Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
Xg.53380705G>CCA413242342SMC1Ac.3533C>G (p.Ser1178Trp)
c.2765C>G (p.Ser922Trp)
c.3467C>G (p.Ser1156Trp)
c.753C>G
Xg.53380705G>TCA413242345SMC1Ac.3533C>A (p.Ser1178Ter)
c.2765C>A (p.Ser922Ter)
c.3467C>A (p.Ser1156Ter)
c.753C>A
Xg.53380706A>CCA413242348SMC1Ac.3532T>G (p.Ser1178Ala)
c.2764T>G (p.Ser922Ala)
c.3466T>G (p.Ser1156Ala)
c.752T>G
Xg.53380706A>GCA413242354SMC1Ac.3532T>C (p.Ser1178Pro)
c.2764T>C (p.Ser922Pro)
c.3466T>C (p.Ser1156Pro)
c.752T>C
Xg.53380706A>TCA413242356SMC1Ac.3532T>A (p.Ser1178Thr)
c.2764T>A (p.Ser922Thr)
c.3466T>A (p.Ser1156Thr)
c.752T>A
Xg.53380707C>ACA413242362SMC1Ac.3531G>T (p.Gln1177His)
c.2763G>T (p.Gln921His)
c.3465G>T (p.Gln1155His)
c.751G>T
Xg.53380707C>GCA413242364SMC1Ac.3531G>C (p.Gln1177His)
c.2763G>C (p.Gln921His)
c.3465G>C (p.Gln1155His)
c.751G>C
Xg.53380707C>TCA516553654SMC1Ac.3531G>A (p.Gln1177=)
c.2763G>A (p.Gln921=)
c.3465G>A (p.Gln1155=)
c.751G>A
 gnomAD v4
Xg.53380708T>ACA413242371SMC1Ac.3530A>T (p.Gln1177Leu)
c.2762A>T (p.Gln921Leu)
c.3464A>T (p.Gln1155Leu)
c.750A>T
Xg.53380708T>CCA413242366SMC1Ac.3530A>G (p.Gln1177Arg)
c.2762A>G (p.Gln921Arg)
c.3464A>G (p.Gln1155Arg)
c.750A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53380708T>GCA413242369SMC1Ac.3530A>C (p.Gln1177Pro)
c.2762A>C (p.Gln921Pro)
c.3464A>C (p.Gln1155Pro)
c.750A>C
Xg.53380708T=CA2429816961SMC1Ac.3530A= (p.Gln1177=)
c.2762A= (p.Gln921=)
c.3464A= (p.Gln1155=)
c.750A=
Xg.53380709G>ACA413242373SMC1Ac.3529C>T (p.Gln1177Ter)
c.2761C>T (p.Gln921Ter)
c.3463C>T (p.Gln1155Ter)
c.749C>T
Xg.53380709G>CCA413242375SMC1Ac.3529C>G (p.Gln1177Glu)
c.2761C>G (p.Gln921Glu)
c.3463C>G (p.Gln1155Glu)
c.749C>G
Xg.53380709G>TCA413242378SMC1Ac.3529C>A (p.Gln1177Lys)
c.2761C>A (p.Gln921Lys)
c.3463C>A (p.Gln1155Lys)
c.749C>A
Xg.53380710C>ACA413242380SMC1Ac.3528G>T (p.Glu1176Asp)
c.2760G>T (p.Glu920Asp)
c.3462G>T (p.Glu1154Asp)
c.748G>T
Xg.53380710C>GCA413242383SMC1Ac.3528G>C (p.Glu1176Asp)
c.2760G>C (p.Glu920Asp)
c.3462G>C (p.Glu1154Asp)
c.748G>C
Xg.53380710C>TCA516553661SMC1Ac.3528G>A (p.Glu1176=)
c.2760G>A (p.Glu920=)
c.3462G>A (p.Glu1154=)
c.748G>A
 ClinVar gnomAD v4
Xg.53380711T>ACA413242390SMC1Ac.3527A>T (p.Glu1176Val)
c.2759A>T (p.Glu920Val)
c.3461A>T (p.Glu1154Val)
c.747A>T
Xg.53380711T>CCA413242391SMC1Ac.3527A>G (p.Glu1176Gly)
c.2759A>G (p.Glu920Gly)
c.3461A>G (p.Glu1154Gly)
c.747A>G
Xg.53380711T>GCA413242396SMC1Ac.3527A>C (p.Glu1176Ala)
c.2759A>C (p.Glu920Ala)
c.3461A>C (p.Glu1154Ala)
c.747A>C
Xg.53380712C>ACA413242399SMC1Ac.3526G>T (p.Glu1176Ter)
c.2758G>T (p.Glu920Ter)
c.3460G>T (p.Glu1154Ter)
c.746G>T
Xg.53380712C>GCA413242400SMC1Ac.3526G>C (p.Glu1176Gln)
c.2758G>C (p.Glu920Gln)
