Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53380568C>A | CA2693803082 | SMC1A | c.3618+52G>T (n.3618+52G>T) c.2850+52G>T (n.2850+52G>T) c.3552+52G>T (n.3552+52G>T) | gnomAD v4 |
X | g.53380569T>C | CA10420249 | SMC1A | c.3618+51A>G (n.3618+51A>G) c.2850+51A>G (n.2850+51A>G) c.3552+51A>G (n.3552+51A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53380569T= | CA2429816924 | SMC1A | c.3618+51A= (n.3618+51A=) c.2850+51A= (n.2850+51A=) c.3552+51A= (n.3552+51A=) | |
X | g.53380570G>T | CA2579615429 | SMC1A | c.3618+50C>A (n.3618+50C>A) c.2850+50C>A (n.2850+50C>A) c.3552+50C>A (n.3552+50C>A) | gnomAD v4 |
X | g.53380572del | CA2579615428 | SMC1A | c.3618+50del (n.3618+50del) c.2850+50del (n.2850+50del) c.3552+50del (n.3552+50del) | |
X | g.53380571G>T | CA2579615430 | SMC1A | c.3618+49C>A (n.3618+49C>A) c.2850+49C>A (n.2850+49C>A) c.3552+49C>A (n.3552+49C>A) | gnomAD v4 |
X | g.53380572G>T | CA2579615431 | SMC1A | c.3618+48C>A (n.3618+48C>A) c.2850+48C>A (n.2850+48C>A) c.3552+48C>A (n.3552+48C>A) | gnomAD v4 |
X | g.53380573A>G | CA2579615432 | SMC1A | c.3618+47T>C (n.3618+47T>C) c.2850+47T>C (n.2850+47T>C) c.3552+47T>C (n.3552+47T>C) | |
X | g.53380574A>G | CA2693803083 | SMC1A | c.3618+46T>C (n.3618+46T>C) c.2850+46T>C (n.2850+46T>C) c.3552+46T>C (n.3552+46T>C) | gnomAD v4 |
X | g.53380575A>G | CA2579615433 | SMC1A | c.3618+45T>C (n.3618+45T>C) c.2850+45T>C (n.2850+45T>C) c.3552+45T>C (n.3552+45T>C) | |
X | g.53380578A>G | CA2693803084 | SMC1A | c.3618+42T>C (n.3618+42T>C) c.2850+42T>C (n.2850+42T>C) c.3552+42T>C (n.3552+42T>C) | gnomAD v4 |
X | g.53380579G>A | CA2693803085 | SMC1A | c.3618+41C>T (n.3618+41C>T) c.2850+41C>T (n.2850+41C>T) c.3552+41C>T (n.3552+41C>T) | gnomAD v4 |
X | g.53380579G>T | CA2579615434 | SMC1A | c.3618+41C>A (n.3618+41C>A) c.2850+41C>A (n.2850+41C>A) c.3552+41C>A (n.3552+41C>A) | gnomAD v4 |
X | g.53380580G>T | CA2693803086 | SMC1A | c.3618+40C>A (n.3618+40C>A) c.2850+40C>A (n.2850+40C>A) c.3552+40C>A (n.3552+40C>A) | gnomAD v4 |
X | g.53380581C>A | CA2693803087 | SMC1A | c.3618+39G>T (n.3618+39G>T) c.2850+39G>T (n.2850+39G>T) c.3552+39G>T (n.3552+39G>T) | gnomAD v4 |
X | g.53380581C>T | CA2505047445 | SMC1A | c.3618+39G>A (n.3618+39G>A) c.2850+39G>A (n.2850+39G>A) c.3552+39G>A (n.3552+39G>A) | |
X | g.53380583G>A | CA10420250 | SMC1A | c.3618+37C>T (n.3618+37C>T) c.2850+37C>T (n.2850+37C>T) c.3552+37C>T (n.3552+37C>T) | dbSNP ExAC gnomAD v4 |
X | g.53380583G= | CA2429816925 | SMC1A | c.3618+37C= (n.3618+37C=) c.2850+37C= (n.2850+37C=) c.3552+37C= (n.3552+37C=) | |
X | g.53380583G>T | CA2693803088 | SMC1A | c.3618+37C>A (n.3618+37C>A) c.2850+37C>A (n.2850+37C>A) c.3552+37C>A (n.3552+37C>A) | gnomAD v4 |
