Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53380616C= | CA2429816941 | SMC1A | c.3618+4G= (n.3618+4G=) c.2850+4G= (n.2850+4G=) c.3552+4G= (n.3552+4G=) | |
X | g.53380616C>T | CA10420256 | SMC1A | c.3618+4G>A (n.3618+4G>A) c.2850+4G>A (n.2850+4G>A) c.3552+4G>A (n.3552+4G>A) | dbSNP ExAC |
X | g.53380618A>C | CA413241737 | SMC1A | c.3618+2T>G (n.3618+2T>G) c.2850+2T>G (n.2850+2T>G) c.3552+2T>G (n.3552+2T>G) | |
X | g.53380618A>G | CA413241736 | SMC1A | c.3618+2T>C (n.3618+2T>C) c.2850+2T>C (n.2850+2T>C) c.3552+2T>C (n.3552+2T>C) | |
X | g.53380618A>T | CA413241735 | SMC1A | c.3618+2T>A (n.3618+2T>A) c.2850+2T>A (n.2850+2T>A) c.3552+2T>A (n.3552+2T>A) | |
X | g.53380619C>A | CA413241738 | SMC1A | c.3618+1G>T (n.3618+1G>T) c.2850+1G>T (n.2850+1G>T) c.3552+1G>T (n.3552+1G>T) | |
X | g.53380619C>G | CA413241740 | SMC1A | c.3618+1G>C (n.3618+1G>C) c.2850+1G>C (n.2850+1G>C) c.3552+1G>C (n.3552+1G>C) | |
X | g.53380619C>T | CA413241742 | SMC1A | c.3618+1G>A (n.3618+1G>A) c.2850+1G>A (n.2850+1G>A) c.3552+1G>A (n.3552+1G>A) | |
X | g.53380620C>A | CA413241744 | SMC1A | c.3618G>T (p.Glu1206Asp) c.2850G>T (p.Glu950Asp) c.3552G>T (p.Glu1184Asp) c.838G>T | |
X | g.53380620C>G | CA413241746 | SMC1A | c.3618G>C (p.Glu1206Asp) c.2850G>C (p.Glu950Asp) c.3552G>C (p.Glu1184Asp) c.838G>C | |
X | g.53380620C>T | CA516553324 | SMC1A | c.3618G>A (p.Glu1206=) c.2850G>A (p.Glu950=) c.3552G>A (p.Glu1184=) c.838G>A | |
X | g.53380621T>A | CA413241748 | SMC1A | c.3617A>T (p.Glu1206Val) c.2849A>T (p.Glu950Val) c.3551A>T (p.Glu1184Val) c.837A>T | |
X | g.53380621T>C | CA413241749 | SMC1A | c.3617A>G (p.Glu1206Gly) c.2849A>G (p.Glu950Gly) c.3551A>G (p.Glu1184Gly) c.837A>G | |
X | g.53380621T>G | CA413241750 | SMC1A | c.3617A>C (p.Glu1206Ala) c.2849A>C (p.Glu950Ala) c.3551A>C (p.Glu1184Ala) c.837A>C | |
X | g.53380622C>A | CA413241752 | SMC1A | c.3616G>T (p.Glu1206Ter) c.2848G>T (p.Glu950Ter) c.3550G>T (p.Glu1184Ter) c.836G>T | |
X | g.53380622C>G | CA413241753 | SMC1A | c.3616G>C (p.Glu1206Gln) c.2848G>C (p.Glu950Gln) c.3550G>C (p.Glu1184Gln) c.836G>C | |
X | g.53380622C>T | CA413241755 | SMC1A | c.3616G>A (p.Glu1206Lys) c.2848G>A (p.Glu950Lys) c.3550G>A (p.Glu1184Lys) c.836G>A | gnomAD v4 |
X | g.53380623A= | CA2429816942 | SMC1A | c.3615T= (p.Pro1205=) c.2847T= (p.Pro949=) c.3549T= (p.Pro1183=) c.835T= | |
X | g.53380623A>C | CA516553337 | SMC1A | c.3615T>G (p.Pro1205=) c.2847T>G (p.Pro949=) c.3549T>G (p.Pro1183=) c.835T>G | |
X | g.53380623A>G | CA516553339 | SMC1A | c.3615T>C (p.Pro1205=) c.2847T>C (p.Pro949=) c.3549T>C (p.Pro1183=) c.835T>C | gnomAD v4 |
X | g.53380623A>T | CA516553341 | SMC1A | c.3615T>A (p.Pro1205=) c.2847T>A (p.Pro949=) c.3549T>A (p.Pro1183=) c.835T>A | ClinVar dbSNP |
X | g.53380624G>A | CA413241756 | SMC1A | c.3614C>T (p.Pro1205Leu) c.2846C>T (p.Pro949Leu) c.3548C>T (p.Pro1183Leu) c.834C>T | |
X | g.53380624G>C | CA413241757 | SMC1A | c.3614C>G (p.Pro1205Arg) c.2846C>G (p.Pro949Arg) c.3548C>G (p.Pro1183Arg) c.834C>G | |
X | g.53380624G>T | CA413241760 | SMC1A | c.3614C>A (p.Pro1205His) c.2846C>A (p.Pro949His) c.3548C>A (p.Pro1183His) c.834C>A | gnomAD v4 |
X | g.53380625G>A | CA413241763 | SMC1A | c.3613C>T (p.Pro1205Ser) c.2845C>T (p.Pro949Ser) c.3547C>T (p.Pro1183Ser) c.833C>T | |
