p.Val393Leu)
c.748G>T (p.Val250Leu)
c.1111G>T (p.Val371Leu)
c.1159G>T (p.Val387Leu)
c.910G>T (p.Val304Leu)
 ClinVar dbSNP
2g.219421497T>ACA350694841DESn.655T>A
n.569T>A
c.1181T>A (p.Val394Glu)
n.653T>A
n.576T>A
c.1178T>A (p.Val393Glu)
c.749T>A (p.Val250Glu)
c.1112T>A (p.Val371Glu)
c.1160T>A (p.Val387Glu)
c.911T>A (p.Val304Glu)
2g.219421497T>CCA350694844DESn.655T>C
n.569T>C
c.1181T>C (p.Val394Ala)
n.653T>C
n.576T>C
c.1178T>C (p.Val393Ala)
c.749T>C (p.Val250Ala)
c.1112T>C (p.Val371Ala)
c.1160T>C (p.Val387Ala)
c.911T>C (p.Val304Ala)
2g.219421497T>GCA350694846DESn.655T>G
n.569T>G
c.1181T>G (p.Val394Gly)
n.653T>G
n.576T>G
c.1178T>G (p.Val393Gly)
c.749T>G (p.Val250Gly)
c.1112T>G (p.Val371Gly)
c.1160T>G (p.Val387Gly)
c.911T>G (p.Val304Gly)
2g.219421497_219421498insCCACTACCCCCAGCA2533862773DESn.655_656insCCACTACCCCCAG
n.569_570insCCACTACCCCCAG
c.1181_1182insCCACTACCCCCAG (p.Lys395HisfsTer?)
n.653_654insCCACTACCCCCAG
n.576_577insCCACTACCCCCAG
c.1178_1179insCCACTACCCCCAG (p.Lys394HisfsTer?)
c.749_750insCCACTACCCCCAG (p.Lys251HisfsTer?)
c.1112_1113insCCACTACCCCCAG (p.Lys372HisfsTer?)
c.1160_1161insCCACTACCCCCAG (p.Lys388HisfsTer?)
c.911_912insCCACTACCCCCAG (p.Lys305HisfsTer?)
2g.219421498G>ACA431284471DESn.656G>A
n.570G>A
c.1182G>A (p.Val394=)
n.654G>A
n.577G>A
c.1179G>A (p.Val393=)
c.750G>A (p.Val250=)
c.1113G>A (p.Val371=)
c.1161G>A (p.Val387=)
c.912G>A (p.Val304=)
 dbSNP
2g.219421498G>CCA431284472DESn.656G>C
n.570G>C
c.1182G>C (p.Val394=)
n.654G>C
n.577G>C
c.1179G>C (p.Val393=)
c.750G>C (p.Val250=)
c.1113G>C (p.Val371=)
c.1161G>C (p.Val387=)
c.912G>C (p.Val304=)
 dbSNP
2g.219421498G=CA1329211324DESn.656G=
n.570G=
c.1182G= (p.Val394=)
n.654G=
n.577G=
c.1179G= (p.Val393=)
c.750G= (p.Val250=)
c.1113G= (p.Val371=)
c.1161G= (p.Val387=)
c.912G= (p.Val304=)
2g.219421498G>TCA431284473DESn.656G>T
n.570G>T
c.1182G>T (p.Val394=)
n.654G>T
n.577G>T
c.1179G>T (p.Val393=)
c.750G>T (p.Val250=)
c.1113G>T (p.Val371=)
c.1161G>T (p.Val387=)
c.912G>T (p.Val304=)
2g.219421499A>CCA350694854DESn.657A>C
n.571A>C
c.1183A>C (p.Lys395Gln)
n.655A>C
n.578A>C
c.1180A>C (p.Lys394Gln)
c.751A>C (p.Lys251Gln)
c.1114A>C (p.Lys372Gln)
c.1162A>C (p.Lys388Gln)
c.913A>C (p.Lys305Gln)
2g.219421499A>GCA350694857DESn.657A>G
n.571A>G
c.1183A>G (p.Lys395Glu)
n.655A>G
n.578A>G
c.1180A>G (p.Lys394Glu)
c.751A>G (p.Lys251Glu)
c.1114A>G (p.Lys372Glu)
c.1162A>G (p.Lys388Glu)
c.913A>G (p.Lys305Glu)
2g.219421499A>TCA350694852DESn.657A>T
n.571A>T
c.1183A>T (p.Lys395Ter)
n.655A>T
n.578A>T
c.1180A>T (p.Lys394Ter)
c.751A>T (p.Lys251Ter)
c.1114A>T (p.Lys372Ter)
c.1162A>T (p.Lys388Ter)
c.913A>T (p.Lys305Ter)
2g.219421499_219421500insCGCCGGGCGGGCA2508951310DESn.657_658insCGCCGGGCGGG
n.571_572insCGCCGGGCGGG
c.1183_1184insCGCCGGGCGGG (p.Lys395ThrfsTer?)
