Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53380677_53380678del | CA2579615486 | SMC1A | c.3566_3567del (p.Leu1189GlnfsTer17) c.2798_2799del (p.Leu933GlnfsTer17) c.3500_3501del (p.Leu1167GlnfsTer17) c.786_787del | |
X | g.53380676A>C | CA413242150 | SMC1A | c.3562T>G (p.Ser1188Ala) c.2794T>G (p.Ser932Ala) c.3496T>G (p.Ser1166Ala) c.782T>G | |
X | g.53380676A>G | CA413242151 | SMC1A | c.3562T>C (p.Ser1188Pro) c.2794T>C (p.Ser932Pro) c.3496T>C (p.Ser1166Pro) c.782T>C | |
X | g.53380676A>T | CA413242149 | SMC1A | c.3562T>A (p.Ser1188Thr) c.2794T>A (p.Ser932Thr) c.3496T>A (p.Ser1166Thr) c.782T>A | |
X | g.53380677G>A | CA516553537 | SMC1A | c.3561C>T (p.Ile1187=) c.2793C>T (p.Ile931=) c.3495C>T (p.Ile1165=) c.781C>T | |
X | g.53380677G>C | CA413242152 | SMC1A | c.3561C>G (p.Ile1187Met) c.2793C>G (p.Ile931Met) c.3495C>G (p.Ile1165Met) c.781C>G | |
X | g.53380677G>T | CA516553538 | SMC1A | c.3561C>A (p.Ile1187=) c.2793C>A (p.Ile931=) c.3495C>A (p.Ile1165=) c.781C>A | |
X | g.53380677_53380688del | CA2555886609 | SMC1A | c.3550_3561del (p.Ala1184_Ile1187del) c.2782_2793del (p.Ala928_Ile931del) c.3484_3495del (p.Ala1162_Ile1165del) c.770_781del | |
X | g.53380678A>C | CA413242153 | SMC1A | c.3560T>G (p.Ile1187Ser) c.2792T>G (p.Ile931Ser) c.3494T>G (p.Ile1165Ser) c.780T>G | |
X | g.53380678A>G | CA413242154 | SMC1A | c.3560T>C (p.Ile1187Thr) c.2792T>C (p.Ile931Thr) c.3494T>C (p.Ile1165Thr) c.780T>C | |
X | g.53380678A>T | CA413242155 | SMC1A | c.3560T>A (p.Ile1187Asn) c.2792T>A (p.Ile931Asn) c.3494T>A (p.Ile1165Asn) c.780T>A | |
X | g.53380679T>A | CA413242156 | SMC1A | c.3559A>T (p.Ile1187Phe) c.2791A>T (p.Ile931Phe) c.3493A>T (p.Ile1165Phe) c.779A>T | |
X | g.53380679T>C | CA413242157 | SMC1A | c.3559A>G (p.Ile1187Val) c.2791A>G (p.Ile931Val) c.3493A>G (p.Ile1165Val) c.779A>G | ClinVar dbSNP |
X | g.53380679T>G | CA413242159 | SMC1A | c.3559A>C (p.Ile1187Leu) c.2791A>C (p.Ile931Leu) c.3493A>C (p.Ile1165Leu) c.779A>C | |
X | g.53380679_53380680del | CA2579615487 | SMC1A | c.3558_3559del (p.Ile1187LeufsTer19) c.2790_2791del (p.Ile931LeufsTer19) c.3492_3493del (p.Ile1165LeufsTer19) c.778_779del | |
X | g.53380680del | CA2579615488 | SMC1A | c.3558del (p.Ile1187SerfsTer25) c.2790del (p.Ile931SerfsTer25) c.3492del (p.Ile1165SerfsTer25) c.778del | |
X | g.53380680G>A | CA10420263 | SMC1A | c.3558C>T (p.Val1186=) c.2790C>T (p.Val930=) c.3492C>T (p.Val1164=) c.778C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53380680G>C | CA516553548 | SMC1A | c.3558C>G (p.Val1186=) c.2790C>G (p.Val930=) c.3492C>G (p.Val1164=) c.778C>G | |
X | g.53380680G= | CA2429816955 | SMC1A | c.3558C= (p.Val1186=) c.2790C= (p.Val930=) c.3492C= (p.Val1164=) c.778C= | |
X | g.53380680G>T | CA516553550 | SMC1A | c.3558C>A (p.Val1186=) c.2790C>A (p.Val930=) c.3492C>A (p.Val1164=) c.778C>A | |
X | g.53380681A= | CA2429816956 | SMC1A | c.3557T= (p.Val1186=) c.2789T= (p.Val930=) c.3491T= (p.Val1164=) c.777T= | |
X | g.53380681A>C | CA413242162 | SMC1A | c.3557T>G (p.Val1186Gly) c.2789T>G (p.Val930Gly) c.3491T>G (p.Val1164Gly) c.777T>G | |
X | g.53380681A>G | CA272578 | SMC1A | c.3557T>C (p.Val1186Ala) c.2789T>C (p.Val930Ala) c.3491T>C (p.Val1164Ala) c.777T>C | ClinVar dbSNP |
X | g.53380681A>T | CA413242163 | SMC1A | c.3557T>A (p.Val1186Asp) c.2789T>A (p.Val930Asp) c.3491T>A (p.Val1164Asp) c.777T>A | |
X | g.53380682C>A | CA413242166 | SMC1A | c.3556G>T (p.Val1186Phe) c.2788G>T (p.Val930Phe) c.3490G>T (p.Val1164Phe) c.776G>T | |
X | g.53380682C>G | CA413242172 | SMC1A | c.3556G>C (p.Val1186Leu) c.2788G>C (p.Val930Leu) c.3490G>C (p.Val1164Leu) c.776G>C | COSMIC |
X | g.53380682C>T | CA413242175 | SMC1A | c.3556G>A (p.Val1186Ile) c.2788G>A (p.Val930Ile) c.3490G>A (p.Val1164Ile) c.776G>A | COSMIC |
X | g.53380683G>A | CA516553559 | SMC1A | c.3555C>T (p.Ile1185=) c.2787C>T (p.Ile929=) c.3489C>T (p.Ile1163=) c.775C>T | ClinVar dbSNP |
X | g.53380683G>C | CA413242184 | SMC1A | c.3555C>G (p.Ile1185Met) c.2787C>G (p.Ile929Met) c.3489C>G (p.Ile1163Met) c.775C>G | |