X | g.53380625G>C | CA413241765 | SMC1A | c.3613C>G (p.Pro1205Ala) c.2845C>G (p.Pro949Ala) c.3547C>G (p.Pro1183Ala) c.833C>G | |
X | g.53380625G>T | CA413241761 | SMC1A | c.3613C>A (p.Pro1205Thr) c.2845C>A (p.Pro949Thr) c.3547C>A (p.Pro1183Thr) c.833C>A | |
X | g.53380626A= | CA2429816943 | SMC1A | c.3612T= (p.Tyr1204=) c.2844T= (p.Tyr948=) c.3546T= (p.Tyr1182=) c.832T= | |
X | g.53380626A>C | CA413241767 | SMC1A | c.3612T>G (p.Tyr1204Ter) c.2844T>G (p.Tyr948Ter) c.3546T>G (p.Tyr1182Ter) c.832T>G | |
X | g.53380626A>G | CA516553350 | SMC1A | c.3612T>C (p.Tyr1204=) c.2844T>C (p.Tyr948=) c.3546T>C (p.Tyr1182=) c.832T>C | dbSNP gnomAD v4 |
X | g.53380626A>T | CA413241769 | SMC1A | c.3612T>A (p.Tyr1204Ter) c.2844T>A (p.Tyr948Ter) c.3546T>A (p.Tyr1182Ter) c.832T>A | |
X | g.53380627T>A | CA10420257 | SMC1A | c.3611A>T (p.Tyr1204Phe) c.2843A>T (p.Tyr948Phe) c.3545A>T (p.Tyr1182Phe) c.831A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53380627T>C | CA413241773 | SMC1A | c.3611A>G (p.Tyr1204Cys) c.2843A>G (p.Tyr948Cys) c.3545A>G (p.Tyr1182Cys) c.831A>G | |
X | g.53380627T>G | CA413241784 | SMC1A | c.3611A>C (p.Tyr1204Ser) c.2843A>C (p.Tyr948Ser) c.3545A>C (p.Tyr1182Ser) c.831A>C | |
X | g.53380627T= | CA2429816944 | SMC1A | c.3611A= (p.Tyr1204=) c.2843A= (p.Tyr948=) c.3545A= (p.Tyr1182=) c.831A= | |
X | g.53380628A>C | CA413241797 | SMC1A | c.3610T>G (p.Tyr1204Asp) c.2842T>G (p.Tyr948Asp) c.3544T>G (p.Tyr1182Asp) c.830T>G | |
X | g.53380628A>G | CA413241793 | SMC1A | c.3610T>C (p.Tyr1204His) c.2842T>C (p.Tyr948His) c.3544T>C (p.Tyr1182His) c.830T>C | |
X | g.53380628A>T | CA413241791 | SMC1A | c.3610T>A (p.Tyr1204Asn) c.2842T>A (p.Tyr948Asn) c.3544T>A (p.Tyr1182Asn) c.830T>A | |
X | g.53380629G>A | CA516553356 | SMC1A | c.3609C>T (p.Val1203=) c.2841C>T (p.Val947=) c.3543C>T (p.Val1181=) c.829C>T | |
X | g.53380629G>C | CA516553357 | SMC1A | c.3609C>G (p.Val1203=) c.2841C>G (p.Val947=) c.3543C>G (p.Val1181=) c.829C>G | COSMIC |
X | g.53380629G>T | CA516553358 | SMC1A | c.3609C>A (p.Val1203=) c.2841C>A (p.Val947=) c.3543C>A (p.Val1181=) c.829C>A | gnomAD v4 |
X | g.53380630A>C | CA413241799 | SMC1A | c.3608T>G (p.Val1203Gly) c.2840T>G (p.Val947Gly) c.3542T>G (p.Val1181Gly) c.828T>G | |
X | g.53380630A>G | CA413241800 | SMC1A | c.3608T>C (p.Val1203Ala) c.2840T>C (p.Val947Ala) c.3542T>C (p.Val1181Ala) c.828T>C | |
X | g.53380630A>T | CA413241801 | SMC1A | c.3608T>A (p.Val1203Asp) c.2840T>A (p.Val947Asp) c.3542T>A (p.Val1181Asp) c.828T>A | gnomAD v4 |
X | g.53380631C>A | CA413241803 | SMC1A | c.3607G>T (p.Val1203Phe) c.2839G>T (p.Val947Phe) c.3541G>T (p.Val1181Phe) c.827G>T | |
X | g.53380631C>G | CA413241805 | SMC1A | c.3607G>C (p.Val1203Leu) c.2839G>C (p.Val947Leu) c.3541G>C (p.Val1181Leu) c.827G>C | |
X | g.53380631C>T | CA413241808 | SMC1A | c.3607G>A (p.Val1203Ile) c.2839G>A (p.Val947Ile) c.3541G>A (p.Val1181Ile) c.827G>A | dbSNP |
X | g.53380632T>A | CA516553369 | SMC1A | c.3606A>T (p.Gly1202=) c.2838A>T (p.Gly946=) c.3540A>T (p.Gly1180=) c.826A>T | |
X | g.53380632T>C | CA516553371 | SMC1A | c.3606A>G (p.Gly1202=) c.2838A>G (p.Gly946=) c.3540A>G (p.Gly1180=) c.826A>G | |
X | g.53380632T>G | CA516553373 | SMC1A | c.3606A>C (p.Gly1202=) c.2838A>C (p.Gly946=) c.3540A>C (p.Gly1180=) c.826A>C | |