n.655_656insCGCCGGGCGGG
n.578_579insCGCCGGGCGGG
c.1180_1181insCGCCGGGCGGG (p.Lys394ThrfsTer?)
c.751_752insCGCCGGGCGGG (p.Lys251ThrfsTer?)
c.1114_1115insCGCCGGGCGGG (p.Lys372ThrfsTer?)
c.1162_1163insCGCCGGGCGGG (p.Lys388ThrfsTer?)
c.913_914insCGCCGGGCGGG (p.Lys305ThrfsTer?)
2g.219421500A>CCA350694861DESn.658A>C
n.572A>C
c.1184A>C (p.Lys395Thr)
n.656A>C
n.579A>C
c.1181A>C (p.Lys394Thr)
c.752A>C (p.Lys251Thr)
c.1115A>C (p.Lys372Thr)
c.1163A>C (p.Lys388Thr)
c.914A>C (p.Lys305Thr)
2g.219421500A>GCA350694864DESn.658A>G
n.572A>G
c.1184A>G (p.Lys395Arg)
n.656A>G
n.579A>G
c.1181A>G (p.Lys394Arg)
c.752A>G (p.Lys251Arg)
c.1115A>G (p.Lys372Arg)
c.1163A>G (p.Lys388Arg)
c.914A>G (p.Lys305Arg)
2g.219421500A>TCA350694865DESn.658A>T
n.572A>T
c.1184A>T (p.Lys395Met)
n.656A>T
n.579A>T
c.1181A>T (p.Lys394Met)
c.752A>T (p.Lys251Met)
c.1115A>T (p.Lys372Met)
c.1163A>T (p.Lys388Met)
c.914A>T (p.Lys305Met)
2g.219421501G>ACA431284474DESn.659G>A
n.573G>A
c.1185G>A (p.Lys395=)
n.657G>A
n.580G>A
c.1182G>A (p.Lys394=)
c.753G>A (p.Lys251=)
c.1116G>A (p.Lys372=)
c.1164G>A (p.Lys388=)
c.915G>A (p.Lys305=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.219421501G>CCA350694866DESn.659G>C
n.573G>C
c.1185G>C (p.Lys395Asn)
n.657G>C
n.580G>C
c.1182G>C (p.Lys394Asn)
c.753G>C (p.Lys251Asn)
c.1116G>C (p.Lys372Asn)
c.1164G>C (p.Lys388Asn)
c.915G>C (p.Lys305Asn)
2g.219421501G=CA1329211325DESn.659G=
n.573G=
c.1185G= (p.Lys395=)
n.657G=
n.580G=
c.1182G= (p.Lys394=)
c.753G= (p.Lys251=)
c.1116G= (p.Lys372=)
c.1164G= (p.Lys388=)
c.915G= (p.Lys305=)

Number of alleles fetched