Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.1630160del | CA2530310704 | SIRPG | c.*2+63del (n.*2+63del) n.227+63del n.315+63del | |
20 | g.1630160C>A | CA2651603932 | SIRPG | c.*2+62G>T (n.*2+62G>T) n.227+62G>T n.315+62G>T | gnomAD v4 |
20 | g.1630160C>T | CA2651603933 | SIRPG | c.*2+62G>A (n.*2+62G>A) n.227+62G>A n.315+62G>A | gnomAD v4 |
20 | g.1630161T>C | CA741594720 | SIRPG | c.*2+61A>G (n.*2+61A>G) n.227+61A>G n.315+61A>G | dbSNP gnomAD v4 |
20 | g.1630161T>G | CA310790997 | SIRPG | c.*2+61A>C (n.*2+61A>C) n.227+61A>C n.315+61A>C | dbSNP gnomAD v4 |
20 | g.1630161T= | CA2345733415 | SIRPG | c.*2+61A= (n.*2+61A=) n.227+61A= n.315+61A= | |
20 | g.1630162del | CA2651603934 | SIRPG | c.*2+61del (n.*2+61del) n.227+61del n.315+61del | gnomAD v4 |
20 | g.1630163C>T | CA2651603935 | SIRPG | c.*2+59G>A (n.*2+59G>A) n.227+59G>A n.315+59G>A | gnomAD v4 |
20 | g.1630164C>A | CA2651603936 | SIRPG | c.*2+58G>T (n.*2+58G>T) n.227+58G>T n.315+58G>T | gnomAD v4 |
20 | g.1630165T>C | CA2651603937 | SIRPG | c.*2+57A>G (n.*2+57A>G) n.227+57A>G n.315+57A>G | gnomAD v4 |
20 | g.1630166G>A | CA14746918 | SIRPG | c.*2+56C>T (n.*2+56C>T) n.227+56C>T n.315+56C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.1630166G>C | CA2580619487 | SIRPG | c.*2+56C>G (n.*2+56C>G) n.227+56C>G n.315+56C>G | |
20 | g.1630166G= | CA2345733416 | SIRPG | c.*2+56C= (n.*2+56C=) n.227+56C= n.315+56C= | |
20 | g.1630166G>T | CA2577317959 | SIRPG | c.*2+56C>A (n.*2+56C>A) n.227+56C>A n.315+56C>A | gnomAD v4 |
20 | g.1630167T>G | CA2651603938 | SIRPG | c.*2+55A>C (n.*2+55A>C) n.227+55A>C n.315+55A>C | gnomAD v4 |
20 | g.1630169G>T | CA2651603939 | SIRPG | c.*2+53C>A (n.*2+53C>A) n.227+53C>A n.315+53C>A | gnomAD v4 |
20 | g.1630170G>A | CA2651603940 | SIRPG | c.*2+52C>T (n.*2+52C>T) n.227+52C>T n.315+52C>T | gnomAD v4 |
20 | g.1630170G>T | CA2651603941 | SIRPG | c.*2+52C>A (n.*2+52C>A) n.227+52C>A n.315+52C>A | gnomAD v4 |
20 | g.1630171C>A | CA2651603942 | SIRPG | c.*2+51G>T (n.*2+51G>T) n.227+51G>T n.315+51G>T | gnomAD v4 |
20 | g.1630171C>T | CA2651603943 | SIRPG | c.*2+51G>A (n.*2+51G>A) n.227+51G>A n.315+51G>A | gnomAD v4 |
20 | g.1630172C>A | CA2651603944 | SIRPG | c.*2+50G>T (n.*2+50G>T) n.227+50G>T n.315+50G>T | gnomAD v4 |
20 | g.1630172C= | CA2345733417 | SIRPG | c.*2+50G= (n.*2+50G=) n.227+50G= n.315+50G= | |
20 | g.1630172C>T | CA310791012 | SIRPG | c.*2+50G>A (n.*2+50G>A) n.227+50G>A n.315+50G>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.1630173T>A | CA2651603946 | SIRPG | c.*2+49A>T (n.*2+49A>T) n.227+49A>T n.315+49A>T | gnomAD v4 |
20 | g.1630174del | CA2651603945 | SIRPG | c.*2+49del (n.*2+49del) n.227+49del n.315+49del | gnomAD v4 |
20 | g.1630174T>C | CA2651603947 | SIRPG | c.*2+48A>G (n.*2+48A>G) n.227+48A>G n.315+48A>G | gnomAD v4 |
20 | g.1630174_1630188delinsTGCCCTTCTGAGACA | CA2345733418 | SIRPG | c.*2+34_*2+48delinsTGTCTCAGAAGGGCA (n.*2+34_*2+48delinsTGTCTCAGAAGGGCA) n.227+34_227+48delinsTGTCTCAGAAGGGCA n.315+34_315+48delinsTGTCTCAGAAGGGCA | |
20 | g.1630175G>T | CA2651603948 | SIRPG | c.*2+47C>A (n.*2+47C>A) n.227+47C>A n.315+47C>A | gnomAD v4 |