c.3460G>C (p.Glu1154Gln)
c.746G>C
Xg.53380712C>TCA413242403SMC1Ac.3526G>A (p.Glu1176Lys)
c.2758G>A (p.Glu920Lys)
c.3460G>A (p.Glu1154Lys)
c.746G>A
Xg.53380713C>ACA413242406SMC1Ac.3525G>T (p.Lys1175Asn)
c.2757G>T (p.Lys919Asn)
c.3459G>T (p.Lys1153Asn)
c.745G>T
Xg.53380713C>GCA413242408SMC1Ac.3525G>C (p.Lys1175Asn)
c.2757G>C (p.Lys919Asn)
c.3459G>C (p.Lys1153Asn)
c.745G>C
Xg.53380713C>TCA516553669SMC1Ac.3525G>A (p.Lys1175=)
c.2757G>A (p.Lys919=)
c.3459G>A (p.Lys1153=)
c.745G>A
Xg.53380714T>ACA413242417SMC1Ac.3524A>T (p.Lys1175Met)
c.2756A>T (p.Lys919Met)
c.3458A>T (p.Lys1153Met)
c.744A>T
Xg.53380714T>CCA413242412SMC1Ac.3524A>G (p.Lys1175Arg)
c.2756A>G (p.Lys919Arg)
c.3458A>G (p.Lys1153Arg)
c.744A>G
Xg.53380714T>GCA413242411SMC1Ac.3524A>C (p.Lys1175Thr)
c.2756A>C (p.Lys919Thr)
c.3458A>C (p.Lys1153Thr)
c.744A>C
Xg.53380715T>ACA413242426SMC1Ac.3523A>T (p.Lys1175Ter)
c.2755A>T (p.Lys919Ter)
c.3457A>T (p.Lys1153Ter)
c.743A>T
Xg.53380715T>CCA413242431SMC1Ac.3523A>G (p.Lys1175Glu)
c.2755A>G (p.Lys919Glu)
c.3457A>G (p.Lys1153Glu)
c.743A>G
Xg.53380715T>GCA413242428SMC1Ac.3523A>C (p.Lys1175Gln)
c.2755A>C (p.Lys919Gln)
c.3457A>C (p.Lys1153Gln)
c.743A>C
Xg.53380716G>ACA516553680SMC1Ac.3522C>T (p.Ile1174=)
c.2754C>T (p.Ile918=)
c.3456C>T (p.Ile1152=)
c.742C>T
Xg.53380716G>CCA413242433SMC1Ac.3522C>G (p.Ile1174Met)
c.2754C>G (p.Ile918Met)
c.3456C>G (p.Ile1152Met)
c.742C>G
Xg.53380716G>TCA516553683SMC1Ac.3522C>A (p.Ile1174=)
c.2754C>A (p.Ile918=)
c.3456C>A (p.Ile1152=)
c.742C>A
Xg.53380717A>CCA413242436SMC1Ac.3521T>G (p.Ile1174Ser)
c.2753T>G (p.Ile918Ser)
c.3455T>G (p.Ile1152Ser)
c.741T>G
Xg.53380717A>GCA413242438SMC1Ac.3521T>C (p.Ile1174Thr)
c.2753T>C (p.Ile918Thr)
c.3455T>C (p.Ile1152Thr)
c.741T>C
Xg.53380717A>TCA413242440SMC1Ac.3521T>A (p.Ile1174Asn)
c.2753T>A (p.Ile918Asn)
c.3455T>A (p.Ile1152Asn)
c.741T>A
Xg.53380718T>ACA413242443SMC1Ac.3520A>T (p.Ile1174Phe)
c.2752A>T (p.Ile918Phe)
c.3454A>T (p.Ile1152Phe)
c.740A>T
Xg.53380718T>CCA413242444SMC1Ac.3520A>G (p.Ile1174Val)
c.2752A>G (p.Ile918Val)
c.3454A>G (p.Ile1152Val)
c.740A>G
Xg.53380718T>GCA413242446SMC1Ac.3520A>C (p.Ile1174Leu)
c.2752A>C (p.Ile918Leu)
c.3454A>C (p.Ile1152Leu)
c.740A>C
Xg.53380719G>ACA516553692SMC1Ac.3519C>T (p.Tyr1173=)
c.2751C>T (p.Tyr917=)
c.3453C>T (p.Tyr1151=)
c.739C>T
 gnomAD v4
Xg.53380719G>CCA413242448SMC1Ac.3519C>G (p.Tyr1173Ter)
c.2751C>G (p.Tyr917Ter)
c.3453C>G (p.Tyr1151Ter)
c.739C>G
Xg.53380719G>TCA413242450SMC1Ac.3519C>A (p.Tyr1173Ter)
c.2751C>A (p.Tyr917Ter)
c.3453C>A (p.Tyr1151Ter)
c.739C>A
Xg.53380720T>ACA413242452SMC1Ac.3518A>T (p.Tyr1173Phe)
c.2750A>T (p.Tyr917Phe)
c.3452A>T (p.Tyr1151Phe)
c.738A>T
Xg.53380720T>CCA413242454SMC1Ac.3518A>G (p.Tyr1173Cys)