X | g.53380683G>T | CA516553561 | SMC1A | c.3555C>A (p.Ile1185=) c.2787C>A (p.Ile929=) c.3489C>A (p.Ile1163=) c.775C>A | |
X | g.53380684A>C | CA413242186 | SMC1A | c.3554T>G (p.Ile1185Ser) c.2786T>G (p.Ile929Ser) c.3488T>G (p.Ile1163Ser) c.774T>G | |
X | g.53380684A>G | CA413242188 | SMC1A | c.3554T>C (p.Ile1185Thr) c.2786T>C (p.Ile929Thr) c.3488T>C (p.Ile1163Thr) c.774T>C | |
X | g.53380684A>T | CA413242189 | SMC1A | c.3554T>A (p.Ile1185Asn) c.2786T>A (p.Ile929Asn) c.3488T>A (p.Ile1163Asn) c.774T>A | |
X | g.53380685T>A | CA413242191 | SMC1A | c.3553A>T (p.Ile1185Phe) c.2785A>T (p.Ile929Phe) c.3487A>T (p.Ile1163Phe) c.773A>T | |
X | g.53380685T>C | CA329906061 | SMC1A | c.3553A>G (p.Ile1185Val) c.2785A>G (p.Ile929Val) c.3487A>G (p.Ile1163Val) c.773A>G | dbSNP gnomAD v4 |
X | g.53380685T>G | CA413242204 | SMC1A | c.3553A>C (p.Ile1185Leu) c.2785A>C (p.Ile929Leu) c.3487A>C (p.Ile1163Leu) c.773A>C | |
X | g.53380685T= | CA2429816957 | SMC1A | c.3553A= (p.Ile1185=) c.2785A= (p.Ile929=) c.3487A= (p.Ile1163=) c.773A= | |
X | g.53380686G>A | CA516553572 | SMC1A | c.3552C>T (p.Ala1184=) c.2784C>T (p.Ala928=) c.3486C>T (p.Ala1162=) c.772C>T | |
X | g.53380686G>C | CA516553573 | SMC1A | c.3552C>G (p.Ala1184=) c.2784C>G (p.Ala928=) c.3486C>G (p.Ala1162=) c.772C>G | |
X | g.53380686G>T | CA516553575 | SMC1A | c.3552C>A (p.Ala1184=) c.2784C>A (p.Ala928=) c.3486C>A (p.Ala1162=) c.772C>A | |
X | g.53380686_53380689dup | CA277857 | SMC1A | c.3549_3552dup (p.Ile1185GlyfsTer23) c.2781_2784dup (p.Ile929GlyfsTer23) c.3483_3486dup (p.Ile1163GlyfsTer23) c.769_772dup | ClinVar dbSNP |
X | g.53380687G>A | CA413242208 | SMC1A | c.3551C>T (p.Ala1184Val) c.2783C>T (p.Ala928Val) c.3485C>T (p.Ala1162Val) c.771C>T | |
X | g.53380687G>C | CA413242210 | SMC1A | c.3551C>G (p.Ala1184Gly) c.2783C>G (p.Ala928Gly) c.3485C>G (p.Ala1162Gly) c.771C>G | |
X | g.53380687G>T | CA413242214 | SMC1A | c.3551C>A (p.Ala1184Asp) c.2783C>A (p.Ala928Asp) c.3485C>A (p.Ala1162Asp) c.771C>A | |
X | g.53380688C>A | CA413242217 | SMC1A | c.3550G>T (p.Ala1184Ser) c.2782G>T (p.Ala928Ser) c.3484G>T (p.Ala1162Ser) c.770G>T | |
X | g.53380688C>G | CA413242218 | SMC1A | c.3550G>C (p.Ala1184Pro) c.2782G>C (p.Ala928Pro) c.3484G>C (p.Ala1162Pro) c.770G>C | |
X | g.53380688C>T | CA413242219 | SMC1A | c.3550G>A (p.Ala1184Thr) c.2782G>A (p.Ala928Thr) c.3484G>A (p.Ala1162Thr) c.770G>A | gnomAD v4 |
X | g.53380689C>A | CA413242221 | SMC1A | c.3549G>T (p.Gln1183His) c.2781G>T (p.Gln927His) c.3483G>T (p.Gln1161His) c.769G>T | |
X | g.53380689C>G | CA413242220 | SMC1A | c.3549G>C (p.Gln1183His) c.2781G>C (p.Gln927His) c.3483G>C (p.Gln1161His) c.769G>C | |
X | g.53380689C>T | CA516553590 | SMC1A | c.3549G>A (p.Gln1183=) c.2781G>A (p.Gln927=) c.3483G>A (p.Gln1161=) c.769G>A | ClinVar dbSNP |
X | g.53380690T>A | CA413242224 | SMC1A | c.3548A>T (p.Gln1183Leu) c.2780A>T (p.Gln927Leu) c.3482A>T (p.Gln1161Leu) c.768A>T | |
X | g.53380690T>C | CA413242229 | SMC1A | c.3548A>G (p.Gln1183Arg) c.2780A>G (p.Gln927Arg) c.3482A>G (p.Gln1161Arg) c.768A>G | |
X | g.53380690T>G | CA413242226 | SMC1A | c.3548A>C (p.Gln1183Pro) c.2780A>C (p.Gln927Pro) c.3482A>C (p.Gln1161Pro) c.768A>C | |
X | g.53380691G>A | CA413242230 | SMC1A | c.3547C>T (p.Gln1183Ter) c.2779C>T (p.Gln927Ter) c.3481C>T (p.Gln1161Ter) c.767C>T | |
X | g.53380691G>C | CA413242232 | SMC1A | c.3547C>G (p.Gln1183Glu) c.2779C>G (p.Gln927Glu) c.3481C>G (p.Gln1161Glu) c.767C>G | |
X | g.53380691G>T | CA413242234 | SMC1A | c.3547C>A (p.Gln1183Lys) c.2779C>A (p.Gln927Lys) c.3481C>A (p.Gln1161Lys) c.767C>A | |
X | g.53380692del | CA2579615489 | SMC1A | c.3547del (p.Gln1183ArgfsTer29) c.2779del (p.Gln927ArgfsTer29) c.3481del (p.Gln1161ArgfsTer29) c.767del | |
X | g.53380692G>A | CA516553601 | SMC1A | c.3546C>T (p.Phe1182=) c.2778C>T (p.Phe926=) c.3480C>T (p.Phe1160=) c.766C>T | |
X | g.53380692G>C | CA413242237 | SMC1A | c.3546C>G (p.Phe1182Leu) c.2778C>G (p.Phe926Leu) c.3480C>G (p.Phe1160Leu) c.766C>G | |