20 | g.1630181_1630194del | CA634123381 | SIRPG | c.*2+34_*2+47del (n.*2+34_*2+47del) n.227+34_227+47del n.315+34_315+47del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.1630176C>A | CA2651603949 | SIRPG | c.*2+46G>T (n.*2+46G>T) n.227+46G>T n.315+46G>T | gnomAD v4 |
20 | g.1630176C>T | CA2651603950 | SIRPG | c.*2+46G>A (n.*2+46G>A) n.227+46G>A n.315+46G>A | gnomAD v4 |
20 | g.1630177C>A | CA634123382 | SIRPG | c.*2+45G>T (n.*2+45G>T) n.227+45G>T n.315+45G>T | dbSNP gnomAD v2 gnomAD v4 |
20 | g.1630177C= | CA2345733419 | SIRPG | c.*2+45G= (n.*2+45G=) n.227+45G= n.315+45G= | |
20 | g.1630177C>T | CA2651603951 | SIRPG | c.*2+45G>A (n.*2+45G>A) n.227+45G>A n.315+45G>A | gnomAD v4 |
20 | g.1630178C>A | CA2651603952 | SIRPG | c.*2+44G>T (n.*2+44G>T) n.227+44G>T n.315+44G>T | gnomAD v4 |
20 | g.1630178C>G | CA2815017331 | SIRPG | c.*2+44G>C (n.*2+44G>C) n.227+44G>C n.315+44G>C | |
20 | g.1630178C>T | CA2651603953 | SIRPG | c.*2+44G>A (n.*2+44G>A) n.227+44G>A n.315+44G>A | gnomAD v4 |
20 | g.1630180T>A | CA2651603954 | SIRPG | c.*2+42A>T (n.*2+42A>T) n.227+42A>T n.315+42A>T | gnomAD v4 |
20 | g.1630180T>C | CA9729290 | SIRPG | c.*2+42A>G (n.*2+42A>G) n.227+42A>G n.315+42A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.1630180T= | CA2345733420 | SIRPG | c.*2+42A= (n.*2+42A=) n.227+42A= n.315+42A= | |
20 | g.1630182T>C | CA2577317960 | SIRPG | c.*2+40A>G (n.*2+40A>G) n.227+40A>G n.315+40A>G | gnomAD v4 |
20 | g.1630183G>C | CA9729291 | SIRPG | c.*2+39C>G (n.*2+39C>G) n.227+39C>G n.315+39C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.1630183G= | CA2345733421 | SIRPG | c.*2+39C= (n.*2+39C=) n.227+39C= n.315+39C= | |
20 | g.1630183G>T | CA2651603955 | SIRPG | c.*2+39C>A (n.*2+39C>A) n.227+39C>A n.315+39C>A | gnomAD v4 |
20 | g.1630184A= | CA2345733422 | SIRPG | c.*2+38T= (n.*2+38T=) n.227+38T= n.315+38T= | |
20 | g.1630184A>G | CA9729292 | SIRPG | c.*2+38T>C (n.*2+38T>C) n.227+38T>C n.315+38T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.1630185G>T | CA2651603956 | SIRPG | c.*2+37C>A (n.*2+37C>A) n.227+37C>A n.315+37C>A | gnomAD v4 |
20 | g.1630186A>G | CA2651603957 | SIRPG | c.*2+36T>C (n.*2+36T>C) n.227+36T>C n.315+36T>C | gnomAD v4 |
20 | g.1630187C>A | CA2651603958 | SIRPG | c.*2+35G>T (n.*2+35G>T) n.227+35G>T n.315+35G>T | gnomAD v4 |
20 | g.1630187C= | CA2345733423 | SIRPG | c.*2+35G= (n.*2+35G=) n.227+35G= n.315+35G= | |
20 | g.1630187C>T | CA634123383 | SIRPG | c.*2+35G>A (n.*2+35G>A) n.227+35G>A n.315+35G>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.1630188A= | CA2345733424 | SIRPG | c.*2+34T= (n.*2+34T=) n.227+34T= n.315+34T= | |
20 | g.1630188A>T | CA310791036 | SIRPG | c.*2+34T>A (n.*2+34T>A) n.227+34T>A n.315+34T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.1630189G>A | CA2651603959 | SIRPG | c.*2+33C>T (n.*2+33C>T) n.227+33C>T n.315+33C>T | gnomAD v4 |
20 | g.1630189G>T | CA657421202 | SIRPG | c.*2+33C>A (n.*2+33C>A) n.227+33C>A n.315+33C>A | gnomAD v4 COSMIC |
20 | g.1630190C>A | CA2651603960 | SIRPG | c.*2+32G>T (n.*2+32G>T) n.227+32G>T n.315+32G>T | gnomAD v4 |
20 | g.1630190C>G | CA2651603961 | SIRPG | c.*2+32G>C (n.*2+32G>C) n.227+32G>C n.315+32G>C | gnomAD v4 |
20 | g.1630190C>T | CA2651603962 | SIRPG | c.*2+32G>A (n.*2+32G>A) n.227+32G>A n.315+32G>A | gnomAD v4 |