c.2750A>G (p.Tyr917Cys)
c.3452A>G (p.Tyr1151Cys)
c.738A>G
Xg.53380720T>GCA413242456SMC1Ac.3518A>C (p.Tyr1173Ser)
c.2750A>C (p.Tyr917Ser)
c.3452A>C (p.Tyr1151Ser)
c.738A>C
Xg.53380721A>CCA413242458SMC1Ac.3517T>G (p.Tyr1173Asp)
c.2749T>G (p.Tyr917Asp)
c.3451T>G (p.Tyr1151Asp)
c.737T>G
Xg.53380721A>GCA413242460SMC1Ac.3517T>C (p.Tyr1173His)
c.2749T>C (p.Tyr917His)
c.3451T>C (p.Tyr1151His)
c.737T>C
Xg.53380721A>TCA413242463SMC1Ac.3517T>A (p.Tyr1173Asn)
c.2749T>A (p.Tyr917Asn)
c.3451T>A (p.Tyr1151Asn)
c.737T>A
Xg.53380722A>CCA413242466SMC1Ac.3516T>G (p.Asn1172Lys)
c.2748T>G (p.Asn916Lys)
c.3450T>G (p.Asn1150Lys)
c.736T>G
Xg.53380722A>GCA516553702SMC1Ac.3516T>C (p.Asn1172=)
c.2748T>C (p.Asn916=)
c.3450T>C (p.Asn1150=)
c.736T>C
Xg.53380722A>TCA413242468SMC1Ac.3516T>A (p.Asn1172Lys)
c.2748T>A (p.Asn916Lys)
c.3450T>A (p.Asn1150Lys)
c.736T>A
Xg.53380723T>ACA413242470SMC1Ac.3515A>T (p.Asn1172Ile)
c.2747A>T (p.Asn916Ile)
c.3449A>T (p.Asn1150Ile)
c.735A>T
Xg.53380723T>CCA413242472SMC1Ac.3515A>G (p.Asn1172Ser)
c.2747A>G (p.Asn916Ser)
c.3449A>G (p.Asn1150Ser)
c.735A>G
Xg.53380723T>GCA413242475SMC1Ac.3515A>C (p.Asn1172Thr)
c.2747A>C (p.Asn916Thr)
c.3449A>C (p.Asn1150Thr)
c.735A>C
Xg.53380724T>ACA413242479SMC1Ac.3514A>T (p.Asn1172Tyr)
c.2746A>T (p.Asn916Tyr)
c.3448A>T (p.Asn1150Tyr)
c.734A>T
Xg.53380724T>CCA413242480SMC1Ac.3514A>G (p.Asn1172Asp)
c.2746A>G (p.Asn916Asp)
c.3448A>G (p.Asn1150Asp)
c.734A>G
Xg.53380724T>GCA413242482SMC1Ac.3514A>C (p.Asn1172His)
c.2746A>C (p.Asn916His)
c.3448A>C (p.Asn1150His)
c.734A>C
Xg.53380725T>ACA516553712SMC1Ac.3513A>T (p.Ala1171=)
c.2745A>T (p.Ala915=)
c.3447A>T (p.Ala1149=)
c.733A>T
Xg.53380725T>CCA516553714SMC1Ac.3513A>G (p.Ala1171=)
c.2745A>G (p.Ala915=)
c.3447A>G (p.Ala1149=)
c.733A>G
Xg.53380725T>GCA516553716SMC1Ac.3513A>C (p.Ala1171=)
c.2745A>C (p.Ala915=)
c.3447A>C (p.Ala1149=)
c.733A>C
Xg.53380726G>ACA413242485SMC1Ac.3512C>T (p.Ala1171Val)
c.2744C>T (p.Ala915Val)
c.3446C>T (p.Ala1149Val)
c.732C>T
 gnomAD v4
Xg.53380726G>CCA413242486SMC1Ac.3512C>G (p.Ala1171Gly)
c.2744C>G (p.Ala915Gly)
c.3446C>G (p.Ala1149Gly)
c.732C>G
Xg.53380726G>TCA413242488SMC1Ac.3512C>A (p.Ala1171Glu)
c.2744C>A (p.Ala915Glu)
c.3446C>A (p.Ala1149Glu)
c.732C>A
 gnomAD v4
Xg.53380727C>ACA413242490SMC1Ac.3511G>T (p.Ala1171Ser)
c.2743G>T (p.Ala915Ser)
c.3445G>T (p.Ala1149Ser)
c.731G>T
Xg.53380727C>GCA413242492SMC1Ac.3511G>C (p.Ala1171Pro)
c.2743G>C (p.Ala915Pro)
c.3445G>C (p.Ala1149Pro)
c.731G>C
Xg.53380727C>TCA413242494SMC1Ac.3511G>A (p.Ala1171Thr)
c.2743G>A (p.Ala915Thr)
c.3445G>A (p.Ala1149Thr)
c.731G>A
 gnomAD v4
Xg.53380728delCA2579615490SMC1Ac.3511del (p.Ala1171GlnfsTer?)
c.2743del (p.Ala915GlnfsTer?)
c.3445del (p.Ala1149GlnfsTer?)