X | g.53380692G>T | CA413242239 | SMC1A | c.3546C>A (p.Phe1182Leu) c.2778C>A (p.Phe926Leu) c.3480C>A (p.Phe1160Leu) c.766C>A | |
X | g.53380693A>C | CA413242243 | SMC1A | c.3545T>G (p.Phe1182Cys) c.2777T>G (p.Phe926Cys) c.3479T>G (p.Phe1160Cys) c.765T>G | |
X | g.53380693A>G | CA413242245 | SMC1A | c.3545T>C (p.Phe1182Ser) c.2777T>C (p.Phe926Ser) c.3479T>C (p.Phe1160Ser) c.765T>C | |
X | g.53380693A>T | CA413242248 | SMC1A | c.3545T>A (p.Phe1182Tyr) c.2777T>A (p.Phe926Tyr) c.3479T>A (p.Phe1160Tyr) c.765T>A | |
X | g.53380694A>C | CA413242251 | SMC1A | c.3544T>G (p.Phe1182Val) c.2776T>G (p.Phe926Val) c.3478T>G (p.Phe1160Val) c.764T>G | |
X | g.53380694A>G | CA413242253 | SMC1A | c.3544T>C (p.Phe1182Leu) c.2776T>C (p.Phe926Leu) c.3478T>C (p.Phe1160Leu) c.764T>C | |
X | g.53380694A>T | CA413242256 | SMC1A | c.3544T>A (p.Phe1182Ile) c.2776T>A (p.Phe926Ile) c.3478T>A (p.Phe1160Ile) c.764T>A | |
X | g.53380695G>A | CA516553609 | SMC1A | c.3543C>T (p.Asn1181=) c.2775C>T (p.Asn925=) c.3477C>T (p.Asn1159=) c.763C>T | |
X | g.53380695G>C | CA413242259 | SMC1A | c.3543C>G (p.Asn1181Lys) c.2775C>G (p.Asn925Lys) c.3477C>G (p.Asn1159Lys) c.763C>G | |
X | g.53380695G>T | CA413242261 | SMC1A | c.3543C>A (p.Asn1181Lys) c.2775C>A (p.Asn925Lys) c.3477C>A (p.Asn1159Lys) c.763C>A | |
X | g.53380696T>A | CA413242270 | SMC1A | c.3542A>T (p.Asn1181Ile) c.2774A>T (p.Asn925Ile) c.3476A>T (p.Asn1159Ile) c.762A>T | |
X | g.53380696T>C | CA413242264 | SMC1A | c.3542A>G (p.Asn1181Ser) c.2774A>G (p.Asn925Ser) c.3476A>G (p.Asn1159Ser) c.762A>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.53380696T>G | CA413242267 | SMC1A | c.3542A>C (p.Asn1181Thr) c.2774A>C (p.Asn925Thr) c.3476A>C (p.Asn1159Thr) c.762A>C | gnomAD v4 |
X | g.53380696T= | CA2429816958 | SMC1A | c.3542A= (p.Asn1181=) c.2774A= (p.Asn925=) c.3476A= (p.Asn1159=) c.762A= | |
X | g.53380697T>A | CA413242273 | SMC1A | c.3541A>T (p.Asn1181Tyr) c.2773A>T (p.Asn925Tyr) c.3475A>T (p.Asn1159Tyr) c.761A>T | |
X | g.53380697T>C | CA413242275 | SMC1A | c.3541A>G (p.Asn1181Asp) c.2773A>G (p.Asn925Asp) c.3475A>G (p.Asn1159Asp) c.761A>G | |
X | g.53380697T>G | CA413242283 | SMC1A | c.3541A>C (p.Asn1181His) c.2773A>C (p.Asn925His) c.3475A>C (p.Asn1159His) c.761A>C | |
X | g.53380698G>A | CA516553619 | SMC1A | c.3540C>T (p.Cys1180=) c.2772C>T (p.Cys924=) c.3474C>T (p.Cys1158=) c.760C>T | |
X | g.53380698G>C | CA413242286 | SMC1A | c.3540C>G (p.Cys1180Trp) c.2772C>G (p.Cys924Trp) c.3474C>G (p.Cys1158Trp) c.760C>G | |
X | g.53380698G>T | CA413242289 | SMC1A | c.3540C>A (p.Cys1180Ter) c.2772C>A (p.Cys924Ter) c.3474C>A (p.Cys1158Ter) c.760C>A | |
X | g.53380699C>A | CA413242298 | SMC1A | c.3539G>T (p.Cys1180Phe) c.2771G>T (p.Cys924Phe) c.3473G>T (p.Cys1158Phe) c.759G>T | |
X | g.53380699C= | CA2429816959 | SMC1A | c.3539G= (p.Cys1180=) c.2771G= (p.Cys924=) c.3473G= (p.Cys1158=) c.759G= | |
X | g.53380699C>G | CA413242300 | SMC1A | c.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 |
X | g.53380699C>T | CA413242302 | SMC1A | c.3539G>A (p.Cys1180Tyr) c.2771G>A (p.Cys924Tyr) c.3473G>A (p.Cys1158Tyr) c.759G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.53380700A>C | CA413242305 | SMC1A | c.3538T>G (p.Cys1180Gly) c.2770T>G (p.Cys924Gly) c.3472T>G (p.Cys1158Gly) c.758T>G | |
X | g.53380700A>G | CA413242306 | SMC1A | c.3538T>C (p.Cys1180Arg) c.2770T>C (p.Cys924Arg) c.3472T>C (p.Cys1158Arg) c.758T>C | |
X | g.53380700A>T | CA413242313 | SMC1A | c.3538T>A (p.Cys1180Ser) c.2770T>A (p.Cys924Ser) c.3472T>A (p.Cys1158Ser) c.758T>A | |
X | g.53380701A>C | CA516553629 | SMC1A | c.3537T>G (p.Thr1179=) c.2769T>G (p.Thr923=) c.3471T>G (p.Thr1157=) c.757T>G | |
X | g.53380701A>G | CA516553631 | SMC1A | c.3537T>C (p.Thr1179=) c.2769T>C (p.Thr923=) c.3471T>C (p.Thr1157=) c.757T>C | |
X | g.53380701A>T | CA516553633 | SMC1A | c.3537T>A (p.Thr1179=) c.2769T>A (p.Thr923=) c.3471T>A (p.Thr1157=) c.757T>A | |