20 | g.1630191C>A | CA2651603963 | SIRPG | c.*2+31G>T (n.*2+31G>T) n.227+31G>T n.315+31G>T | gnomAD v4 |
20 | g.1630192C>A | CA2651603964 | SIRPG | c.*2+30G>T (n.*2+30G>T) n.227+30G>T n.315+30G>T | gnomAD v4 |
20 | g.1630192C= | CA2345733425 | SIRPG | c.*2+30G= (n.*2+30G=) n.227+30G= n.315+30G= | |
20 | g.1630192C>G | CA634123384 | SIRPG | c.*2+30G>C (n.*2+30G>C) n.227+30G>C n.315+30G>C | dbSNP gnomAD v2 |
20 | g.1630192C>T | CA2651603965 | SIRPG | c.*2+30G>A (n.*2+30G>A) n.227+30G>A n.315+30G>A | gnomAD v4 |
20 | g.1630193T>A | CA657421203 | SIRPG | c.*2+29A>T (n.*2+29A>T) n.227+29A>T n.315+29A>T | gnomAD v4 COSMIC COSMIC |
20 | g.1630193T>C | CA2651603966 | SIRPG | c.*2+29A>G (n.*2+29A>G) n.227+29A>G n.315+29A>G | gnomAD v4 |
20 | g.1630194T>A | CA2651603967 | SIRPG | c.*2+28A>T (n.*2+28A>T) n.227+28A>T n.315+28A>T | gnomAD v4 |
20 | g.1630194T>C | CA9729293 | SIRPG | c.*2+28A>G (n.*2+28A>G) n.227+28A>G n.315+28A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.1630194T= | CA2345733426 | SIRPG | c.*2+28A= (n.*2+28A=) n.227+28A= n.315+28A= | |
20 | g.1630195G>A | CA634123385 | SIRPG | c.*2+27C>T (n.*2+27C>T) n.227+27C>T n.315+27C>T | dbSNP gnomAD v2 gnomAD v4 |
20 | g.1630195G>C | CA2651603968 | SIRPG | c.*2+27C>G (n.*2+27C>G) n.227+27C>G n.315+27C>G | gnomAD v4 |
20 | g.1630195G= | CA2345733427 | SIRPG | c.*2+27C= (n.*2+27C=) n.227+27C= n.315+27C= | |
20 | g.1630195G>T | CA2577317961 | SIRPG | c.*2+27C>A (n.*2+27C>A) n.227+27C>A n.315+27C>A | gnomAD v4 |
20 | g.1630196G>T | CA2651603969 | SIRPG | c.*2+26C>A (n.*2+26C>A) n.227+26C>A n.315+26C>A | gnomAD v4 |
20 | g.1630197T>C | CA310791039 | SIRPG | c.*2+25A>G (n.*2+25A>G) n.227+25A>G n.315+25A>G | dbSNP |
20 | g.1630197T>G | CA2651603970 | SIRPG | c.*2+25A>C (n.*2+25A>C) n.227+25A>C n.315+25A>C | gnomAD v4 |
20 | g.1630197T= | CA2345733428 | SIRPG | c.*2+25A= (n.*2+25A=) n.227+25A= n.315+25A= | |
20 | g.1630198C= | CA2345733429 | SIRPG | c.*2+24G= (n.*2+24G=) n.227+24G= n.315+24G= | |
20 | g.1630198C>G | CA634123386 | SIRPG | c.*2+24G>C (n.*2+24G>C) n.227+24G>C n.315+24G>C | dbSNP gnomAD v2 gnomAD v4 |
20 | g.1630198C>T | CA2651603971 | SIRPG | c.*2+24G>A (n.*2+24G>A) n.227+24G>A n.315+24G>A | gnomAD v4 |
20 | g.1630199T>C | CA2651603972 | SIRPG | c.*2+23A>G (n.*2+23A>G) n.227+23A>G n.315+23A>G | gnomAD v4 |
20 | g.1630200G>A | CA2651603973 | SIRPG | c.*2+22C>T (n.*2+22C>T) n.227+22C>T n.315+22C>T | gnomAD v4 |
20 | g.1630200G>T | CA2651603974 | SIRPG | c.*2+22C>A (n.*2+22C>A) n.227+22C>A n.315+22C>A | gnomAD v4 |
20 | g.1630201T>C | CA9729294 | SIRPG | c.*2+21A>G (n.*2+21A>G) n.227+21A>G n.315+21A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.1630201T= | CA2345733430 | SIRPG | c.*2+21A= (n.*2+21A=) n.227+21A= n.315+21A= | |
20 | g.1630202C>A | CA657421204 | SIRPG | c.*2+20G>T (n.*2+20G>T) n.227+20G>T n.315+20G>T | gnomAD v4 COSMIC |
20 | g.1630202C>T | CA2577317962 | SIRPG | c.*2+20G>A (n.*2+20G>A) n.227+20G>A n.315+20G>A | |
20 | g.1630203C>A | CA2651603975 | SIRPG | c.*2+19G>T (n.*2+19G>T) n.227+19G>T n.315+19G>T | gnomAD v4 |
20 | g.1630203C>T | CA2577317963 | SIRPG | c.*2+19G>A (n.*2+19G>A) n.227+19G>A n.315+19G>A | gnomAD v4 |
