Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53380690T>ACA413242224SMC1Ac.3548A>T (p.Gln1183Leu)
c.2780A>T (p.Gln927Leu)
c.3482A>T (p.Gln1161Leu)
c.768A>T
Xg.53380690T>CCA413242229SMC1Ac.3548A>G (p.Gln1183Arg)
c.2780A>G (p.Gln927Arg)
c.3482A>G (p.Gln1161Arg)
c.768A>G
Xg.53380690T>GCA413242226SMC1Ac.3548A>C (p.Gln1183Pro)
c.2780A>C (p.Gln927Pro)
c.3482A>C (p.Gln1161Pro)
c.768A>C
Xg.53380691G>ACA413242230SMC1Ac.3547C>T (p.Gln1183Ter)
c.2779C>T (p.Gln927Ter)
c.3481C>T (p.Gln1161Ter)
c.767C>T
Xg.53380691G>CCA413242232SMC1Ac.3547C>G (p.Gln1183Glu)
c.2779C>G (p.Gln927Glu)
c.3481C>G (p.Gln1161Glu)
c.767C>G
Xg.53380691G>TCA413242234SMC1Ac.3547C>A (p.Gln1183Lys)
c.2779C>A (p.Gln927Lys)
c.3481C>A (p.Gln1161Lys)
c.767C>A
Xg.53380692delCA2579615489SMC1Ac.3547del (p.Gln1183ArgfsTer29)
c.2779del (p.Gln927ArgfsTer29)
c.3481del (p.Gln1161ArgfsTer29)
c.767del
Xg.53380692G>ACA516553601SMC1Ac.3546C>T (p.Phe1182=)
c.2778C>T (p.Phe926=)
c.3480C>T (p.Phe1160=)
c.766C>T
Xg.53380692G>CCA413242237SMC1Ac.3546C>G (p.Phe1182Leu)
c.2778C>G (p.Phe926Leu)
c.3480C>G (p.Phe1160Leu)
c.766C>G
Xg.53380692G>TCA413242239SMC1Ac.3546C>A (p.Phe1182Leu)
c.2778C>A (p.Phe926Leu)
c.3480C>A (p.Phe1160Leu)
c.766C>A
Xg.53380693A>CCA413242243SMC1Ac.3545T>G (p.Phe1182Cys)
c.2777T>G (p.Phe926Cys)
c.3479T>G (p.Phe1160Cys)
c.765T>G
Xg.53380693A>GCA413242245SMC1Ac.3545T>C (p.Phe1182Ser)
c.2777T>C (p.Phe926Ser)
c.3479T>C (p.Phe1160Ser)
c.765T>C
Xg.53380693A>TCA413242248SMC1Ac.3545T>A (p.Phe1182Tyr)
c.2777T>A (p.Phe926Tyr)
c.3479T>A (p.Phe1160Tyr)
c.765T>A
Xg.53380694A>CCA413242251SMC1Ac.3544T>G (p.Phe1182Val)
c.2776T>G (p.Phe926Val)
c.3478T>G (p.Phe1160Val)
c.764T>G
Xg.53380694A>GCA413242253SMC1Ac.3544T>C (p.Phe1182Leu)
c.2776T>C (p.Phe926Leu)
c.3478T>C (p.Phe1160Leu)
c.764T>C
Xg.53380694A>TCA413242256SMC1Ac.3544T>A (p.Phe1182Ile)
c.2776T>A (p.Phe926Ile)
c.3478T>A (p.Phe1160Ile)
c.764T>A
Xg.53380695G>ACA516553609SMC1Ac.3543C>T (p.Asn1181=)
c.2775C>T (p.Asn925=)
c.3477C>T (p.Asn1159=)
c.763C>T
Xg.53380695G>CCA413242259SMC1Ac.3543C>G (p.Asn1181Lys)
c.2775C>G (p.Asn925Lys)
c.3477C>G (p.Asn1159Lys)
c.763C>G
Xg.53380695G>TCA413242261SMC1Ac.3543C>A (p.Asn1181Lys)
c.2775C>A (p.Asn925Lys)
c.3477C>A (p.Asn1159Lys)
c.763C>A
Xg.53380696T>ACA413242270SMC1Ac.3542A>T (p.Asn1181Ile)
c.2774A>T (p.Asn925Ile)
c.3476A>T (p.Asn1159Ile)
c.762A>T
Xg.53380696T>CCA413242264SMC1Ac.3542A>G (p.Asn1181Ser)
c.2774A>G (p.Asn925Ser)
c.3476A>G (p.Asn1159Ser)
c.762A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.53380696T>GCA413242267SMC1Ac.3542A>C (p.Asn1181Thr)
c.2774A>C (p.Asn925Thr)
c.3476A>C (p.Asn1159Thr)
c.762A>C
 gnomAD v4
Xg.53380696T=CA2429816958SMC1Ac.3542A= (p.Asn1181=)
c.2774A= (p.Asn925=)
c.3476A= (p.Asn1159=)
c.762A=
Xg.53380697T>ACA413242273SMC1Ac.3541A>T (p.Asn1181Tyr)
c.2773A>T (p.Asn925Tyr)
c.3475A>T (p.Asn1159Tyr)
c.761A>T
Xg.53380697T>CCA413242275SMC1Ac.3541A>G (p.Asn1181Asp)
c.2773A>G (p.Asn925Asp)
c.3475A>G (p.Asn1159Asp)
c.761A>G
Xg.53380697T>GCA413242283SMC1Ac.3541A>C (p.Asn1181His)