X | g.53380633C>A | CA413241811 | SMC1A | c.3605G>T (p.Gly1202Val) c.2837G>T (p.Gly946Val) c.3539G>T (p.Gly1180Val) c.825G>T | |
X | g.53380633C>G | CA413241819 | SMC1A | c.3605G>C (p.Gly1202Ala) c.2837G>C (p.Gly946Ala) c.3539G>C (p.Gly1180Ala) c.825G>C | |
X | g.53380633C>T | CA413241816 | SMC1A | c.3605G>A (p.Gly1202Glu) c.2837G>A (p.Gly946Glu) c.3539G>A (p.Gly1180Glu) c.825G>A | |
X | g.53380634C>A | CA413241820 | SMC1A | c.3604G>T (p.Gly1202Ter) c.2836G>T (p.Gly946Ter) c.3538G>T (p.Gly1180Ter) c.824G>T | |
X | g.53380634C>G | CA413241821 | SMC1A | c.3604G>C (p.Gly1202Arg) c.2836G>C (p.Gly946Arg) c.3538G>C (p.Gly1180Arg) c.824G>C | |
X | g.53380634C>T | CA413241824 | SMC1A | c.3604G>A (p.Gly1202Arg) c.2836G>A (p.Gly946Arg) c.3538G>A (p.Gly1180Arg) c.824G>A | |
X | g.53380635A>C | CA413241825 | SMC1A | c.3603T>G (p.Ile1201Met) c.2835T>G (p.Ile945Met) c.3537T>G (p.Ile1179Met) c.823T>G | |
X | g.53380635A>G | CA516553383 | SMC1A | c.3603T>C (p.Ile1201=) c.2835T>C (p.Ile945=) c.3537T>C (p.Ile1179=) c.823T>C | gnomAD v4 |
X | g.53380635A>T | CA516553385 | SMC1A | c.3603T>A (p.Ile1201=) c.2835T>A (p.Ile945=) c.3537T>A (p.Ile1179=) c.823T>A | |
X | g.53380636A>C | CA413241829 | SMC1A | c.3602T>G (p.Ile1201Ser) c.2834T>G (p.Ile945Ser) c.3536T>G (p.Ile1179Ser) c.822T>G | |
X | g.53380636A>G | CA413241833 | SMC1A | c.3602T>C (p.Ile1201Thr) c.2834T>C (p.Ile945Thr) c.3536T>C (p.Ile1179Thr) c.822T>C | gnomAD v4 |
X | g.53380636A>T | CA413241835 | SMC1A | c.3602T>A (p.Ile1201Asn) c.2834T>A (p.Ile945Asn) c.3536T>A (p.Ile1179Asn) c.822T>A | |
X | g.53380637T>A | CA413241837 | SMC1A | c.3601A>T (p.Ile1201Phe) c.2833A>T (p.Ile945Phe) c.3535A>T (p.Ile1179Phe) c.821A>T | |
X | g.53380637T>C | CA413241840 | SMC1A | c.3601A>G (p.Ile1201Val) c.2833A>G (p.Ile945Val) c.3535A>G (p.Ile1179Val) c.821A>G | gnomAD v4 |
X | g.53380637T>G | CA413241843 | SMC1A | c.3601A>C (p.Ile1201Leu) c.2833A>C (p.Ile945Leu) c.3535A>C (p.Ile1179Leu) c.821A>C | gnomAD v4 |
X | g.53380638G>A | CA516553394 | SMC1A | c.3600C>T (p.Leu1200=) c.2832C>T (p.Leu944=) c.3534C>T (p.Leu1178=) c.820C>T | gnomAD v4 |
X | g.53380638G>C | CA516553396 | SMC1A | c.3600C>G (p.Leu1200=) c.2832C>G (p.Leu944=) c.3534C>G (p.Leu1178=) c.820C>G | |
X | g.53380638G>T | CA516553393 | SMC1A | c.3600C>A (p.Leu1200=) c.2832C>A (p.Leu944=) c.3534C>A (p.Leu1178=) c.820C>A | gnomAD v4 |
X | g.53380639_53380640del | CA2579615464 | SMC1A | c.3599_3600del (p.Leu1200HisfsTer6) c.2831_2832del (p.Leu944HisfsTer6) c.3533_3534del (p.Leu1178HisfsTer6) c.819_820del | |
X | g.53380639A>C | CA413241844 | SMC1A | c.3599T>G (p.Leu1200Arg) c.2831T>G (p.Leu944Arg) c.3533T>G (p.Leu1178Arg) c.819T>G | |
X | g.53380639A>G | CA413241848 | SMC1A | c.3599T>C (p.Leu1200Pro) c.2831T>C (p.Leu944Pro) c.3533T>C (p.Leu1178Pro) c.819T>C | gnomAD v4 |
X | g.53380639A>T | CA413241846 | SMC1A | c.3599T>A (p.Leu1200His) c.2831T>A (p.Leu944His) c.3533T>A (p.Leu1178His) c.819T>A | |
X | g.53380640G>A | CA413241850 | SMC1A | c.3598C>T (p.Leu1200Phe) c.2830C>T (p.Leu944Phe) c.3532C>T (p.Leu1178Phe) c.818C>T | |
X | g.53380640G>C | CA413241855 | SMC1A | c.3598C>G (p.Leu1200Val) c.2830C>G (p.Leu944Val) c.3532C>G (p.Leu1178Val) c.818C>G | |