X | g.53380702G>A | CA413242323 | SMC1A | c.3536C>T (p.Thr1179Ile) c.2768C>T (p.Thr923Ile) c.3470C>T (p.Thr1157Ile) c.756C>T | gnomAD v4 |
X | g.53380702G>C | CA413242322 | SMC1A | c.3536C>G (p.Thr1179Ser) c.2768C>G (p.Thr923Ser) c.3470C>G (p.Thr1157Ser) c.756C>G | |
X | g.53380702G>T | CA413242319 | SMC1A | c.3536C>A (p.Thr1179Asn) c.2768C>A (p.Thr923Asn) c.3470C>A (p.Thr1157Asn) c.756C>A | |
X | g.53380703T>A | CA413242325 | SMC1A | c.3535A>T (p.Thr1179Ser) c.2767A>T (p.Thr923Ser) c.3469A>T (p.Thr1157Ser) c.755A>T | |
X | g.53380703T>C | CA413242327 | SMC1A | c.3535A>G (p.Thr1179Ala) c.2767A>G (p.Thr923Ala) c.3469A>G (p.Thr1157Ala) c.755A>G | |
X | g.53380703T>G | CA413242330 | SMC1A | c.3535A>C (p.Thr1179Pro) c.2767A>C (p.Thr923Pro) c.3469A>C (p.Thr1157Pro) c.755A>C | |
X | g.53380704C>A | CA516553641 | SMC1A | c.3534G>T (p.Ser1178=) c.2766G>T (p.Ser922=) c.3468G>T (p.Ser1156=) c.754G>T | dbSNP |
X | g.53380704C= | CA2429816960 | SMC1A | c.3534G= (p.Ser1178=) c.2766G= (p.Ser922=) c.3468G= (p.Ser1156=) c.754G= | |
X | g.53380704C>G | CA10420265 | SMC1A | c.3534G>C (p.Ser1178=) c.2766G>C (p.Ser922=) c.3468G>C (p.Ser1156=) c.754G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53380704C>T | CA10420264 | SMC1A | c.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 |
X | g.53380705G>A | CA413242339 | SMC1A | c.3533C>T (p.Ser1178Leu) c.2765C>T (p.Ser922Leu) c.3467C>T (p.Ser1156Leu) c.753C>T | ClinVar |
X | g.53380705G>C | CA413242342 | SMC1A | c.3533C>G (p.Ser1178Trp) c.2765C>G (p.Ser922Trp) c.3467C>G (p.Ser1156Trp) c.753C>G | |
X | g.53380705G>T | CA413242345 | SMC1A | c.3533C>A (p.Ser1178Ter) c.2765C>A (p.Ser922Ter) c.3467C>A (p.Ser1156Ter) c.753C>A | |
X | g.53380706A>C | CA413242348 | SMC1A | c.3532T>G (p.Ser1178Ala) c.2764T>G (p.Ser922Ala) c.3466T>G (p.Ser1156Ala) c.752T>G | |
X | g.53380706A>G | CA413242354 | SMC1A | c.3532T>C (p.Ser1178Pro) c.2764T>C (p.Ser922Pro) c.3466T>C (p.Ser1156Pro) c.752T>C | |
X | g.53380706A>T | CA413242356 | SMC1A | c.3532T>A (p.Ser1178Thr) c.2764T>A (p.Ser922Thr) c.3466T>A (p.Ser1156Thr) c.752T>A | |
X | g.53380707C>A | CA413242362 | SMC1A | c.3531G>T (p.Gln1177His) c.2763G>T (p.Gln921His) c.3465G>T (p.Gln1155His) c.751G>T | |
X | g.53380707C>G | CA413242364 | SMC1A | c.3531G>C (p.Gln1177His) c.2763G>C (p.Gln921His) c.3465G>C (p.Gln1155His) c.751G>C | |
X | g.53380707C>T | CA516553654 | SMC1A | c.3531G>A (p.Gln1177=) c.2763G>A (p.Gln921=) c.3465G>A (p.Gln1155=) c.751G>A | gnomAD v4 |
X | g.53380708T>A | CA413242371 | SMC1A | c.3530A>T (p.Gln1177Leu) c.2762A>T (p.Gln921Leu) c.3464A>T (p.Gln1155Leu) c.750A>T | |
X | g.53380708T>C | CA413242366 | SMC1A | c.3530A>G (p.Gln1177Arg) c.2762A>G (p.Gln921Arg) c.3464A>G (p.Gln1155Arg) c.750A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.53380708T>G | CA413242369 | SMC1A | c.3530A>C (p.Gln1177Pro) c.2762A>C (p.Gln921Pro) c.3464A>C (p.Gln1155Pro) c.750A>C | |
X | g.53380708T= | CA2429816961 | SMC1A | c.3530A= (p.Gln1177=) c.2762A= (p.Gln921=) c.3464A= (p.Gln1155=) c.750A= | |
X | g.53380709G>A | CA413242373 | SMC1A | c.3529C>T (p.Gln1177Ter) c.2761C>T (p.Gln921Ter) c.3463C>T (p.Gln1155Ter) c.749C>T | |
X | g.53380709G>C | CA413242375 | SMC1A | c.3529C>G (p.Gln1177Glu) c.2761C>G (p.Gln921Glu) c.3463C>G (p.Gln1155Glu) c.749C>G | |
X | g.53380709G>T | CA413242378 | SMC1A | c.3529C>A (p.Gln1177Lys) c.2761C>A (p.Gln921Lys) c.3463C>A (p.Gln1155Lys) c.749C>A | |
X | g.53380710C>A | CA413242380 | SMC1A | c.3528G>T (p.Glu1176Asp) c.2760G>T (p.Glu920Asp) c.3462G>T (p.Glu1154Asp) c.748G>T | |
X | g.53380710C>G | CA413242383 | SMC1A | c.3528G>C (p.Glu1176Asp) c.2760G>C (p.Glu920Asp) c.3462G>C (p.Glu1154Asp) c.748G>C | |
X | g.53380710C>T | CA516553661 | SMC1A | c.3528G>A (p.Glu1176=) c.2760G>A (p.Glu920=) c.3462G>A (p.Glu1154=) c.748G>A | ClinVar gnomAD v4 |
X | g.53380711T>A | CA413242390 | SMC1A | c.3527A>T (p.Glu1176Val) c.2759A>T (p.Glu920Val) c.3461A>T (p.Glu1154Val) c.747A>T | |
X | g.53380711T>C | CA413242391 | SMC1A | c.3527A>G (p.Glu1176Gly) c.2759A>G (p.Glu920Gly) c.3461A>G (p.Glu1154Gly) c.747A>G | |