20 | g.1630204T>C | CA2651603976 | SIRPG | c.*2+18A>G (n.*2+18A>G) n.227+18A>G n.315+18A>G | gnomAD v4 |
20 | g.1630205C>A | CA2651603977 | SIRPG | c.*2+17G>T (n.*2+17G>T) n.227+17G>T n.315+17G>T | gnomAD v4 |
20 | g.1630205C>G | CA2651603978 | SIRPG | c.*2+17G>C (n.*2+17G>C) n.227+17G>C n.315+17G>C | gnomAD v4 |
20 | g.1630205C>T | CA2651603979 | SIRPG | c.*2+17G>A (n.*2+17G>A) n.227+17G>A n.315+17G>A | gnomAD v4 |
20 | g.1630206C>A | CA9729295 | SIRPG | c.*2+16G>T (n.*2+16G>T) n.227+16G>T n.315+16G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.1630206C= | CA2345733431 | SIRPG | c.*2+16G= (n.*2+16G=) n.227+16G= n.315+16G= | |
20 | g.1630206C>T | CA2345733432 | SIRPG | c.*2+16G>A (n.*2+16G>A) n.227+16G>A n.315+16G>A | dbSNP gnomAD v4 |
20 | g.1630207C>A | CA2651603980 | SIRPG | c.*2+15G>T (n.*2+15G>T) n.227+15G>T n.315+15G>T | gnomAD v4 |
20 | g.1630207C>T | CA2651603981 | SIRPG | c.*2+15G>A (n.*2+15G>A) n.227+15G>A n.315+15G>A | gnomAD v4 |
20 | g.1630208T>A | CA2651603983 | SIRPG | c.*2+14A>T (n.*2+14A>T) n.227+14A>T n.315+14A>T | gnomAD v4 |
20 | g.1630208T>C | CA2651603984 | SIRPG | c.*2+14A>G (n.*2+14A>G) n.227+14A>G n.315+14A>G | gnomAD v4 |
20 | g.1630209del | CA2651603982 | SIRPG | c.*2+14del (n.*2+14del) n.227+14del n.315+14del | gnomAD v4 |
20 | g.1630209T>C | CA9729296 | SIRPG | c.*2+13A>G (n.*2+13A>G) n.227+13A>G n.315+13A>G | dbSNP ExAC gnomAD v2 |
20 | g.1630209T>G | CA741594758 | SIRPG | c.*2+13A>C (n.*2+13A>C) n.227+13A>C n.315+13A>C | dbSNP gnomAD v3 gnomAD v4 |
20 | g.1630209T= | CA2345733433 | SIRPG | c.*2+13A= (n.*2+13A=) n.227+13A= n.315+13A= | |
20 | g.1630210C>A | CA2651603986 | SIRPG | c.*2+12G>T (n.*2+12G>T) n.227+12G>T n.315+12G>T | gnomAD v4 |
20 | g.1630210C= | CA2345733434 | SIRPG | c.*2+12G= (n.*2+12G=) n.227+12G= n.315+12G= | |
20 | g.1630210C>T | CA634123387 | SIRPG | c.*2+12G>A (n.*2+12G>A) n.227+12G>A n.315+12G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.1630211del | CA2651603985 | SIRPG | c.*2+12del (n.*2+12del) n.227+12del n.315+12del | gnomAD v4 |
20 | g.1630211C>A | CA2651603987 | SIRPG | c.*2+11G>T (n.*2+11G>T) n.227+11G>T n.315+11G>T | gnomAD v4 |
20 | g.1630211C= | CA2345733435 | SIRPG | c.*2+11G= (n.*2+11G=) n.227+11G= n.315+11G= | |
20 | g.1630211C>T | CA634123388 | SIRPG | c.*2+11G>A (n.*2+11G>A) n.227+11G>A n.315+11G>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.1630212T>A | CA2651603988 | SIRPG | c.*2+10A>T (n.*2+10A>T) n.227+10A>T n.315+10A>T | gnomAD v4 |
20 | g.1630212T>C | CA9729297 | SIRPG | c.*2+10A>G (n.*2+10A>G) n.227+10A>G n.315+10A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.1630212T>G | CA2651603989 | SIRPG | c.*2+10A>C (n.*2+10A>C) n.227+10A>C n.315+10A>C | gnomAD v4 |
20 | g.1630212T= | CA2345733436 | SIRPG | c.*2+10A= (n.*2+10A=) n.227+10A= n.315+10A= | |
20 | g.1630213T>A | CA2651603990 | SIRPG | c.*2+9A>T (n.*2+9A>T) n.227+9A>T n.315+9A>T | gnomAD v4 |
20 | g.1630213T>C | CA634123389 | SIRPG | c.*2+9A>G (n.*2+9A>G) n.227+9A>G n.315+9A>G | dbSNP gnomAD v2 gnomAD v4 |
20 | g.1630213T= | CA2345733437 | SIRPG | c.*2+9A= (n.*2+9A=) n.227+9A= n.315+9A= | |