X | g.53380640G>T | CA413241853 | SMC1A | c.3598C>A (p.Leu1200Ile) c.2830C>A (p.Leu944Ile) c.3532C>A (p.Leu1178Ile) c.818C>A | gnomAD v4 COSMIC |
X | g.53380641G>A | CA516553406 | SMC1A | c.3597C>T (p.Ser1199=) c.2829C>T (p.Ser943=) c.3531C>T (p.Ser1177=) c.817C>T | dbSNP |
X | g.53380641G>C | CA413241857 | SMC1A | c.3597C>G (p.Ser1199Arg) c.2829C>G (p.Ser943Arg) c.3531C>G (p.Ser1177Arg) c.817C>G | |
X | g.53380641G= | CA2429816945 | SMC1A | c.3597C= (p.Ser1199=) c.2829C= (p.Ser943=) c.3531C= (p.Ser1177=) c.817C= | |
X | g.53380641G>T | CA413241858 | SMC1A | c.3597C>A (p.Ser1199Arg) c.2829C>A (p.Ser943Arg) c.3531C>A (p.Ser1177Arg) c.817C>A | gnomAD v4 |
X | g.53380642C>A | CA413241863 | SMC1A | c.3596G>T (p.Ser1199Ile) c.2828G>T (p.Ser943Ile) c.3530G>T (p.Ser1177Ile) c.816G>T | |
X | g.53380642C>G | CA413241865 | SMC1A | c.3596G>C (p.Ser1199Thr) c.2828G>C (p.Ser943Thr) c.3530G>C (p.Ser1177Thr) c.816G>C | |
X | g.53380642C>T | CA413241866 | SMC1A | c.3596G>A (p.Ser1199Asn) c.2828G>A (p.Ser943Asn) c.3530G>A (p.Ser1177Asn) c.816G>A | |
X | g.53380643T>A | CA413241867 | SMC1A | c.3595A>T (p.Ser1199Cys) c.2827A>T (p.Ser943Cys) c.3529A>T (p.Ser1177Cys) c.815A>T | |
X | g.53380643T>C | CA413241868 | SMC1A | c.3595A>G (p.Ser1199Gly) c.2827A>G (p.Ser943Gly) c.3529A>G (p.Ser1177Gly) c.815A>G | |
X | g.53380643T>G | CA413241869 | SMC1A | c.3595A>C (p.Ser1199Arg) c.2827A>C (p.Ser943Arg) c.3529A>C (p.Ser1177Arg) c.815A>C | |
X | g.53380644C>A | CA413241871 | SMC1A | c.3594G>T (p.Glu1198Asp) c.2826G>T (p.Glu942Asp) c.3528G>T (p.Glu1176Asp) c.814G>T | |
X | g.53380644C>G | CA413241872 | SMC1A | c.3594G>C (p.Glu1198Asp) c.2826G>C (p.Glu942Asp) c.3528G>C (p.Glu1176Asp) c.814G>C | |
X | g.53380644C>T | CA516553413 | SMC1A | c.3594G>A (p.Glu1198=) c.2826G>A (p.Glu942=) c.3528G>A (p.Glu1176=) c.814G>A | gnomAD v4 |
X | g.53380645T>A | CA413241880 | SMC1A | c.3593A>T (p.Glu1198Val) c.2825A>T (p.Glu942Val) c.3527A>T (p.Glu1176Val) c.813A>T | |
X | g.53380645T>C | CA413241882 | SMC1A | c.3593A>G (p.Glu1198Gly) c.2825A>G (p.Glu942Gly) c.3527A>G (p.Glu1176Gly) c.813A>G | gnomAD v4 |
X | g.53380645T>G | CA413241891 | SMC1A | c.3593A>C (p.Glu1198Ala) c.2825A>C (p.Glu942Ala) c.3527A>C (p.Glu1176Ala) c.813A>C | |
X | g.53380646C>A | CA413241894 | SMC1A | c.3592G>T (p.Glu1198Ter) c.2824G>T (p.Glu942Ter) c.3526G>T (p.Glu1176Ter) c.812G>T | |
X | g.53380646C= | CA2429816946 | SMC1A | c.3592G= (p.Glu1198=) c.2824G= (p.Glu942=) c.3526G= (p.Glu1176=) c.812G= | |
X | g.53380646C>G | CA413241898 | SMC1A | c.3592G>C (p.Glu1198Gln) c.2824G>C (p.Glu942Gln) c.3526G>C (p.Glu1176Gln) c.812G>C | ClinVar dbSNP |
X | g.53380646C>T | CA10420258 | SMC1A | c.3592G>A (p.Glu1198Lys) c.2824G>A (p.Glu942Lys) c.3526G>A (p.Glu1176Lys) c.812G>A | ClinVar dbSNP ExAC gnomAD v4 COSMIC |
X | g.53380647G>A | CA148481 | SMC1A | c.3591C>T (p.Ala1197=) c.2823C>T (p.Ala941=) c.3525C>T (p.Ala1175=) c.811C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53380647G>C | CA516553423 | SMC1A | c.3591C>G (p.Ala1197=) c.2823C>G (p.Ala941=) c.3525C>G (p.Ala1175=) c.811C>G | ClinVar dbSNP gnomAD v4 |
X | g.53380647G= | CA2429816947 | SMC1A | c.3591C= (p.Ala1197=) c.2823C= (p.Ala941=) c.3525C= (p.Ala1175=) c.811C= | |
X | g.53380647G>T | CA516553428 | SMC1A | c.3591C>A (p.Ala1197=) c.2823C>A (p.Ala941=) c.3525C>A (p.Ala1175=) c.811C>A | |