X | g.53380711T>G | CA413242396 | SMC1A | c.3527A>C (p.Glu1176Ala) c.2759A>C (p.Glu920Ala) c.3461A>C (p.Glu1154Ala) c.747A>C | |
X | g.53380712C>A | CA413242399 | SMC1A | c.3526G>T (p.Glu1176Ter) c.2758G>T (p.Glu920Ter) c.3460G>T (p.Glu1154Ter) c.746G>T | |
X | g.53380712C>G | CA413242400 | SMC1A | c.3526G>C (p.Glu1176Gln) c.2758G>C (p.Glu920Gln) c.3460G>C (p.Glu1154Gln) c.746G>C | |
X | g.53380712C>T | CA413242403 | SMC1A | c.3526G>A (p.Glu1176Lys) c.2758G>A (p.Glu920Lys) c.3460G>A (p.Glu1154Lys) c.746G>A | |
X | g.53380713C>A | CA413242406 | SMC1A | c.3525G>T (p.Lys1175Asn) c.2757G>T (p.Lys919Asn) c.3459G>T (p.Lys1153Asn) c.745G>T | |
X | g.53380713C>G | CA413242408 | SMC1A | c.3525G>C (p.Lys1175Asn) c.2757G>C (p.Lys919Asn) c.3459G>C (p.Lys1153Asn) c.745G>C | |
X | g.53380713C>T | CA516553669 | SMC1A | c.3525G>A (p.Lys1175=) c.2757G>A (p.Lys919=) c.3459G>A (p.Lys1153=) c.745G>A | |
X | g.53380714T>A | CA413242417 | SMC1A | c.3524A>T (p.Lys1175Met) c.2756A>T (p.Lys919Met) c.3458A>T (p.Lys1153Met) c.744A>T | |
X | g.53380714T>C | CA413242412 | SMC1A | c.3524A>G (p.Lys1175Arg) c.2756A>G (p.Lys919Arg) c.3458A>G (p.Lys1153Arg) c.744A>G | |
X | g.53380714T>G | CA413242411 | SMC1A | c.3524A>C (p.Lys1175Thr) c.2756A>C (p.Lys919Thr) c.3458A>C (p.Lys1153Thr) c.744A>C | |
X | g.53380715T>A | CA413242426 | SMC1A | c.3523A>T (p.Lys1175Ter) c.2755A>T (p.Lys919Ter) c.3457A>T (p.Lys1153Ter) c.743A>T | |
X | g.53380715T>C | CA413242431 | SMC1A | c.3523A>G (p.Lys1175Glu) c.2755A>G (p.Lys919Glu) c.3457A>G (p.Lys1153Glu) c.743A>G | |
X | g.53380715T>G | CA413242428 | SMC1A | c.3523A>C (p.Lys1175Gln) c.2755A>C (p.Lys919Gln) c.3457A>C (p.Lys1153Gln) c.743A>C | |
X | g.53380716G>A | CA516553680 | SMC1A | c.3522C>T (p.Ile1174=) c.2754C>T (p.Ile918=) c.3456C>T (p.Ile1152=) c.742C>T | |
X | g.53380716G>C | CA413242433 | SMC1A | c.3522C>G (p.Ile1174Met) c.2754C>G (p.Ile918Met) c.3456C>G (p.Ile1152Met) c.742C>G | |
X | g.53380716G>T | CA516553683 | SMC1A | c.3522C>A (p.Ile1174=) c.2754C>A (p.Ile918=) c.3456C>A (p.Ile1152=) c.742C>A | |
X | g.53380717A>C | CA413242436 | SMC1A | c.3521T>G (p.Ile1174Ser) c.2753T>G (p.Ile918Ser) c.3455T>G (p.Ile1152Ser) c.741T>G | |
X | g.53380717A>G | CA413242438 | SMC1A | c.3521T>C (p.Ile1174Thr) c.2753T>C (p.Ile918Thr) c.3455T>C (p.Ile1152Thr) c.741T>C | |
X | g.53380717A>T | CA413242440 | SMC1A | c.3521T>A (p.Ile1174Asn) c.2753T>A (p.Ile918Asn) c.3455T>A (p.Ile1152Asn) c.741T>A | |
X | g.53380718T>A | CA413242443 | SMC1A | c.3520A>T (p.Ile1174Phe) c.2752A>T (p.Ile918Phe) c.3454A>T (p.Ile1152Phe) c.740A>T | |
X | g.53380718T>C | CA413242444 | SMC1A | c.3520A>G (p.Ile1174Val) c.2752A>G (p.Ile918Val) c.3454A>G (p.Ile1152Val) c.740A>G | |
X | g.53380718T>G | CA413242446 | SMC1A | c.3520A>C (p.Ile1174Leu) c.2752A>C (p.Ile918Leu) c.3454A>C (p.Ile1152Leu) c.740A>C | |
X | g.53380719G>A | CA516553692 | SMC1A | c.3519C>T (p.Tyr1173=) c.2751C>T (p.Tyr917=) c.3453C>T (p.Tyr1151=) c.739C>T | gnomAD v4 |
X | g.53380719G>C | CA413242448 | SMC1A | c.3519C>G (p.Tyr1173Ter) c.2751C>G (p.Tyr917Ter) c.3453C>G (p.Tyr1151Ter) c.739C>G | |
X | g.53380719G>T | CA413242450 | SMC1A | c.3519C>A (p.Tyr1173Ter) c.2751C>A (p.Tyr917Ter) c.3453C>A (p.Tyr1151Ter) c.739C>A | |
X | g.53380720T>A | CA413242452 | SMC1A | c.3518A>T (p.Tyr1173Phe) c.2750A>T (p.Tyr917Phe) c.3452A>T (p.Tyr1151Phe) c.738A>T | |
X | g.53380720T>C | CA413242454 | SMC1A | c.3518A>G (p.Tyr1173Cys) c.2750A>G (p.Tyr917Cys) c.3452A>G (p.Tyr1151Cys) c.738A>G | |
X | g.53380720T>G | CA413242456 | SMC1A | c.3518A>C (p.Tyr1173Ser) c.2750A>C (p.Tyr917Ser) c.3452A>C (p.Tyr1151Ser) c.738A>C | |
X | g.53380721A>C | CA413242458 | SMC1A | c.3517T>G (p.Tyr1173Asp) c.2749T>G (p.Tyr917Asp) c.3451T>G (p.Tyr1151Asp) c.737T>G | |
X | g.53380721A>G | CA413242460 | SMC1A | c.3517T>C (p.Tyr1173His) c.2749T>C (p.Tyr917His) c.3451T>C (p.Tyr1151His) c.737T>C | |