X | g.53380584G>T | CA2579615435 | SMC1A | c.3618+36C>A (n.3618+36C>A) c.2850+36C>A (n.2850+36C>A) c.3552+36C>A (n.3552+36C>A) | |
X | g.53380585G>A | CA641885830 | SMC1A | c.3618+35C>T (n.3618+35C>T) c.2850+35C>T (n.2850+35C>T) c.3552+35C>T (n.3552+35C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53380585G= | CA2429816926 | SMC1A | c.3618+35C= (n.3618+35C=) c.2850+35C= (n.2850+35C=) c.3552+35C= (n.3552+35C=) | |
X | g.53380585G>T | CA2579615436 | SMC1A | c.3618+35C>A (n.3618+35C>A) c.2850+35C>A (n.2850+35C>A) c.3552+35C>A (n.3552+35C>A) | gnomAD v4 |
X | g.53380586A>C | CA2693803089 | SMC1A | c.3618+34T>G (n.3618+34T>G) c.2850+34T>G (n.2850+34T>G) c.3552+34T>G (n.3552+34T>G) | gnomAD v4 |
X | g.53380587G>A | CA641885832 | SMC1A | c.3618+33C>T (n.3618+33C>T) c.2850+33C>T (n.2850+33C>T) c.3552+33C>T (n.3552+33C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53380587G= | CA2429816927 | SMC1A | c.3618+33C= (n.3618+33C=) c.2850+33C= (n.2850+33C=) c.3552+33C= (n.3552+33C=) | |
X | g.53380588T>C | CA2429816929 | SMC1A | c.3618+32A>G (n.3618+32A>G) c.2850+32A>G (n.2850+32A>G) c.3552+32A>G (n.3552+32A>G) | dbSNP |
X | g.53380588T= | CA2429816928 | SMC1A | c.3618+32A= (n.3618+32A=) c.2850+32A= (n.2850+32A=) c.3552+32A= (n.3552+32A=) | |
X | g.53380588_53380589insG | CA2579615437 | SMC1A | c.3618+31_3618+32insC (n.3618+31_3618+32insC) c.2850+31_2850+32insC (n.2850+31_2850+32insC) c.3552+31_3552+32insC (n.3552+31_3552+32insC) | |
X | g.53380589A>G | CA2579615438 | SMC1A | c.3618+31T>C (n.3618+31T>C) c.2850+31T>C (n.2850+31T>C) c.3552+31T>C (n.3552+31T>C) | |
X | g.53380590G>T | CA2693803090 | SMC1A | c.3618+30C>A (n.3618+30C>A) c.2850+30C>A (n.2850+30C>A) c.3552+30C>A (n.3552+30C>A) | gnomAD v4 |
X | g.53380591G>A | CA2693803091 | SMC1A | c.3618+29C>T (n.3618+29C>T) c.2850+29C>T (n.2850+29C>T) c.3552+29C>T (n.3552+29C>T) | gnomAD v4 |
X | g.53380591G>T | CA2693803092 | SMC1A | c.3618+29C>A (n.3618+29C>A) c.2850+29C>A (n.2850+29C>A) c.3552+29C>A (n.3552+29C>A) | gnomAD v4 |
X | g.53380592A>C | CA2579615439 | SMC1A | c.3618+28T>G (n.3618+28T>G) c.2850+28T>G (n.2850+28T>G) c.3552+28T>G (n.3552+28T>G) | |
X | g.53380592A>G | CA2579615440 | SMC1A | c.3618+28T>C (n.3618+28T>C) c.2850+28T>C (n.2850+28T>C) c.3552+28T>C (n.3552+28T>C) | |
X | g.53380593C>A | CA641885835 | SMC1A | c.3618+27G>T (n.3618+27G>T) c.2850+27G>T (n.2850+27G>T) c.3552+27G>T (n.3552+27G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53380593C= | CA2429816930 | SMC1A | c.3618+27G= (n.3618+27G=) c.2850+27G= (n.2850+27G=) c.3552+27G= (n.3552+27G=) | |