c.731del
Xg.53380728C>ACA516553724SMC1Ac.3510G>T (p.Val1170=)
c.2742G>T (p.Val914=)
c.3444G>T (p.Val1148=)
c.730G>T
Xg.53380728C>GCA516553725SMC1Ac.3510G>C (p.Val1170=)
c.2742G>C (p.Val914=)
c.3444G>C (p.Val1148=)
c.730G>C
Xg.53380728C>TCA516553727SMC1Ac.3510G>A (p.Val1170=)
c.2742G>A (p.Val914=)
c.3444G>A (p.Val1148=)
c.730G>A
Xg.53380729A>CCA413242501SMC1Ac.3509T>G (p.Val1170Gly)
c.2741T>G (p.Val914Gly)
c.3443T>G (p.Val1148Gly)
c.729T>G
Xg.53380729A>GCA413242497SMC1Ac.3509T>C (p.Val1170Ala)
c.2741T>C (p.Val914Ala)
c.3443T>C (p.Val1148Ala)
c.729T>C
Xg.53380729A>TCA413242498SMC1Ac.3509T>A (p.Val1170Glu)
c.2741T>A (p.Val914Glu)
c.3443T>A (p.Val1148Glu)
c.729T>A
Xg.53380730C>ACA413242503SMC1Ac.3508G>T (p.Val1170Leu)
c.2740G>T (p.Val914Leu)
c.3442G>T (p.Val1148Leu)
c.728G>T
Xg.53380730C>GCA413242505SMC1Ac.3508G>C (p.Val1170Leu)
c.2740G>C (p.Val914Leu)
c.3442G>C (p.Val1148Leu)
c.728G>C
Xg.53380730C>TCA413242507SMC1Ac.3508G>A (p.Val1170Met)
c.2740G>A (p.Val914Met)
c.3442G>A (p.Val1148Met)
c.728G>A
Xg.53380731C>ACA413242509SMC1Ac.3508-1G>T (n.3508-1G>T)
c.2740-1G>T (n.2740-1G>T)
c.3442-1G>T (n.3442-1G>T)
c.728-1G>T
Xg.53380731C>GCA413242512SMC1Ac.3508-1G>C (n.3508-1G>C)
c.2740-1G>C (n.2740-1G>C)
c.3442-1G>C (n.3442-1G>C)
c.728-1G>C
Xg.53380731C>TCA413242514SMC1Ac.3508-1G>A (n.3508-1G>A)
c.2740-1G>A (n.2740-1G>A)
c.3442-1G>A (n.3442-1G>A)
c.728-1G>A
Xg.53380732T>ACA413242516SMC1Ac.3508-2A>T (n.3508-2A>T)
c.2740-2A>T (n.2740-2A>T)
c.3442-2A>T (n.3442-2A>T)
c.728-2A>T
Xg.53380732T>CCA413242518SMC1Ac.3508-2A>G (n.3508-2A>G)
c.2740-2A>G (n.2740-2A>G)
c.3442-2A>G (n.3442-2A>G)
c.728-2A>G
 ClinVar dbSNP
Xg.53380732T>GCA413242520SMC1Ac.3508-2A>C (n.3508-2A>C)
c.2740-2A>C (n.2740-2A>C)
c.3442-2A>C (n.3442-2A>C)
c.728-2A>C
Xg.53380734T>CCA2693803106SMC1Ac.3508-4A>G (n.3508-4A>G)
c.2740-4A>G (n.2740-4A>G)
c.3442-4A>G (n.3442-4A>G)
c.728-4A>G
 gnomAD v4
Xg.53380735G>ACA641885884SMC1Ac.3508-5C>T (n.3508-5C>T)
c.2740-5C>T (n.2740-5C>T)
c.3442-5C>T (n.3442-5C>T)
c.728-5C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.53380735G=CA2429816962SMC1Ac.3508-5C= (n.3508-5C=)
c.2740-5C= (n.2740-5C=)
c.3442-5C= (n.3442-5C=)
c.728-5C=
Xg.53380735G>TCA329906062SMC1Ac.3508-5C>A (n.3508-5C>A)
c.2740-5C>A (n.2740-5C>A)
c.3442-5C>A (n.3442-5C>A)
c.728-5C>A
 dbSNP gnomAD v4
Xg.53380737delCA2693803107SMC1Ac.3508-5del (n.3508-5del)
c.2740-5del (n.2740-5del)
c.3442-5del (n.3442-5del)
c.728-5del
 gnomAD v4
Xg.53380736G>ACA2580101186SMC1Ac.3508-6C>T (n.3508-6C>T)
c.2740-6C>T (n.2740-6C>T)
c.3442-6C>T (n.3442-6C>T)
c.728-6C>T
 ClinVar
Xg.53380737G>ACA641885888SMC1Ac.3508-7C>T (n.3508-7C>T)
c.2740-7C>T (n.2740-7C>T)
c.3442-7C>T (n.3442-7C>T)
c.728-7C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.53380737G=CA2429816963SMC1Ac.3508-7C= (n.3508-7C=)
c.2740-7C= (n.2740-7C=)
c.3442-7C= (n.3442-7C=)
c.728-7C=
Xg.53380737G>TCA2693803108SMC1Ac.3508-7C>A (n.3508-7C>A)
c.2740-7C>A (n.2740-7C>A)
c.3442-7C>A (n.3442-7C>A)
c.728-7C>A