X | g.53380721A>T | CA413242463 | SMC1A | c.3517T>A (p.Tyr1173Asn) c.2749T>A (p.Tyr917Asn) c.3451T>A (p.Tyr1151Asn) c.737T>A | |
X | g.53380722A>C | CA413242466 | SMC1A | c.3516T>G (p.Asn1172Lys) c.2748T>G (p.Asn916Lys) c.3450T>G (p.Asn1150Lys) c.736T>G | |
X | g.53380722A>G | CA516553702 | SMC1A | c.3516T>C (p.Asn1172=) c.2748T>C (p.Asn916=) c.3450T>C (p.Asn1150=) c.736T>C | |
X | g.53380722A>T | CA413242468 | SMC1A | c.3516T>A (p.Asn1172Lys) c.2748T>A (p.Asn916Lys) c.3450T>A (p.Asn1150Lys) c.736T>A | |
X | g.53380723T>A | CA413242470 | SMC1A | c.3515A>T (p.Asn1172Ile) c.2747A>T (p.Asn916Ile) c.3449A>T (p.Asn1150Ile) c.735A>T | |
X | g.53380723T>C | CA413242472 | SMC1A | c.3515A>G (p.Asn1172Ser) c.2747A>G (p.Asn916Ser) c.3449A>G (p.Asn1150Ser) c.735A>G | |
X | g.53380723T>G | CA413242475 | SMC1A | c.3515A>C (p.Asn1172Thr) c.2747A>C (p.Asn916Thr) c.3449A>C (p.Asn1150Thr) c.735A>C | |
X | g.53380724T>A | CA413242479 | SMC1A | c.3514A>T (p.Asn1172Tyr) c.2746A>T (p.Asn916Tyr) c.3448A>T (p.Asn1150Tyr) c.734A>T | |
X | g.53380724T>C | CA413242480 | SMC1A | c.3514A>G (p.Asn1172Asp) c.2746A>G (p.Asn916Asp) c.3448A>G (p.Asn1150Asp) c.734A>G | |
X | g.53380724T>G | CA413242482 | SMC1A | c.3514A>C (p.Asn1172His) c.2746A>C (p.Asn916His) c.3448A>C (p.Asn1150His) c.734A>C | |
X | g.53380725T>A | CA516553712 | SMC1A | c.3513A>T (p.Ala1171=) c.2745A>T (p.Ala915=) c.3447A>T (p.Ala1149=) c.733A>T | |
X | g.53380725T>C | CA516553714 | SMC1A | c.3513A>G (p.Ala1171=) c.2745A>G (p.Ala915=) c.3447A>G (p.Ala1149=) c.733A>G | |
X | g.53380725T>G | CA516553716 | SMC1A | c.3513A>C (p.Ala1171=) c.2745A>C (p.Ala915=) c.3447A>C (p.Ala1149=) c.733A>C | |
X | g.53380726G>A | CA413242485 | SMC1A | c.3512C>T (p.Ala1171Val) c.2744C>T (p.Ala915Val) c.3446C>T (p.Ala1149Val) c.732C>T | gnomAD v4 |
X | g.53380726G>C | CA413242486 | SMC1A | c.3512C>G (p.Ala1171Gly) c.2744C>G (p.Ala915Gly) c.3446C>G (p.Ala1149Gly) c.732C>G | |
X | g.53380726G>T | CA413242488 | SMC1A | c.3512C>A (p.Ala1171Glu) c.2744C>A (p.Ala915Glu) c.3446C>A (p.Ala1149Glu) c.732C>A | gnomAD v4 |
X | g.53380727C>A | CA413242490 | SMC1A | c.3511G>T (p.Ala1171Ser) c.2743G>T (p.Ala915Ser) c.3445G>T (p.Ala1149Ser) c.731G>T | |
X | g.53380727C>G | CA413242492 | SMC1A | c.3511G>C (p.Ala1171Pro) c.2743G>C (p.Ala915Pro) c.3445G>C (p.Ala1149Pro) c.731G>C | |
X | g.53380727C>T | CA413242494 | SMC1A | c.3511G>A (p.Ala1171Thr) c.2743G>A (p.Ala915Thr) c.3445G>A (p.Ala1149Thr) c.731G>A | gnomAD v4 |
X | g.53380728del | CA2579615490 | SMC1A | c.3511del (p.Ala1171GlnfsTer?) c.2743del (p.Ala915GlnfsTer?) c.3445del (p.Ala1149GlnfsTer?) c.731del | |
X | g.53380728C>A | CA516553724 | SMC1A | c.3510G>T (p.Val1170=) c.2742G>T (p.Val914=) c.3444G>T (p.Val1148=) c.730G>T | |
X | g.53380728C>G | CA516553725 | SMC1A | c.3510G>C (p.Val1170=) c.2742G>C (p.Val914=) c.3444G>C (p.Val1148=) c.730G>C | |
X | g.53380728C>T | CA516553727 | SMC1A | c.3510G>A (p.Val1170=) c.2742G>A (p.Val914=) c.3444G>A (p.Val1148=) c.730G>A | |
X | g.53380729A>C | CA413242501 | SMC1A | c.3509T>G (p.Val1170Gly) c.2741T>G (p.Val914Gly) c.3443T>G (p.Val1148Gly) c.729T>G | |
X | g.53380729A>G | CA413242497 | SMC1A | c.3509T>C (p.Val1170Ala) c.2741T>C (p.Val914Ala) c.3443T>C (p.Val1148Ala) c.729T>C | |
X | g.53380729A>T | CA413242498 | SMC1A | c.3509T>A (p.Val1170Glu) c.2741T>A (p.Val914Glu) c.3443T>A (p.Val1148Glu) c.729T>A | |
X | g.53380730C>A | CA413242503 | SMC1A | c.3508G>T (p.Val1170Leu) c.2740G>T (p.Val914Leu) c.3442G>T (p.Val1148Leu) c.728G>T | |
X | g.53380730C>G | CA413242505 | SMC1A | c.3508G>C (p.Val1170Leu) c.2740G>C (p.Val914Leu) c.3442G>C (p.Val1148Leu) c.728G>C | |
X | g.53380730C>T | CA413242507 | SMC1A | c.3508G>A (p.Val1170Met) c.2740G>A (p.Val914Met) c.3442G>A (p.Val1148Met) c.728G>A | |
X | g.53380731C>A | CA413242509 | SMC1A | c.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 | |
X | g.53380731C>G | CA413242512 | SMC1A | c.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 | |
X | g.53380731C>T | CA413242514 | SMC1A | c.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 | |