20 | g.1630214G>A | CA9729298 | SIRPG | c.*2+8C>T (n.*2+8C>T) n.227+8C>T n.315+8C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.1630214G= | CA2345733438 | SIRPG | c.*2+8C= (n.*2+8C=) n.227+8C= n.315+8C= | |
20 | g.1630214G>T | CA2651603991 | SIRPG | c.*2+8C>A (n.*2+8C>A) n.227+8C>A n.315+8C>A | gnomAD v4 |
20 | g.1630215T>C | CA2345733440 | SIRPG | c.*2+7A>G (n.*2+7A>G) n.227+7A>G n.315+7A>G | dbSNP gnomAD v4 |
20 | g.1630215T= | CA2345733439 | SIRPG | c.*2+7A= (n.*2+7A=) n.227+7A= n.315+7A= | |
20 | g.1630216A= | CA2345733441 | SIRPG | c.*2+6T= (n.*2+6T=) n.227+6T= n.315+6T= | |
20 | g.1630216A>G | CA634123390 | SIRPG | c.*2+6T>C (n.*2+6T>C) n.227+6T>C n.315+6T>C | dbSNP gnomAD v2 gnomAD v4 |
20 | g.1630216A>T | CA2651603992 | SIRPG | c.*2+6T>A (n.*2+6T>A) n.227+6T>A n.315+6T>A | gnomAD v4 |
20 | g.1630217C>A | CA2651603993 | SIRPG | c.*2+5G>T (n.*2+5G>T) n.227+5G>T n.315+5G>T | gnomAD v4 |
20 | g.1630217C>T | CA2577317964 | SIRPG | c.*2+5G>A (n.*2+5G>A) n.227+5G>A n.315+5G>A | gnomAD v4 |
20 | g.1630218T>A | CA2651603994 | SIRPG | c.*2+4A>T (n.*2+4A>T) n.227+4A>T n.315+4A>T | gnomAD v4 |
20 | g.1630219T>C | CA2651603995 | SIRPG | c.*2+3A>G (n.*2+3A>G) n.227+3A>G n.315+3A>G | gnomAD v4 |
20 | g.1630220A>C | CA2577317965 | SIRPG | c.*2+2T>G (n.*2+2T>G) n.227+2T>G n.315+2T>G | |
20 | g.1630220A>G | CA2651603996 | SIRPG | c.*2+2T>C (n.*2+2T>C) n.227+2T>C n.315+2T>C | gnomAD v4 |
20 | g.1630221_1630222del | CA2651603997 | SIRPG | c.*2+1_*2+2del n.227+1_227+2del n.315+1_315+2del | gnomAD v4 |
20 | g.1630221C>A | CA2651603998 | SIRPG | c.*2+1G>T (n.*2+1G>T) n.227+1G>T n.315+1G>T | gnomAD v4 |
20 | g.1630221C>T | CA2651603999 | SIRPG | c.*2+1G>A (n.*2+1G>A) n.227+1G>A n.315+1G>A | gnomAD v4 |
20 | g.1630222A>C | CA2651604000 | SIRPG | c.*2T>G (n.*2T>G) n.227T>G n.315T>G | gnomAD v4 |
20 | g.1630222A>G | CA2577317966 | SIRPG | c.*2T>C (n.*2T>C) n.227T>C n.315T>C | gnomAD v4 |
20 | g.1630223G>A | CA2651604001 | SIRPG | c.*1C>T (n.*1C>T) n.226C>T n.314C>T | gnomAD v4 |
20 | g.1630223G>C | CA2651604002 | SIRPG | c.*1C>G (n.*1C>G) n.226C>G n.314C>G | gnomAD v4 |
20 | g.1630223G>T | CA2651604003 | SIRPG | c.*1C>A (n.*1C>A) n.226C>A n.314C>A | gnomAD v4 |
20 | g.1630224T>A | CA407998405 | SIRPG | c.831A>T (p.Ter277Cys) c.1164A>T (p.Ter388Cys) c.513A>T (p.Ter171Cys) c.1065A>T (p.Ter355Cys) n.225A>T n.313A>T c.846A>T (p.Ter282Cys) | gnomAD v4 |
20 | g.1630224T>C | CA407998403 | SIRPG | c.831A>G (p.Ter277Trp) c.1164A>G (p.Ter388Trp) c.513A>G (p.Ter171Trp) c.1065A>G (p.Ter355Trp) n.225A>G n.313A>G c.846A>G (p.Ter282Trp) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.1630224T>G | CA407998404 | SIRPG | c.831A>C (p.Ter277Cys) c.1164A>C (p.Ter388Cys) c.513A>C (p.Ter171Cys) c.1065A>C (p.Ter355Cys) n.225A>C n.313A>C c.846A>C (p.Ter282Cys) | |
20 | g.1630224T= | CA2345733442 | SIRPG | c.831A= (p.Ter277=) c.1164A= (p.Ter388=) c.513A= (p.Ter171=) c.1065A= (p.Ter355=) n.225A= n.313A= c.846A= (p.Ter282=) | |
20 | g.1630225C>A | CA310791083 | SIRPG | c.830G>T (p.Ter277Leu) c.1163G>T (p.Ter388Leu) c.512G>T (p.Ter171Leu) c.1064G>T (p.Ter355Leu) n.224G>T n.312G>T c.845G>T (p.Ter282Leu) | dbSNP gnomAD v4 |
20 | g.1630225C= | CA2345733443 | SIRPG | c.830G= (p.Ter277=) c.1163G= (p.Ter388=) c.512G= (p.Ter171=) c.1064G= (p.Ter355=) n.224G= n.312G= c.845G= (p.Ter282=) | |