X | g.53380648G>A | CA413241910 | SMC1A | c.3590C>T (p.Ala1197Val) c.2822C>T (p.Ala941Val) c.3524C>T (p.Ala1175Val) c.810C>T | COSMIC |
X | g.53380648G>C | CA413241913 | SMC1A | c.3590C>G (p.Ala1197Gly) c.2822C>G (p.Ala941Gly) c.3524C>G (p.Ala1175Gly) c.810C>G | |
X | g.53380648G>T | CA413241921 | SMC1A | c.3590C>A (p.Ala1197Asp) c.2822C>A (p.Ala941Asp) c.3524C>A (p.Ala1175Asp) c.810C>A | gnomAD v4 |
X | g.53380649C>A | CA413241924 | SMC1A | c.3589G>T (p.Ala1197Ser) c.2821G>T (p.Ala941Ser) c.3523G>T (p.Ala1175Ser) c.809G>T | |
X | g.53380649C>G | CA413241928 | SMC1A | c.3589G>C (p.Ala1197Pro) c.2821G>C (p.Ala941Pro) c.3523G>C (p.Ala1175Pro) c.809G>C | |
X | g.53380649C>T | CA413241930 | SMC1A | c.3589G>A (p.Ala1197Thr) c.2821G>A (p.Ala941Thr) c.3523G>A (p.Ala1175Thr) c.809G>A | |
X | g.53380649delinsTAGAGTT | CA2580101183 | SMC1A | c.3589delinsAACTCTA (p.Ala1197delinsAsnSerThr) c.2821delinsAACTCTA (p.Ala941delinsAsnSerThr) c.3523delinsAACTCTA (p.Ala1175delinsAsnSerThr) c.809delinsAACTCTA | ClinVar dbSNP |
X | g.53380650C>A | CA413241953 | SMC1A | c.3588G>T (p.Lys1196Asn) c.2820G>T (p.Lys940Asn) c.3522G>T (p.Lys1174Asn) c.808G>T | |
X | g.53380650C>G | CA413241956 | SMC1A | c.3588G>C (p.Lys1196Asn) c.2820G>C (p.Lys940Asn) c.3522G>C (p.Lys1174Asn) c.808G>C | |
X | g.53380650C>T | CA516553434 | SMC1A | c.3588G>A (p.Lys1196=) c.2820G>A (p.Lys940=) c.3522G>A (p.Lys1174=) c.808G>A | gnomAD v4 |
X | g.53380651T>A | CA413241963 | SMC1A | c.3587A>T (p.Lys1196Met) c.2819A>T (p.Lys940Met) c.3521A>T (p.Lys1174Met) c.807A>T | |
X | g.53380651T>C | CA413241961 | SMC1A | c.3587A>G (p.Lys1196Arg) c.2819A>G (p.Lys940Arg) c.3521A>G (p.Lys1174Arg) c.807A>G | |
X | g.53380651T>G | CA413241959 | SMC1A | c.3587A>C (p.Lys1196Thr) c.2819A>C (p.Lys940Thr) c.3521A>C (p.Lys1174Thr) c.807A>C | |
X | g.53380652T>A | CA413241964 | SMC1A | c.3586A>T (p.Lys1196Ter) c.2818A>T (p.Lys940Ter) c.3520A>T (p.Lys1174Ter) c.806A>T | |
X | g.53380652T>C | CA413241965 | SMC1A | c.3586A>G (p.Lys1196Glu) c.2818A>G (p.Lys940Glu) c.3520A>G (p.Lys1174Glu) c.806A>G | |
X | g.53380652T>G | CA413241966 | SMC1A | c.3586A>C (p.Lys1196Gln) c.2818A>C (p.Lys940Gln) c.3520A>C (p.Lys1174Gln) c.806A>C | |
X | g.53380653G>A | CA516553445 | SMC1A | c.3585C>T (p.Thr1195=) c.2817C>T (p.Thr939=) c.3519C>T (p.Thr1173=) c.805C>T | |
X | g.53380653G>C | CA10420259 | SMC1A | c.3585C>G (p.Thr1195=) c.2817C>G (p.Thr939=) c.3519C>G (p.Thr1173=) c.805C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53380653G= | CA2429816948 | SMC1A | c.3585C= (p.Thr1195=) c.2817C= (p.Thr939=) c.3519C= (p.Thr1173=) c.805C= | |
X | g.53380653G>T | CA516553447 | SMC1A | c.3585C>A (p.Thr1195=) c.2817C>A (p.Thr939=) c.3519C>A (p.Thr1173=) c.805C>A | |
X | g.53380654G>A | CA10420260 | SMC1A | c.3584C>T (p.Thr1195Ile) c.2816C>T (p.Thr939Ile) c.3518C>T (p.Thr1173Ile) c.804C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53380654G>C | CA413241972 | SMC1A | c.3584C>G (p.Thr1195Ser) c.2816C>G (p.Thr939Ser) c.3518C>G (p.Thr1173Ser) c.804C>G | |
X | g.53380654G= | CA2429816949 | SMC1A | c.3584C= (p.Thr1195=) c.2816C= (p.Thr939=) c.3518C= (p.Thr1173=) c.804C= | |
X | g.53380654G>T | CA413241974 | SMC1A | c.3584C>A (p.Thr1195Asn) c.2816C>A (p.Thr939Asn) c.3518C>A (p.Thr1173Asn) c.804C>A | gnomAD v4 |