 gnomAD v4
Xg.53380740delCA2579615491SMC1Ac.3508-8del (n.3508-8del)
c.2740-8del (n.2740-8del)
c.3442-8del (n.3442-8del)
c.728-8del
 gnomAD v4
Xg.53380739A>GCA2693803109SMC1Ac.3508-9T>C (n.3508-9T>C)
c.2740-9T>C (n.2740-9T>C)
c.3442-9T>C (n.3442-9T>C)
c.728-9T>C
 gnomAD v4
Xg.53380740A=CA2429816964SMC1Ac.3508-10T= (n.3508-10T=)
c.2740-10T= (n.2740-10T=)
c.3442-10T= (n.3442-10T=)
c.728-10T=
Xg.53380740A>GCA641885889SMC1Ac.3508-10T>C (n.3508-10T>C)
c.2740-10T>C (n.2740-10T>C)
c.3442-10T>C (n.3442-10T>C)
c.728-10T>C
 dbSNP gnomAD v2 gnomAD v4
Xg.53380741G>CCA2693803110SMC1Ac.3508-11C>G (n.3508-11C>G)
c.2740-11C>G (n.2740-11C>G)
c.3442-11C>G (n.3442-11C>G)
c.728-11C>G
 gnomAD v4
Xg.53380741G>TCA2693803111SMC1Ac.3508-11C>A (n.3508-11C>A)
c.2740-11C>A (n.2740-11C>A)
c.3442-11C>A (n.3442-11C>A)
c.728-11C>A
 gnomAD v4
Xg.53380742G>TCA2693803112SMC1Ac.3508-12C>A (n.3508-12C>A)
c.2740-12C>A (n.2740-12C>A)
c.3442-12C>A (n.3442-12C>A)
c.728-12C>A
 gnomAD v4
Xg.53380743C>ACA2580101187SMC1Ac.3508-13G>T (n.3508-13G>T)
c.2740-13G>T (n.2740-13G>T)
c.3442-13G>T (n.3442-13G>T)
c.728-13G>T
 ClinVar gnomAD v4
Xg.53380743C>TCA2579615492SMC1Ac.3508-13G>A (n.3508-13G>A)
c.2740-13G>A (n.2740-13G>A)
c.3442-13G>A (n.3442-13G>A)
c.728-13G>A
 gnomAD v4
Xg.53380744delCA2693803113SMC1Ac.3508-13del (n.3508-13del)
c.2740-13del (n.2740-13del)
c.3442-13del (n.3442-13del)
c.728-13del
 gnomAD v4
Xg.53380744C=CA2429816965SMC1Ac.3508-14G= (n.3508-14G=)
c.2740-14G= (n.2740-14G=)
c.3442-14G= (n.3442-14G=)
c.728-14G=
Xg.53380744C>TCA10420266SMC1Ac.3508-14G>A (n.3508-14G>A)
c.2740-14G>A (n.2740-14G>A)
c.3442-14G>A (n.3442-14G>A)
c.728-14G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53380745G>ACA10420267SMC1Ac.3508-15C>T (n.3508-15C>T)
c.2740-15C>T (n.2740-15C>T)
c.3442-15C>T (n.3442-15C>T)
c.728-15C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53380745G=CA2429816966SMC1Ac.3508-15C= (n.3508-15C=)
c.2740-15C= (n.2740-15C=)
c.3442-15C= (n.3442-15C=)
c.728-15C=
Xg.53380745G>TCA658090785SMC1Ac.3508-15C>A (n.3508-15C>A)
c.2740-15C>A (n.2740-15C>A)
c.3442-15C>A (n.3442-15C>A)
c.728-15C>A
 gnomAD v4 COSMIC
Xg.53380746C>TCA2693803114SMC1Ac.3508-16G>A (n.3508-16G>A)
c.2740-16G>A (n.2740-16G>A)
c.3442-16G>A (n.3442-16G>A)
c.728-16G>A
 gnomAD v4
Xg.53380747C=CA2429816967SMC1Ac.3508-17G= (n.3508-17G=)
c.2740-17G= (n.2740-17G=)
c.3442-17G= (n.3442-17G=)
c.728-17G=
Xg.53380747C>GCA1133167394SMC1Ac.3508-17G>C (n.3508-17G>C)
c.2740-17G>C (n.2740-17G>C)
c.3442-17G>C (n.3442-17G>C)
c.728-17G>C
 dbSNP gnomAD v3 gnomAD v4
Xg.53380747C>TCA2693803115SMC1Ac.3508-17G>A (n.3508-17G>A)
c.2740-17G>A (n.2740-17G>A)
c.3442-17G>A (n.3442-17G>A)
c.728-17G>A
 gnomAD v4
Xg.53380748A=CA2429816968SMC1Ac.3508-18T= (n.3508-18T=)
c.2740-18T= (n.2740-18T=)
c.3442-18T= (n.3442-18T=)
c.728-18T=
Xg.53380748A>GCA641885901SMC1Ac.3508-18T>C (n.3508-18T>C)
c.2740-18T>C (n.2740-18T>C)
c.3442-18T>C (n.3442-18T>C)
c.728-18T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53380749G>TCA2693803116SMC1Ac.3508-19C>A (n.3508-19C>A)