20 | g.1630225C>G | CA407998406 | SIRPG | c.830G>C (p.Ter277Ser) c.1163G>C (p.Ter388Ser) c.512G>C (p.Ter171Ser) c.1064G>C (p.Ter355Ser) n.224G>C n.312G>C c.845G>C (p.Ter282Ser) | gnomAD v4 |
20 | g.1630225C>T | CA509367563 | SIRPG | c.830G>A (p.Ter277=) c.1163G>A (p.Ter388=) c.512G>A (p.Ter171=) c.1064G>A (p.Ter355=) n.224G>A n.312G>A c.845G>A (p.Ter282=) | gnomAD v4 |
20 | g.1630226A>C | CA407998407 | SIRPG | c.829T>G (p.Ter277Gly) c.1162T>G (p.Ter388Gly) c.511T>G (p.Ter171Gly) c.1063T>G (p.Ter355Gly) n.223T>G n.311T>G c.844T>G (p.Ter282Gly) | |
20 | g.1630226A>G | CA407998408 | SIRPG | c.829T>C (p.Ter277Arg) c.1162T>C (p.Ter388Arg) c.511T>C (p.Ter171Arg) c.1063T>C (p.Ter355Arg) n.223T>C n.311T>C c.844T>C (p.Ter282Arg) | gnomAD v4 |
20 | g.1630226A>T | CA407998409 | SIRPG | c.829T>A (p.Ter277Arg) c.1162T>A (p.Ter388Arg) c.511T>A (p.Ter171Arg) c.1063T>A (p.Ter355Arg) n.223T>A n.311T>A c.844T>A (p.Ter282Arg) | |
20 | g.1630227G>A | CA9729299 | SIRPG | c.828C>T (p.Thr276=) c.1161C>T (p.Thr387=) c.510C>T (p.Thr170=) c.1062C>T (p.Thr354=) n.222C>T n.310C>T c.843C>T (p.Thr281=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.1630227G>C | CA509367564 | SIRPG | c.828C>G (p.Thr276=) c.1161C>G (p.Thr387=) c.510C>G (p.Thr170=) c.1062C>G (p.Thr354=) n.222C>G n.310C>G c.843C>G (p.Thr281=) | dbSNP |
20 | g.1630227G= | CA2345733444 | SIRPG | c.828C= (p.Thr276=) c.1161C= (p.Thr387=) c.510C= (p.Thr170=) c.1062C= (p.Thr354=) n.222C= n.310C= c.843C= (p.Thr281=) | |
20 | g.1630227G>T | CA509367565 | SIRPG | c.828C>A (p.Thr276=) c.1161C>A (p.Thr387=) c.510C>A (p.Thr170=) c.1062C>A (p.Thr354=) n.222C>A n.310C>A c.843C>A (p.Thr281=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.1630228G>A | CA407998410 | SIRPG | c.827C>T (p.Thr276Ile) c.1160C>T (p.Thr387Ile) c.509C>T (p.Thr170Ile) c.1061C>T (p.Thr354Ile) n.221C>T n.309C>T c.842C>T (p.Thr281Ile) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.1630228G>C | CA407998411 | SIRPG | c.827C>G (p.Thr276Ser) c.1160C>G (p.Thr387Ser) c.509C>G (p.Thr170Ser) c.1061C>G (p.Thr354Ser) n.221C>G n.309C>G c.842C>G (p.Thr281Ser) | |
20 | g.1630228G= | CA2345733445 | SIRPG | c.827C= (p.Thr276=) c.1160C= (p.Thr387=) c.509C= (p.Thr170=) c.1061C= (p.Thr354=) n.221C= n.309C= c.842C= (p.Thr281=) | |
20 | g.1630228G>T | CA407998412 | SIRPG | c.827C>A (p.Thr276Asn) c.1160C>A (p.Thr387Asn) c.509C>A (p.Thr170Asn) c.1061C>A (p.Thr354Asn) n.221C>A n.309C>A c.842C>A (p.Thr281Asn) | gnomAD v4 |
20 | g.1630229T>A | CA407998413 | SIRPG | c.826A>T (p.Thr276Ser) c.1159A>T (p.Thr387Ser) c.508A>T (p.Thr170Ser) c.1060A>T (p.Thr354Ser) n.220A>T n.308A>T c.841A>T (p.Thr281Ser) | |
20 | g.1630229T>C | CA407998414 | SIRPG | c.826A>G (p.Thr276Ala) c.1159A>G (p.Thr387Ala) c.508A>G (p.Thr170Ala) c.1060A>G (p.Thr354Ala) n.220A>G n.308A>G c.841A>G (p.Thr281Ala) | gnomAD v4 |
20 | g.1630229T>G | CA407998415 | SIRPG | c.826A>C (p.Thr276Pro) c.1159A>C (p.Thr387Pro) c.508A>C (p.Thr170Pro) c.1060A>C (p.Thr354Pro) n.220A>C n.308A>C c.841A>C (p.Thr281Pro) | gnomAD v4 |
20 | g.1630230C>A | CA407998416 | SIRPG | c.825G>T (p.Lys275Asn) c.1158G>T (p.Lys386Asn) c.507G>T (p.Lys169Asn) c.1059G>T (p.Lys353Asn) n.219G>T n.307G>T c.840G>T (p.Lys280Asn) | gnomAD v4 |