X | g.53380732T>A | CA413242516 | SMC1A | c.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 | |
X | g.53380732T>C | CA413242518 | SMC1A | c.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 |
X | g.53380732T>G | CA413242520 | SMC1A | c.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 | |
X | g.53380734T>C | CA2693803106 | SMC1A | c.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 |
X | g.53380735G>A | CA641885884 | SMC1A | c.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 |
X | g.53380735G= | CA2429816962 | SMC1A | c.3508-5C= (n.3508-5C=) c.2740-5C= (n.2740-5C=) c.3442-5C= (n.3442-5C=) c.728-5C= | |
X | g.53380735G>T | CA329906062 | SMC1A | c.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 |
X | g.53380737del | CA2693803107 | SMC1A | c.3508-5del (n.3508-5del) c.2740-5del (n.2740-5del) c.3442-5del (n.3442-5del) c.728-5del | gnomAD v4 |
X | g.53380736G>A | CA2580101186 | SMC1A | c.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 |
X | g.53380737G>A | CA641885888 | SMC1A | c.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 |
X | g.53380737G= | CA2429816963 | SMC1A | c.3508-7C= (n.3508-7C=) c.2740-7C= (n.2740-7C=) c.3442-7C= (n.3442-7C=) c.728-7C= | |
X | g.53380737G>T | CA2693803108 | SMC1A | c.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 |
X | g.53380740del | CA2579615491 | SMC1A | c.3508-8del (n.3508-8del) c.2740-8del (n.2740-8del) c.3442-8del (n.3442-8del) c.728-8del | gnomAD v4 |
X | g.53380739A>G | CA2693803109 | SMC1A | c.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 |
X | g.53380740A= | CA2429816964 | SMC1A | c.3508-10T= (n.3508-10T=) c.2740-10T= (n.2740-10T=) c.3442-10T= (n.3442-10T=) c.728-10T= | |
X | g.53380740A>G | CA641885889 | SMC1A | c.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 |
X | g.53380741G>C | CA2693803110 | SMC1A | c.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 |
X | g.53380741G>T | CA2693803111 | SMC1A | c.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 |
X | g.53380742G>T | CA2693803112 | SMC1A | c.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 |
X | g.53380743C>A | CA2580101187 | SMC1A | c.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 |
X | g.53380743C>T | CA2579615492 | SMC1A | c.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 |
X | g.53380744del | CA2693803113 | SMC1A | c.3508-13del (n.3508-13del) c.2740-13del (n.2740-13del) c.3442-13del (n.3442-13del) c.728-13del | gnomAD v4 |
X | g.53380744C= | CA2429816965 | SMC1A | c.3508-14G= (n.3508-14G=) c.2740-14G= (n.2740-14G=) c.3442-14G= (n.3442-14G=) c.728-14G= | |
X | g.53380744C>T | CA10420266 | SMC1A | c.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 |
X | g.53380745G>A | CA10420267 | SMC1A | c.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 |
X | g.53380745G= | CA2429816966 | SMC1A | c.3508-15C= (n.3508-15C=) c.2740-15C= (n.2740-15C=) c.3442-15C= (n.3442-15C=) c.728-15C= | |
X | g.53380745G>T | CA658090785 | SMC1A | c.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 |
X | g.53380746C>T | CA2693803114 | SMC1A | c.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 |
X | g.53380747C= | CA2429816967 | SMC1A | c.3508-17G= (n.3508-17G=) c.2740-17G= (n.2740-17G=) c.3442-17G= (n.3442-17G=) c.728-17G= | |
X | g.53380747C>G | CA1133167394 | SMC1A | c.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 |
X | g.53380747C>T | CA2693803115 | SMC1A | c.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 |
X | g.53380748A= | CA2429816968 | SMC1A | c.3508-18T= (n.3508-18T=) c.2740-18T= (n.2740-18T=) c.3442-18T= (n.3442-18T=) c.728-18T= | |
X | g.53380748A>G | CA641885901 | SMC1A | c.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 |
X | g.53380749G>T | CA2693803116 | SMC1A | c.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 |
X | g.53380750G>A | CA10420268 | SMC1A | c.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 |