c.2740-19C>A (n.2740-19C>A)
c.3442-19C>A (n.3442-19C>A)
c.728-19C>A
 gnomAD v4
Xg.53380750G>ACA10420268SMC1Ac.3508-20C>T (n.3508-20C>T)
c.2740-20C>T (n.2740-20C>T)
c.3442-20C>T (n.3442-20C>T)
c.728-20C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53380750G=CA2429816969SMC1Ac.3508-20C= (n.3508-20C=)
c.2740-20C= (n.2740-20C=)
c.3442-20C= (n.3442-20C=)
c.728-20C=
Xg.53380750G>TCA2693803117SMC1Ac.3508-20C>A (n.3508-20C>A)
c.2740-20C>A (n.2740-20C>A)
c.3442-20C>A (n.3442-20C>A)
c.728-20C>A
 gnomAD v4
Xg.53380752A>GCA2693803118SMC1Ac.3508-22T>C (n.3508-22T>C)
c.2740-22T>C (n.2740-22T>C)
c.3442-22T>C (n.3442-22T>C)
c.728-22T>C
 gnomAD v4
Xg.53380753delCA2693803119SMC1Ac.3508-23del (n.3508-23del)
c.2740-23del (n.2740-23del)
c.3442-23del (n.3442-23del)
c.728-23del
 gnomAD v4
Xg.53380753C>ACA10420269SMC1Ac.3508-23G>T (n.3508-23G>T)
c.2740-23G>T (n.2740-23G>T)
c.3442-23G>T (n.3442-23G>T)
c.728-23G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53380753C=CA2429816970SMC1Ac.3508-23G= (n.3508-23G=)
c.2740-23G= (n.2740-23G=)
c.3442-23G= (n.3442-23G=)
c.728-23G=
Xg.53380753C>TCA2429816971SMC1Ac.3508-23G>A (n.3508-23G>A)
c.2740-23G>A (n.2740-23G>A)
c.3442-23G>A (n.3442-23G>A)
c.728-23G>A
 dbSNP gnomAD v4
Xg.53380755delCA2579615493SMC1Ac.3508-24del (n.3508-24del)
c.2740-24del (n.2740-24del)
c.3442-24del (n.3442-24del)
c.728-24del
Xg.53380755T>ACA2693803120SMC1Ac.3508-25A>T (n.3508-25A>T)
c.2740-25A>T (n.2740-25A>T)
c.3442-25A>T (n.3442-25A>T)
c.728-25A>T
 gnomAD v4
Xg.53380755T>CCA10420270SMC1Ac.3508-25A>G (n.3508-25A>G)
c.2740-25A>G (n.2740-25A>G)
c.3442-25A>G (n.3442-25A>G)
c.728-25A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53380755T=CA2429816972SMC1Ac.3508-25A= (n.3508-25A=)
c.2740-25A= (n.2740-25A=)
c.3442-25A= (n.3442-25A=)
c.728-25A=
Xg.53380756dupCA876270039SMC1Ac.3508-26dup (n.3508-26dup)
c.2740-26dup (n.2740-26dup)
c.3442-26dup (n.3442-26dup)
c.728-26dup
 dbSNP
Xg.53380757G>TCA2579615494SMC1Ac.3508-27C>A (n.3508-27C>A)
c.2740-27C>A (n.2740-27C>A)
c.3442-27C>A (n.3442-27C>A)
c.728-27C>A
 gnomAD v4
Xg.53380758C>ACA2693803121SMC1Ac.3508-28G>T (n.3508-28G>T)
c.2740-28G>T (n.2740-28G>T)
c.3442-28G>T (n.3442-28G>T)
c.728-28G>T
 gnomAD v4
Xg.53380758C>GCA2693803122SMC1Ac.3508-28G>C (n.3508-28G>C)
c.2740-28G>C (n.2740-28G>C)
c.3442-28G>C (n.3442-28G>C)
c.728-28G>C
 gnomAD v4
Xg.53380759A=CA2429816973SMC1Ac.3508-29T= (n.3508-29T=)
c.2740-29T= (n.2740-29T=)
c.3442-29T= (n.3442-29T=)
c.728-29T=
Xg.53380759A>GCA329906063SMC1Ac.3508-29T>C (n.3508-29T>C)
c.2740-29T>C (n.2740-29T>C)
c.3442-29T>C (n.3442-29T>C)
c.728-29T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53380760_53380761delinsAGCA2429816974SMC1Ac.3508-31_3508-30delinsCT (n.3508-31_3508-30delinsCT)
c.2740-31_2740-30delinsCT (n.2740-31_2740-30delinsCT)
c.3442-31_3442-30delinsCT (n.3442-31_3442-30delinsCT)
c.728-31_728-30delinsCT
Xg.53380762delCA2429816975SMC1Ac.3508-31del (n.3508-31del)