X | g.53380593C>T | CA2693803093 | SMC1A | c.3618+27G>A (n.3618+27G>A) c.2850+27G>A (n.2850+27G>A) c.3552+27G>A (n.3552+27G>A) | gnomAD v4 |
X | g.53380594T>A | CA2693803094 | SMC1A | c.3618+26A>T (n.3618+26A>T) c.2850+26A>T (n.2850+26A>T) c.3552+26A>T (n.3552+26A>T) | gnomAD v4 |
X | g.53380595G>C | CA2429816932 | SMC1A | c.3618+25C>G (n.3618+25C>G) c.2850+25C>G (n.2850+25C>G) c.3552+25C>G (n.3552+25C>G) | dbSNP |
X | g.53380595G= | CA2429816931 | SMC1A | c.3618+25C= (n.3618+25C=) c.2850+25C= (n.2850+25C=) c.3552+25C= (n.3552+25C=) | |
X | g.53380596G>A | CA2693803095 | SMC1A | c.3618+24C>T (n.3618+24C>T) c.2850+24C>T (n.2850+24C>T) c.3552+24C>T (n.3552+24C>T) | gnomAD v4 |
X | g.53380596G>T | CA2693803096 | SMC1A | c.3618+24C>A (n.3618+24C>A) c.2850+24C>A (n.2850+24C>A) c.3552+24C>A (n.3552+24C>A) | gnomAD v4 |
X | g.53380597C= | CA2429816933 | SMC1A | c.3618+23G= (n.3618+23G=) c.2850+23G= (n.2850+23G=) c.3552+23G= (n.3552+23G=) | |
X | g.53380597C>T | CA641885838 | SMC1A | c.3618+23G>A (n.3618+23G>A) c.2850+23G>A (n.2850+23G>A) c.3552+23G>A (n.3552+23G>A) | dbSNP gnomAD v2 |
X | g.53380598T>C | CA2693803097 | SMC1A | c.3618+22A>G (n.3618+22A>G) c.2850+22A>G (n.2850+22A>G) c.3552+22A>G (n.3552+22A>G) | gnomAD v4 |
X | g.53380600C>A | CA2579615441 | SMC1A | c.3618+20G>T (n.3618+20G>T) c.2850+20G>T (n.2850+20G>T) c.3552+20G>T (n.3552+20G>T) | |
X | g.53380601T>C | CA2429816934 | SMC1A | c.3618+19A>G (n.3618+19A>G) c.2850+19A>G (n.2850+19A>G) c.3552+19A>G (n.3552+19A>G) | dbSNP gnomAD v4 |
X | g.53380601T>G | CA2579615442 | SMC1A | c.3618+19A>C (n.3618+19A>C) c.2850+19A>C (n.2850+19A>C) c.3552+19A>C (n.3552+19A>C) | |
X | g.53380601T= | CA2429816935 | SMC1A | c.3618+19A= (n.3618+19A=) c.2850+19A= (n.2850+19A=) c.3552+19A= (n.3552+19A=) | |
X | g.53380602G>T | CA2579615443 | SMC1A | c.3618+18C>A (n.3618+18C>A) c.2850+18C>A (n.2850+18C>A) c.3552+18C>A (n.3552+18C>A) | gnomAD v4 |
X | g.53380603A>G | CA2693803098 | SMC1A | c.3618+17T>C (n.3618+17T>C) c.2850+17T>C (n.2850+17T>C) c.3552+17T>C (n.3552+17T>C) | gnomAD v4 |
X | g.53380604G>A | CA2693803099 | SMC1A | c.3618+16C>T (n.3618+16C>T) c.2850+16C>T (n.2850+16C>T) c.3552+16C>T (n.3552+16C>T) | gnomAD v4 |
X | g.53380604G>T | CA2693803100 | SMC1A | c.3618+16C>A (n.3618+16C>A) c.2850+16C>A (n.2850+16C>A) c.3552+16C>A (n.3552+16C>A) | gnomAD v4 |
X | g.53380605C>T | CA2558549696 | SMC1A | c.3618+15G>A (n.3618+15G>A) c.2850+15G>A (n.2850+15G>A) c.3552+15G>A (n.3552+15G>A) | gnomAD v4 |
X | g.53380606C>A | CA2536660737 | SMC1A | c.3618+14G>T (n.3618+14G>T) c.2850+14G>T (n.2850+14G>T) c.3552+14G>T (n.3552+14G>T) | |
X | g.53380606C>G | CA2693803101 | SMC1A | c.3618+14G>C (n.3618+14G>C) c.2850+14G>C (n.2850+14G>C) c.3552+14G>C (n.3552+14G>C) | gnomAD v4 |