X | g.53380750G= | CA2429816969 | SMC1A | c.3508-20C= (n.3508-20C=) c.2740-20C= (n.2740-20C=) c.3442-20C= (n.3442-20C=) c.728-20C= | |
X | g.53380750G>T | CA2693803117 | SMC1A | c.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 |
X | g.53380752A>G | CA2693803118 | SMC1A | c.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 |
X | g.53380753del | CA2693803119 | SMC1A | c.3508-23del (n.3508-23del) c.2740-23del (n.2740-23del) c.3442-23del (n.3442-23del) c.728-23del | gnomAD v4 |
X | g.53380753C>A | CA10420269 | SMC1A | c.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 |
X | g.53380753C= | CA2429816970 | SMC1A | c.3508-23G= (n.3508-23G=) c.2740-23G= (n.2740-23G=) c.3442-23G= (n.3442-23G=) c.728-23G= | |
X | g.53380753C>T | CA2429816971 | SMC1A | c.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 |
X | g.53380755del | CA2579615493 | SMC1A | c.3508-24del (n.3508-24del) c.2740-24del (n.2740-24del) c.3442-24del (n.3442-24del) c.728-24del | |
X | g.53380755T>A | CA2693803120 | SMC1A | c.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 |
X | g.53380755T>C | CA10420270 | SMC1A | c.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 |
X | g.53380755T= | CA2429816972 | SMC1A | c.3508-25A= (n.3508-25A=) c.2740-25A= (n.2740-25A=) c.3442-25A= (n.3442-25A=) c.728-25A= | |
X | g.53380756dup | CA876270039 | SMC1A | c.3508-26dup (n.3508-26dup) c.2740-26dup (n.2740-26dup) c.3442-26dup (n.3442-26dup) c.728-26dup | dbSNP |
X | g.53380757G>T | CA2579615494 | SMC1A | c.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 |
X | g.53380758C>A | CA2693803121 | SMC1A | c.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 |
X | g.53380758C>G | CA2693803122 | SMC1A | c.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 |
X | g.53380759A= | CA2429816973 | SMC1A | c.3508-29T= (n.3508-29T=) c.2740-29T= (n.2740-29T=) c.3442-29T= (n.3442-29T=) c.728-29T= | |
X | g.53380759A>G | CA329906063 | SMC1A | c.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 |
X | g.53380760_53380761delinsAG | CA2429816974 | SMC1A | c.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 | |
X | g.53380762del | CA2429816975 | SMC1A | c.3508-31del (n.3508-31del) c.2740-31del (n.2740-31del) c.3442-31del (n.3442-31del) c.728-31del | dbSNP |
X | g.53380762G>A | CA329906064 | SMC1A | c.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 |
X | g.53380762G= | CA2429816976 | SMC1A | c.3508-32C= (n.3508-32C=) c.2740-32C= (n.2740-32C=) c.3442-32C= (n.3442-32C=) c.728-32C= | |
X | g.53380762G>T | CA2693803123 | SMC1A | c.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 |
X | g.53380764T>A | CA2693803124 | SMC1A | c.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 |
X | g.53380765C>A | CA2693803125 | SMC1A | c.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 |
X | g.53380765C= | CA2429816977 | SMC1A | c.3508-35G= (n.3508-35G=) c.2740-35G= (n.2740-35G=) c.3442-35G= (n.3442-35G=) c.728-35G= | |
X | g.53380765C>G | CA641885913 | SMC1A | c.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 |
X | g.53380765C>T | CA10420271 | SMC1A | c.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 |
X | g.53380766A>G | CA2579615495 | SMC1A | c.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 | |
X | g.53380769C>T | CA2579615496 | SMC1A | c.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 |
X | g.53380770C= | CA2429816978 | SMC1A | c.3508-40G= (n.3508-40G=) c.2740-40G= (n.2740-40G=) c.3442-40G= (n.3442-40G=) c.728-40G= | |
X | g.53380770C>T | CA10420272 | SMC1A | c.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 |
X | g.53380772T>A | CA2693803126 | SMC1A | c.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 |
X | g.53380773_53380775delinsAAC | CA2429816979 | SMC1A | c.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 | |
X | g.53380775_53380776del | CA2429816980 | SMC1A | c.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 |
X | g.53380776A>G | CA2579615497 | SMC1A | c.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 |