c.2740-31del (n.2740-31del)
c.3442-31del (n.3442-31del)
c.728-31del
 dbSNP
Xg.53380762G>ACA329906064SMC1Ac.3508-32C>T (n.3508-32C>T)
c.2740-32C>T (n.2740-32C>T)
c.3442-32C>T (n.3442-32C>T)
c.728-32C>T
 dbSNP gnomAD v4
Xg.53380762G=CA2429816976SMC1Ac.3508-32C= (n.3508-32C=)
c.2740-32C= (n.2740-32C=)
c.3442-32C= (n.3442-32C=)
c.728-32C=
Xg.53380762G>TCA2693803123SMC1Ac.3508-32C>A (n.3508-32C>A)
c.2740-32C>A (n.2740-32C>A)
c.3442-32C>A (n.3442-32C>A)
c.728-32C>A
 gnomAD v4
Xg.53380764T>ACA2693803124SMC1Ac.3508-34A>T (n.3508-34A>T)
c.2740-34A>T (n.2740-34A>T)
c.3442-34A>T (n.3442-34A>T)
c.728-34A>T
 gnomAD v4
Xg.53380765C>ACA2693803125SMC1Ac.3508-35G>T (n.3508-35G>T)
c.2740-35G>T (n.2740-35G>T)
c.3442-35G>T (n.3442-35G>T)
c.728-35G>T
 gnomAD v4
Xg.53380765C=CA2429816977SMC1Ac.3508-35G= (n.3508-35G=)
c.2740-35G= (n.2740-35G=)
c.3442-35G= (n.3442-35G=)
c.728-35G=
Xg.53380765C>GCA641885913SMC1Ac.3508-35G>C (n.3508-35G>C)
c.2740-35G>C (n.2740-35G>C)
c.3442-35G>C (n.3442-35G>C)
c.728-35G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53380765C>TCA10420271SMC1Ac.3508-35G>A (n.3508-35G>A)
c.2740-35G>A (n.2740-35G>A)
c.3442-35G>A (n.3442-35G>A)
c.728-35G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53380766A>GCA2579615495SMC1Ac.3508-36T>C (n.3508-36T>C)
c.2740-36T>C (n.2740-36T>C)
c.3442-36T>C (n.3442-36T>C)
c.728-36T>C
Xg.53380769C>TCA2579615496SMC1Ac.3508-39G>A (n.3508-39G>A)
c.2740-39G>A (n.2740-39G>A)
c.3442-39G>A (n.3442-39G>A)
c.728-39G>A
 gnomAD v4
Xg.53380770C=CA2429816978SMC1Ac.3508-40G= (n.3508-40G=)
c.2740-40G= (n.2740-40G=)
c.3442-40G= (n.3442-40G=)
c.728-40G=
Xg.53380770C>TCA10420272SMC1Ac.3508-40G>A (n.3508-40G>A)
c.2740-40G>A (n.2740-40G>A)
c.3442-40G>A (n.3442-40G>A)
c.728-40G>A
 dbSNP ExAC gnomAD v2
Xg.53380772T>ACA2693803126SMC1Ac.3508-42A>T (n.3508-42A>T)
c.2740-42A>T (n.2740-42A>T)
c.3442-42A>T (n.3442-42A>T)
c.728-42A>T
 gnomAD v4
Xg.53380773_53380775delinsAACCA2429816979SMC1Ac.3508-45_3508-43delinsGTT (n.3508-45_3508-43delinsGTT)
c.2740-45_2740-43delinsGTT (n.2740-45_2740-43delinsGTT)
c.3442-45_3442-43delinsGTT (n.3442-45_3442-43delinsGTT)
c.728-45_728-43delinsGTT
Xg.53380775_53380776delCA2429816980SMC1Ac.3508-45_3508-44del (n.3508-45_3508-44del)
c.2740-45_2740-44del (n.2740-45_2740-44del)
c.3442-45_3442-44del (n.3442-45_3442-44del)
c.728-45_728-44del
 dbSNP gnomAD v4
Xg.53380776A>GCA2579615497SMC1Ac.3508-46T>C (n.3508-46T>C)
c.2740-46T>C (n.2740-46T>C)
c.3442-46T>C (n.3442-46T>C)
c.728-46T>C
Xg.53380777G>ACA2693803127SMC1Ac.3508-47C>T (n.3508-47C>T)
c.2740-47C>T (n.2740-47C>T)
c.3442-47C>T (n.3442-47C>T)
c.728-47C>T
 gnomAD v4
Xg.53380777G>TCA2579615498SMC1Ac.3508-47C>A (n.3508-47C>A)
c.2740-47C>A (n.2740-47C>A)
c.3442-47C>A (n.3442-47C>A)
c.728-47C>A
 gnomAD v4
Xg.53380778T>CCA2579615499SMC1Ac.3508-48A>G (n.3508-48A>G)
c.2740-48A>G (n.2740-48A>G)
c.3442-48A>G (n.3442-48A>G)
c.728-48A>G
 gnomAD v4
Xg.53380779C>ACA2429816982SMC1Ac.3508-49G>T (n.3508-49G>T)