X | g.53380655T>A | CA413241976 | SMC1A | c.3583A>T (p.Thr1195Ser) c.2815A>T (p.Thr939Ser) c.3517A>T (p.Thr1173Ser) c.803A>T | |
X | g.53380655T>C | CA413241978 | SMC1A | c.3583A>G (p.Thr1195Ala) c.2815A>G (p.Thr939Ala) c.3517A>G (p.Thr1173Ala) c.803A>G | |
X | g.53380655T>G | CA413241981 | SMC1A | c.3583A>C (p.Thr1195Pro) c.2815A>C (p.Thr939Pro) c.3517A>C (p.Thr1173Pro) c.803A>C | |
X | g.53380656G>A | CA516553456 | SMC1A | c.3582C>T (p.Tyr1194=) c.2814C>T (p.Tyr938=) c.3516C>T (p.Tyr1172=) c.802C>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.53380656G>C | CA413241989 | SMC1A | c.3582C>G (p.Tyr1194Ter) c.2814C>G (p.Tyr938Ter) c.3516C>G (p.Tyr1172Ter) c.802C>G | |
X | g.53380656G= | CA2429816950 | SMC1A | c.3582C= (p.Tyr1194=) c.2814C= (p.Tyr938=) c.3516C= (p.Tyr1172=) c.802C= | |
X | g.53380656G>T | CA413241990 | SMC1A | c.3582C>A (p.Tyr1194Ter) c.2814C>A (p.Tyr938Ter) c.3516C>A (p.Tyr1172Ter) c.802C>A | |
X | g.53380657T>A | CA413241998 | SMC1A | c.3581A>T (p.Tyr1194Phe) c.2813A>T (p.Tyr938Phe) c.3515A>T (p.Tyr1172Phe) c.801A>T | |
X | g.53380657T>C | CA413241995 | SMC1A | c.3581A>G (p.Tyr1194Cys) c.2813A>G (p.Tyr938Cys) c.3515A>G (p.Tyr1172Cys) c.801A>G | |
X | g.53380657T>G | CA413241993 | SMC1A | c.3581A>C (p.Tyr1194Ser) c.2813A>C (p.Tyr938Ser) c.3515A>C (p.Tyr1172Ser) c.801A>C | |
X | g.53380658del | CA2579615479 | SMC1A | c.3580del (p.Tyr1194ThrfsTer18) c.2812del (p.Tyr938ThrfsTer18) c.3514del (p.Tyr1172ThrfsTer18) c.800del | |
X | g.53380658A>C | CA413241999 | SMC1A | c.3580T>G (p.Tyr1194Asp) c.2812T>G (p.Tyr938Asp) c.3514T>G (p.Tyr1172Asp) c.800T>G | |
X | g.53380658A>G | CA413242000 | SMC1A | c.3580T>C (p.Tyr1194His) c.2812T>C (p.Tyr938His) c.3514T>C (p.Tyr1172His) c.800T>C | |
X | g.53380658A>T | CA413242001 | SMC1A | c.3580T>A (p.Tyr1194Asn) c.2812T>A (p.Tyr938Asn) c.3514T>A (p.Tyr1172Asn) c.800T>A | |
X | g.53380659G>A | CA516553466 | SMC1A | c.3579C>T (p.Phe1193=) c.2811C>T (p.Phe937=) c.3513C>T (p.Phe1171=) c.799C>T | |
X | g.53380659G>C | CA413242002 | SMC1A | c.3579C>G (p.Phe1193Leu) c.2811C>G (p.Phe937Leu) c.3513C>G (p.Phe1171Leu) c.799C>G | |
X | g.53380659G>T | CA413242003 | SMC1A | c.3579C>A (p.Phe1193Leu) c.2811C>A (p.Phe937Leu) c.3513C>A (p.Phe1171Leu) c.799C>A | gnomAD v4 |
X | g.53380660A= | CA2429816951 | SMC1A | c.3578T= (p.Phe1193=) c.2810T= (p.Phe937=) c.3512T= (p.Phe1171=) c.798T= | |
X | g.53380660A>C | CA358103 | SMC1A | c.3578T>G (p.Phe1193Cys) c.2810T>G (p.Phe937Cys) c.3512T>G (p.Phe1171Cys) c.798T>G | ClinVar dbSNP |
X | g.53380660A>G | CA413242006 | SMC1A | c.3578T>C (p.Phe1193Ser) c.2810T>C (p.Phe937Ser) c.3512T>C (p.Phe1171Ser) c.798T>C | |
X | g.53380660A>T | CA413242009 | SMC1A | c.3578T>A (p.Phe1193Tyr) c.2810T>A (p.Phe937Tyr) c.3512T>A (p.Phe1171Tyr) c.798T>A | |
X | g.53380661A>C | CA413242013 | SMC1A | c.3577T>G (p.Phe1193Val) c.2809T>G (p.Phe937Val) c.3511T>G (p.Phe1171Val) c.797T>G | |
X | g.53380661A>G | CA413242014 | SMC1A | c.3577T>C (p.Phe1193Leu) c.2809T>C (p.Phe937Leu) c.3511T>C (p.Phe1171Leu) c.797T>C | |
X | g.53380661A>T | CA413242017 | SMC1A | c.3577T>A (p.Phe1193Ile) c.2809T>A (p.Phe937Ile) c.3511T>A (p.Phe1171Ile) c.797T>A | |
X | g.53380662C>A | CA413242023 | SMC1A | c.3576G>T (p.Glu1192Asp) c.2808G>T (p.Glu936Asp) c.3510G>T (p.Glu1170Asp) c.796G>T | |