20 | g.1630230C= | CA2345733446 | SIRPG | c.825G= (p.Lys275=) c.1158G= (p.Lys386=) c.507G= (p.Lys169=) c.1059G= (p.Lys353=) n.219G= n.307G= c.840G= (p.Lys280=) | |
20 | g.1630230C>G | CA407998417 | SIRPG | c.825G>C (p.Lys275Asn) c.1158G>C (p.Lys386Asn) c.507G>C (p.Lys169Asn) c.1059G>C (p.Lys353Asn) n.219G>C n.307G>C c.840G>C (p.Lys280Asn) | |
20 | g.1630230C>T | CA509367566 | SIRPG | c.825G>A (p.Lys275=) c.1158G>A (p.Lys386=) c.507G>A (p.Lys169=) c.1059G>A (p.Lys353=) n.219G>A n.307G>A c.840G>A (p.Lys280=) | dbSNP |
20 | g.1630231T>A | CA407998418 | SIRPG | c.824A>T (p.Lys275Met) c.1157A>T (p.Lys386Met) c.506A>T (p.Lys169Met) c.1058A>T (p.Lys353Met) n.218A>T n.306A>T c.839A>T (p.Lys280Met) | |
20 | g.1630231T>C | CA407998419 | SIRPG | c.824A>G (p.Lys275Arg) c.1157A>G (p.Lys386Arg) c.506A>G (p.Lys169Arg) c.1058A>G (p.Lys353Arg) n.218A>G n.306A>G c.839A>G (p.Lys280Arg) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.1630231T>G | CA407998420 | SIRPG | c.824A>C (p.Lys275Thr) c.1157A>C (p.Lys386Thr) c.506A>C (p.Lys169Thr) c.1058A>C (p.Lys353Thr) n.218A>C n.306A>C c.839A>C (p.Lys280Thr) | gnomAD v4 |
20 | g.1630231T= | CA2345733447 | SIRPG | c.824A= (p.Lys275=) c.1157A= (p.Lys386=) c.506A= (p.Lys169=) c.1058A= (p.Lys353=) n.218A= n.306A= c.839A= (p.Lys280=) | |
20 | g.1630232T>A | CA407998421 | SIRPG | c.823A>T (p.Lys275Ter) c.1156A>T (p.Lys386Ter) c.505A>T (p.Lys169Ter) c.1057A>T (p.Lys353Ter) n.217A>T n.305A>T c.838A>T (p.Lys280Ter) | gnomAD v4 |
20 | g.1630232T>C | CA407998422 | SIRPG | c.823A>G (p.Lys275Glu) c.1156A>G (p.Lys386Glu) c.505A>G (p.Lys169Glu) c.1057A>G (p.Lys353Glu) n.217A>G n.305A>G c.838A>G (p.Lys280Glu) | |
20 | g.1630232T>G | CA407998423 | SIRPG | c.823A>C (p.Lys275Gln) c.1156A>C (p.Lys386Gln) c.505A>C (p.Lys169Gln) c.1057A>C (p.Lys353Gln) n.217A>C n.305A>C c.838A>C (p.Lys280Gln) | |
20 | g.1630233C>A | CA407998424 | SIRPG | c.822G>T (p.Gln274His) c.1155G>T (p.Gln385His) c.504G>T (p.Gln168His) c.1056G>T (p.Gln352His) n.216G>T n.304G>T c.837G>T (p.Gln279His) | gnomAD v4 |
20 | g.1630233C>G | CA407998425 | SIRPG | c.822G>C (p.Gln274His) c.1155G>C (p.Gln385His) c.504G>C (p.Gln168His) c.1056G>C (p.Gln352His) n.216G>C n.304G>C c.837G>C (p.Gln279His) | |
20 | g.1630233C>T | CA509367567 | SIRPG | c.822G>A (p.Gln274=) c.1155G>A (p.Gln385=) c.504G>A (p.Gln168=) c.1056G>A (p.Gln352=) n.216G>A n.304G>A c.837G>A (p.Gln279=) | gnomAD v4 |
20 | g.1630234T>A | CA407998426 | SIRPG | c.821A>T (p.Gln274Leu) c.1154A>T (p.Gln385Leu) c.503A>T (p.Gln168Leu) c.1055A>T (p.Gln352Leu) n.215A>T n.303A>T c.836A>T (p.Gln279Leu) | |
20 | g.1630234T>C | CA407998427 | SIRPG | c.821A>G (p.Gln274Arg) c.1154A>G (p.Gln385Arg) c.503A>G (p.Gln168Arg) c.1055A>G (p.Gln352Arg) n.215A>G n.303A>G c.836A>G (p.Gln279Arg) | gnomAD v4 |
20 | g.1630234T>G | CA407998428 | SIRPG | c.821A>C (p.Gln274Pro) c.1154A>C (p.Gln385Pro) c.503A>C (p.Gln168Pro) c.1055A>C (p.Gln352Pro) n.215A>C n.303A>C c.836A>C (p.Gln279Pro) | |
20 | g.1630235del | CA2651604004 | SIRPG | c.820del (p.Gln274ArgfsTer?) c.1153del (p.Gln385ArgfsTer?) c.502del (p.Gln168ArgfsTer?) c.1054del (p.Gln352ArgfsTer?) n.214del n.302del c.835del (p.Gln279ArgfsTer?) | gnomAD v4 |