c.2740-49G>T (n.2740-49G>T)
c.3442-49G>T (n.3442-49G>T)
c.728-49G>T
 dbSNP gnomAD v4
Xg.53380779C=CA2429816981SMC1Ac.3508-49G= (n.3508-49G=)
c.2740-49G= (n.2740-49G=)
c.3442-49G= (n.3442-49G=)
c.728-49G=
Xg.53380782delCA2579615500SMC1Ac.3508-49del (n.3508-49del)
c.2740-49del (n.2740-49del)
c.3442-49del (n.3442-49del)
c.728-49del
 gnomAD v4
Xg.53380780C>ACA2693803128SMC1Ac.3508-50G>T (n.3508-50G>T)
c.2740-50G>T (n.2740-50G>T)
c.3442-50G>T (n.3442-50G>T)
c.728-50G>T
 gnomAD v4
Xg.53380781C>ACA2693803129SMC1Ac.3508-51G>T (n.3508-51G>T)
c.2740-51G>T (n.2740-51G>T)
c.3442-51G>T (n.3442-51G>T)
c.728-51G>T
 gnomAD v4
Xg.53380781C=CA2429816983SMC1Ac.3508-51G= (n.3508-51G=)
c.2740-51G= (n.2740-51G=)
c.3442-51G= (n.3442-51G=)
c.728-51G=
Xg.53380781C>TCA2429816984SMC1Ac.3508-51G>A (n.3508-51G>A)
c.2740-51G>A (n.2740-51G>A)
c.3442-51G>A (n.3442-51G>A)
c.728-51G>A
 dbSNP gnomAD v4
Xg.53380782C>TCA2693803130SMC1Ac.3508-52G>A (n.3508-52G>A)
c.2740-52G>A (n.2740-52G>A)
c.3442-52G>A (n.3442-52G>A)
c.728-52G>A
 gnomAD v4
Xg.53380784G>ACA2429816986SMC1Ac.3508-54C>T (n.3508-54C>T)
c.2740-54C>T (n.2740-54C>T)
c.3442-54C>T (n.3442-54C>T)
c.728-54C>T
 dbSNP gnomAD v4
Xg.53380784G=CA2429816985SMC1Ac.3508-54C= (n.3508-54C=)
c.2740-54C= (n.2740-54C=)
c.3442-54C= (n.3442-54C=)
c.728-54C=
Xg.53380784G>TCA2579615501SMC1Ac.3508-54C>A (n.3508-54C>A)
c.2740-54C>A (n.2740-54C>A)
c.3442-54C>A (n.3442-54C>A)
c.728-54C>A
 gnomAD v4
Xg.53380785T>GCA2693803131SMC1Ac.3508-55A>C (n.3508-55A>C)
c.2740-55A>C (n.2740-55A>C)
c.3442-55A>C (n.3442-55A>C)
c.728-55A>C
 gnomAD v4
Xg.53380786A=CA2429816987SMC1Ac.3508-56T= (n.3508-56T=)
c.2740-56T= (n.2740-56T=)
c.3442-56T= (n.3442-56T=)
c.728-56T=
Xg.53380786A>GCA641885914SMC1Ac.3508-56T>C (n.3508-56T>C)
c.2740-56T>C (n.2740-56T>C)
c.3442-56T>C (n.3442-56T>C)
c.728-56T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53380786A>TCA2693803132SMC1Ac.3508-56T>A (n.3508-56T>A)
c.2740-56T>A (n.2740-56T>A)
c.3442-56T>A (n.3442-56T>A)
c.728-56T>A
 gnomAD v4
Xg.53380789T>CCA2579615502SMC1Ac.3508-59A>G (n.3508-59A>G)
c.2740-59A>G (n.2740-59A>G)
c.3442-59A>G (n.3442-59A>G)
c.728-59A>G
Xg.53380790T>CCA2429816988SMC1Ac.3508-60A>G (n.3508-60A>G)
c.2740-60A>G (n.2740-60A>G)
c.3442-60A>G (n.3442-60A>G)
c.728-60A>G
 dbSNP gnomAD v4
Xg.53380790T=CA2429816989SMC1Ac.3508-60A= (n.3508-60A=)
c.2740-60A= (n.2740-60A=)
c.3442-60A= (n.3442-60A=)
c.728-60A=
Xg.53380791C>GCA2693803133SMC1Ac.3508-61G>C (n.3508-61G>C)
c.2740-61G>C (n.2740-61G>C)
c.3442-61G>C (n.3442-61G>C)
c.728-61G>C
 gnomAD v4
Xg.53380792C>ACA2579615503SMC1Ac.3508-62G>T (n.3508-62G>T)
c.2740-62G>T (n.2740-62G>T)
c.3442-62G>T (n.3442-62G>T)
c.728-62G>T
Xg.53380792C>TCA2693803134SMC1Ac.3508-62G>A (n.3508-62G>A)
c.2740-62G>A (n.2740-62G>A)
c.3442-62G>A (n.3442-62G>A)
c.728-62G>A
 gnomAD v4
Xg.53380794G>TCA2693803135SMC1Ac.3508-64C>A (n.3508-64C>A)
c.2740-64C>A (n.2740-64C>A)
c.3442-64C>A (n.3442-64C>A)
c.728-64C>A
 gnomAD v4

Number of alleles fetched