X | g.53380662C>G | CA413242025 | SMC1A | c.3576G>C (p.Glu1192Asp) c.2808G>C (p.Glu936Asp) c.3510G>C (p.Glu1170Asp) c.796G>C | |
X | g.53380662C>T | CA516553481 | SMC1A | c.3576G>A (p.Glu1192=) c.2808G>A (p.Glu936=) c.3510G>A (p.Glu1170=) c.796G>A | |
X | g.53380667_53380669del | CA2695234305 | SMC1A | c.3574_3576del (p.Glu1192del) c.2806_2808del (p.Glu936del) c.3508_3510del (p.Glu1170del) c.794_796del | |
X | g.53380663T>A | CA413242051 | SMC1A | c.3575A>T (p.Glu1192Val) c.2807A>T (p.Glu936Val) c.3509A>T (p.Glu1170Val) c.795A>T | |
X | g.53380663T>C | CA413242047 | SMC1A | c.3575A>G (p.Glu1192Gly) c.2807A>G (p.Glu936Gly) c.3509A>G (p.Glu1170Gly) c.795A>G | |
X | g.53380663T>G | CA413242032 | SMC1A | c.3575A>C (p.Glu1192Ala) c.2807A>C (p.Glu936Ala) c.3509A>C (p.Glu1170Ala) c.795A>C | |
X | g.53380664C>A | CA413242054 | SMC1A | c.3574G>T (p.Glu1192Ter) c.2806G>T (p.Glu936Ter) c.3508G>T (p.Glu1170Ter) c.794G>T | |
X | g.53380664C>G | CA413242053 | SMC1A | c.3574G>C (p.Glu1192Gln) c.2806G>C (p.Glu936Gln) c.3508G>C (p.Glu1170Gln) c.794G>C | |
X | g.53380664C>T | CA413242058 | SMC1A | c.3574G>A (p.Glu1192Lys) c.2806G>A (p.Glu936Lys) c.3508G>A (p.Glu1170Lys) c.794G>A | |
X | g.53380664_53380665insGGTGGT | CA2548188918 | SMC1A | c.3573_3574insACCACC (p.Glu1191_Glu1192insThrThr) c.2805_2806insACCACC (p.Glu935_Glu936insThrThr) c.3507_3508insACCACC (p.Glu1169_Glu1170insThrThr) c.793_794insACCACC | |
X | g.53380665C>A | CA413242060 | SMC1A | c.3573G>T (p.Glu1191Asp) c.2805G>T (p.Glu935Asp) c.3507G>T (p.Glu1169Asp) c.793G>T | |
X | g.53380665C>G | CA413242061 | SMC1A | c.3573G>C (p.Glu1191Asp) c.2805G>C (p.Glu935Asp) c.3507G>C (p.Glu1169Asp) c.793G>C | |
X | g.53380665C>T | CA516553491 | SMC1A | c.3573G>A (p.Glu1191=) c.2805G>A (p.Glu935=) c.3507G>A (p.Glu1169=) c.793G>A | |
X | g.53380665_53380666insGCCGTA | CA2528807567 | SMC1A | c.3572_3573insTACGGC (p.Glu1191delinsAspThrAla) c.2804_2805insTACGGC (p.Glu935delinsAspThrAla) c.3506_3507insTACGGC (p.Glu1169delinsAspThrAla) c.792_793insTACGGC | |
X | g.53380666T>A | CA413242065 | SMC1A | c.3572A>T (p.Glu1191Val) c.2804A>T (p.Glu935Val) c.3506A>T (p.Glu1169Val) c.792A>T | |
X | g.53380666T>C | CA413242067 | SMC1A | c.3572A>G (p.Glu1191Gly) c.2804A>G (p.Glu935Gly) c.3506A>G (p.Glu1169Gly) c.792A>G | |
X | g.53380666T>G | CA413242069 | SMC1A | c.3572A>C (p.Glu1191Ala) c.2804A>C (p.Glu935Ala) c.3506A>C (p.Glu1169Ala) c.792A>C | |
X | g.53380667C>A | CA413242070 | SMC1A | c.3571G>T (p.Glu1191Ter) c.2803G>T (p.Glu935Ter) c.3505G>T (p.Glu1169Ter) c.791G>T | |
X | g.53380667C>G | CA413242071 | SMC1A | c.3571G>C (p.Glu1191Gln) c.2803G>C (p.Glu935Gln) c.3505G>C (p.Glu1169Gln) c.791G>C | |
X | g.53380667C>T | CA413242072 | SMC1A | c.3571G>A (p.Glu1191Lys) c.2803G>A (p.Glu935Lys) c.3505G>A (p.Glu1169Lys) c.791G>A | |
X | g.53380668C>A | CA413242089 | SMC1A | c.3570G>T (p.Lys1190Asn) c.2802G>T (p.Lys934Asn) c.3504G>T (p.Lys1168Asn) c.790G>T | |
X | g.53380668C= | CA2429816952 | SMC1A | c.3570G= (p.Lys1190=) c.2802G= (p.Lys934=) c.3504G= (p.Lys1168=) c.790G= | |
X | g.53380668C>G | CA413242095 | SMC1A | c.3570G>C (p.Lys1190Asn) c.2802G>C (p.Lys934Asn) c.3504G>C (p.Lys1168Asn) c.790G>C | |