c.2773A>C (p.Asn925His)
c.3475A>C (p.Asn1159His)
c.761A>C
Xg.53380698G>ACA516553619SMC1Ac.3540C>T (p.Cys1180=)
c.2772C>T (p.Cys924=)
c.3474C>T (p.Cys1158=)
c.760C>T
Xg.53380698G>CCA413242286SMC1Ac.3540C>G (p.Cys1180Trp)
c.2772C>G (p.Cys924Trp)
c.3474C>G (p.Cys1158Trp)
c.760C>G
Xg.53380698G>TCA413242289SMC1Ac.3540C>A (p.Cys1180Ter)
c.2772C>A (p.Cys924Ter)
c.3474C>A (p.Cys1158Ter)
c.760C>A
Xg.53380699C>ACA413242298SMC1Ac.3539G>T (p.Cys1180Phe)
c.2771G>T (p.Cys924Phe)
c.3473G>T (p.Cys1158Phe)
c.759G>T
Xg.53380699C=CA2429816959SMC1Ac.3539G= (p.Cys1180=)
c.2771G= (p.Cys924=)
c.3473G= (p.Cys1158=)
c.759G=
Xg.53380699C>GCA413242300SMC1Ac.3539G>C (p.Cys1180Ser)
c.2771G>C (p.Cys924Ser)
c.3473G>C (p.Cys1158Ser)
c.759G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53380699C>TCA413242302SMC1Ac.3539G>A (p.Cys1180Tyr)
c.2771G>A (p.Cys924Tyr)
c.3473G>A (p.Cys1158Tyr)
c.759G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.53380700A>CCA413242305SMC1Ac.3538T>G (p.Cys1180Gly)
c.2770T>G (p.Cys924Gly)
c.3472T>G (p.Cys1158Gly)
c.758T>G
Xg.53380700A>GCA413242306SMC1Ac.3538T>C (p.Cys1180Arg)
c.2770T>C (p.Cys924Arg)
c.3472T>C (p.Cys1158Arg)
c.758T>C
Xg.53380700A>TCA413242313SMC1Ac.3538T>A (p.Cys1180Ser)
c.2770T>A (p.Cys924Ser)
c.3472T>A (p.Cys1158Ser)
c.758T>A
Xg.53380701A>CCA516553629SMC1Ac.3537T>G (p.Thr1179=)
c.2769T>G (p.Thr923=)
c.3471T>G (p.Thr1157=)
c.757T>G
Xg.53380701A>GCA516553631SMC1Ac.3537T>C (p.Thr1179=)
c.2769T>C (p.Thr923=)
c.3471T>C (p.Thr1157=)
c.757T>C
Xg.53380701A>TCA516553633SMC1Ac.3537T>A (p.Thr1179=)
c.2769T>A (p.Thr923=)
c.3471T>A (p.Thr1157=)
c.757T>A
Xg.53380702G>ACA413242323SMC1Ac.3536C>T (p.Thr1179Ile)
c.2768C>T (p.Thr923Ile)
c.3470C>T (p.Thr1157Ile)
c.756C>T
 gnomAD v4
Xg.53380702G>CCA413242322SMC1Ac.3536C>G (p.Thr1179Ser)
c.2768C>G (p.Thr923Ser)
c.3470C>G (p.Thr1157Ser)
c.756C>G
Xg.53380702G>TCA413242319SMC1Ac.3536C>A (p.Thr1179Asn)
c.2768C>A (p.Thr923Asn)
c.3470C>A (p.Thr1157Asn)
c.756C>A
Xg.53380703T>ACA413242325SMC1Ac.3535A>T (p.Thr1179Ser)
c.2767A>T (p.Thr923Ser)
c.3469A>T (p.Thr1157Ser)
c.755A>T
Xg.53380703T>CCA413242327SMC1Ac.3535A>G (p.Thr1179Ala)
c.2767A>G (p.Thr923Ala)
c.3469A>G (p.Thr1157Ala)
c.755A>G
Xg.53380703T>GCA413242330SMC1Ac.3535A>C (p.Thr1179Pro)
c.2767A>C (p.Thr923Pro)
c.3469A>C (p.Thr1157Pro)
c.755A>C
Xg.53380704C>ACA516553641SMC1Ac.3534G>T (p.Ser1178=)
c.2766G>T (p.Ser922=)
c.3468G>T (p.Ser1156=)
c.754G>T
 dbSNP
Xg.53380704C=CA2429816960SMC1Ac.3534G= (p.Ser1178=)
c.2766G= (p.Ser922=)
c.3468G= (p.Ser1156=)
c.754G=
Xg.53380704C>GCA10420265SMC1Ac.3534G>C (p.Ser1178=)
c.2766G>C (p.Ser922=)
c.3468G>C (p.Ser1156=)
c.754G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53380704C>TCA10420264SMC1Ac.3534G>A (p.Ser1178=)
c.2766G>A (p.Ser922=)
c.3468G>A (p.Ser1156=)
c.754G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53380705G>ACA413242339SMC1Ac.3533C>T (p.Ser1178Leu)
c.2765C>T (p.Ser922Leu)
c.3467C>T (p.Ser1156Leu)
c.753C>T
 ClinVar

Number of alleles fetched