X | g.53380607A= | CA2429816936 | SMC1A | c.3618+13T= (n.3618+13T=) c.2850+13T= (n.2850+13T=) c.3552+13T= (n.3552+13T=) | |
X | g.53380607A>G | CA10420251 | SMC1A | c.3618+13T>C (n.3618+13T>C) c.2850+13T>C (n.2850+13T>C) c.3552+13T>C (n.3552+13T>C) | dbSNP ExAC |
X | g.53380608G>T | CA2579615444 | SMC1A | c.3618+12C>A (n.3618+12C>A) c.2850+12C>A (n.2850+12C>A) c.3552+12C>A (n.3552+12C>A) | gnomAD v4 |
X | g.53380609G>A | CA2693803102 | SMC1A | c.3618+11C>T (n.3618+11C>T) c.2850+11C>T (n.2850+11C>T) c.3552+11C>T (n.3552+11C>T) | gnomAD v4 |
X | g.53380609G>T | CA2579615445 | SMC1A | c.3618+11C>A (n.3618+11C>A) c.2850+11C>A (n.2850+11C>A) c.3552+11C>A (n.3552+11C>A) | gnomAD v4 |
X | g.53380610C>A | CA2693803103 | SMC1A | c.3618+10G>T (n.3618+10G>T) c.2850+10G>T (n.2850+10G>T) c.3552+10G>T (n.3552+10G>T) | gnomAD v4 |
X | g.53380610C= | CA2429816937 | SMC1A | c.3618+10G= (n.3618+10G=) c.2850+10G= (n.2850+10G=) c.3552+10G= (n.3552+10G=) | |
X | g.53380610C>T | CA10420252 | SMC1A | c.3618+10G>A (n.3618+10G>A) c.2850+10G>A (n.2850+10G>A) c.3552+10G>A (n.3552+10G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53380611C>T | CA2579615447 | SMC1A | c.3618+9G>A (n.3618+9G>A) c.2850+9G>A (n.2850+9G>A) c.3552+9G>A (n.3552+9G>A) | gnomAD v4 |
X | g.53380612C= | CA2429816938 | SMC1A | c.3618+8G= (n.3618+8G=) c.2850+8G= (n.2850+8G=) c.3552+8G= (n.3552+8G=) | |
X | g.53380612C>G | CA641885840 | SMC1A | c.3618+8G>C (n.3618+8G>C) c.2850+8G>C (n.2850+8G>C) c.3552+8G>C (n.3552+8G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53380612C>T | CA10420253 | SMC1A | c.3618+8G>A (n.3618+8G>A) c.2850+8G>A (n.2850+8G>A) c.3552+8G>A (n.3552+8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53380613G>A | CA10420254 | SMC1A | c.3618+7C>T (n.3618+7C>T) c.2850+7C>T (n.2850+7C>T) c.3552+7C>T (n.3552+7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53380613G>C | CA2693803104 | SMC1A | c.3618+7C>G (n.3618+7C>G) c.2850+7C>G (n.2850+7C>G) c.3552+7C>G (n.3552+7C>G) | gnomAD v4 |
X | g.53380613G= | CA2429816939 | SMC1A | c.3618+7C= (n.3618+7C=) c.2850+7C= (n.2850+7C=) c.3552+7C= (n.3552+7C=) | |
X | g.53380613G>T | CA2693803105 | SMC1A | c.3618+7C>A (n.3618+7C>A) c.2850+7C>A (n.2850+7C>A) c.3552+7C>A (n.3552+7C>A) | gnomAD v4 |
X | g.53380614C>A | CA10420255 | SMC1A | c.3618+6G>T (n.3618+6G>T) c.2850+6G>T (n.2850+6G>T) c.3552+6G>T (n.3552+6G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53380614C= | CA2429816940 | SMC1A | c.3618+6G= (n.3618+6G=) c.2850+6G= (n.2850+6G=) c.3552+6G= (n.3552+6G=) | |
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 |