X | g.53380668C>T | CA10420261 | SMC1A | c.3570G>A (p.Lys1190=) c.2802G>A (p.Lys934=) c.3504G>A (p.Lys1168=) c.790G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53380669T>A | CA413242096 | SMC1A | c.3569A>T (p.Lys1190Met) c.2801A>T (p.Lys934Met) c.3503A>T (p.Lys1168Met) c.789A>T | |
X | g.53380669T>C | CA413242097 | SMC1A | c.3569A>G (p.Lys1190Arg) c.2801A>G (p.Lys934Arg) c.3503A>G (p.Lys1168Arg) c.789A>G | |
X | g.53380669T>G | CA413242099 | SMC1A | c.3569A>C (p.Lys1190Thr) c.2801A>C (p.Lys934Thr) c.3503A>C (p.Lys1168Thr) c.789A>C | |
X | g.53380670T>A | CA413242102 | SMC1A | c.3568A>T (p.Lys1190Ter) c.2800A>T (p.Lys934Ter) c.3502A>T (p.Lys1168Ter) c.788A>T | |
X | g.53380670T>C | CA16608948 | SMC1A | c.3568A>G (p.Lys1190Glu) c.2800A>G (p.Lys934Glu) c.3502A>G (p.Lys1168Glu) c.788A>G | ClinVar dbSNP |
X | g.53380670T>G | CA413242104 | SMC1A | c.3568A>C (p.Lys1190Gln) c.2800A>C (p.Lys934Gln) c.3502A>C (p.Lys1168Gln) c.788A>C | ClinVar dbSNP gnomAD v4 |
X | g.53380670T= | CA2429816953 | SMC1A | c.3568A= (p.Lys1190=) c.2800A= (p.Lys934=) c.3502A= (p.Lys1168=) c.788A= | |
X | g.53380671G>A | CA10420262 | SMC1A | c.3567C>T (p.Leu1189=) c.2799C>T (p.Leu933=) c.3501C>T (p.Leu1167=) c.787C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53380671G>C | CA516553515 | SMC1A | c.3567C>G (p.Leu1189=) c.2799C>G (p.Leu933=) c.3501C>G (p.Leu1167=) c.787C>G | |
X | g.53380671G= | CA2429816954 | SMC1A | c.3567C= (p.Leu1189=) c.2799C= (p.Leu933=) c.3501C= (p.Leu1167=) c.787C= | |
X | g.53380671G>T | CA516553513 | SMC1A | c.3567C>A (p.Leu1189=) c.2799C>A (p.Leu933=) c.3501C>A (p.Leu1167=) c.787C>A | |
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.53380672A>C | CA413242118 | SMC1A | c.3566T>G (p.Leu1189Arg) c.2798T>G (p.Leu933Arg) c.3500T>G (p.Leu1167Arg) c.786T>G | |
X | g.53380672A>G | CA413242120 | SMC1A | c.3566T>C (p.Leu1189Pro) c.2798T>C (p.Leu933Pro) c.3500T>C (p.Leu1167Pro) c.786T>C | |
X | g.53380672A>T | CA413242123 | SMC1A | c.3566T>A (p.Leu1189His) c.2798T>A (p.Leu933His) c.3500T>A (p.Leu1167His) c.786T>A | |
X | g.53380673G>A | CA413242124 | SMC1A | c.3565C>T (p.Leu1189Phe) c.2797C>T (p.Leu933Phe) c.3499C>T (p.Leu1167Phe) c.785C>T | |
X | g.53380673G>C | CA413242126 | SMC1A | c.3565C>G (p.Leu1189Val) c.2797C>G (p.Leu933Val) c.3499C>G (p.Leu1167Val) c.785C>G | |
X | g.53380673G>T | CA413242127 | SMC1A | c.3565C>A (p.Leu1189Ile) c.2797C>A (p.Leu933Ile) c.3499C>A (p.Leu1167Ile) c.785C>A | |
X | g.53380674A>C | CA516553527 | SMC1A | c.3564T>G (p.Ser1188=) c.2796T>G (p.Ser932=) c.3498T>G (p.Ser1166=) c.784T>G | |
X | g.53380674A>G | CA516553526 | SMC1A | c.3564T>C (p.Ser1188=) c.2796T>C (p.Ser932=) c.3498T>C (p.Ser1166=) c.784T>C | gnomAD v3 gnomAD v4 |
X | g.53380674A>T | CA516553524 | SMC1A | c.3564T>A (p.Ser1188=) c.2796T>A (p.Ser932=) c.3498T>A (p.Ser1166=) c.784T>A | |
X | g.53380675G>A | CA413242129 | SMC1A | c.3563C>T (p.Ser1188Phe) c.2795C>T (p.Ser932Phe) c.3497C>T (p.Ser1166Phe) c.783C>T | |
X | g.53380675G>C | CA413242132 | SMC1A | c.3563C>G (p.Ser1188Cys) c.2795C>G (p.Ser932Cys) c.3497C>G (p.Ser1166Cys) c.783C>G | |
X | g.53380675G>T | CA413242144 | SMC1A | c.3563C>A (p.Ser1188Tyr) c.2795C>A (p.Ser932Tyr) c.3497C>A (p.Ser1166Tyr) c.783C>A | |
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 |