20 | g.1630235G>A | CA407998430 | SIRPG | c.820C>T (p.Gln274Ter) c.1153C>T (p.Gln385Ter) c.502C>T (p.Gln168Ter) c.1054C>T (p.Gln352Ter) n.214C>T n.302C>T c.835C>T (p.Gln279Ter) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.1630235G>C | CA407998429 | SIRPG | c.820C>G (p.Gln274Glu) c.1153C>G (p.Gln385Glu) c.502C>G (p.Gln168Glu) c.1054C>G (p.Gln352Glu) n.214C>G n.302C>G c.835C>G (p.Gln279Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.1630235G= | CA2345733448 | SIRPG | c.820C= (p.Gln274=) c.1153C= (p.Gln385=) c.502C= (p.Gln168=) c.1054C= (p.Gln352=) n.214C= n.302C= c.835C= (p.Gln279=) | |
20 | g.1630235G>T | CA9729300 | SIRPG | c.820C>A (p.Gln274Lys) c.1153C>A (p.Gln385Lys) c.502C>A (p.Gln168Lys) c.1054C>A (p.Gln352Lys) n.214C>A n.302C>A c.835C>A (p.Gln279Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.1630236C>A | CA9729302 | SIRPG | c.819G>T (p.Lys273Asn) c.1152G>T (p.Lys384Asn) c.501G>T (p.Lys167Asn) c.1053G>T (p.Lys351Asn) n.213G>T n.301G>T c.834G>T (p.Lys278Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.1630236C= | CA2345733449 | SIRPG | c.819G= (p.Lys273=) c.1152G= (p.Lys384=) c.501G= (p.Lys167=) c.1053G= (p.Lys351=) n.213G= n.301G= c.834G= (p.Lys278=) | |
20 | g.1630236C>G | CA407998431 | SIRPG | c.819G>C (p.Lys273Asn) c.1152G>C (p.Lys384Asn) c.501G>C (p.Lys167Asn) c.1053G>C (p.Lys351Asn) n.213G>C n.301G>C c.834G>C (p.Lys278Asn) | |
20 | g.1630236C>T | CA9729301 | SIRPG | c.819G>A (p.Lys273=) c.1152G>A (p.Lys384=) c.501G>A (p.Lys167=) c.1053G>A (p.Lys351=) n.213G>A n.301G>A c.834G>A (p.Lys278=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.1630237T>A | CA407998432 | SIRPG | c.818A>T (p.Lys273Met) c.1151A>T (p.Lys384Met) c.500A>T (p.Lys167Met) c.1052A>T (p.Lys351Met) n.212A>T n.300A>T c.833A>T (p.Lys278Met) | gnomAD v4 |
20 | g.1630237T>C | CA9729303 | SIRPG | c.818A>G (p.Lys273Arg) c.1151A>G (p.Lys384Arg) c.500A>G (p.Lys167Arg) c.1052A>G (p.Lys351Arg) n.212A>G n.300A>G c.833A>G (p.Lys278Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.1630237T>G | CA407998433 | SIRPG | c.818A>C (p.Lys273Thr) c.1151A>C (p.Lys384Thr) c.500A>C (p.Lys167Thr) c.1052A>C (p.Lys351Thr) n.212A>C n.300A>C c.833A>C (p.Lys278Thr) | |
20 | g.1630237T= | CA2345733450 | SIRPG | c.818A= (p.Lys273=) c.1151A= (p.Lys384=) c.500A= (p.Lys167=) c.1052A= (p.Lys351=) n.212A= n.300A= c.833A= (p.Lys278=) | |
20 | g.1630238T>A | CA407998434 | SIRPG | c.817A>T (p.Lys273Ter) c.1150A>T (p.Lys384Ter) c.499A>T (p.Lys167Ter) c.1051A>T (p.Lys351Ter) n.211A>T n.299A>T c.832A>T (p.Lys278Ter) | |
20 | g.1630238T>C | CA407998435 | SIRPG | c.817A>G (p.Lys273Glu) c.1150A>G (p.Lys384Glu) c.499A>G (p.Lys167Glu) c.1051A>G (p.Lys351Glu) n.211A>G n.299A>G c.832A>G (p.Lys278Glu) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.1630238T>G | CA407998436 | SIRPG | c.817A>C (p.Lys273Gln) c.1150A>C (p.Lys384Gln) c.499A>C (p.Lys167Gln) c.1051A>C (p.Lys351Gln) n.211A>C n.299A>C c.832A>C (p.Lys278Gln) | |
20 | g.1630238T= | CA2345733451 | SIRPG | c.817A= (p.Lys273=) c.1150A= (p.Lys384=) c.499A= (p.Lys167=) c.1051A= (p.Lys351=) n.211A= n.299A= c.832A= (p.Lys278=) | |
20 | g.1630239C>A | CA407998437 | SIRPG | c.816G>T (p.Trp272Cys) c.1149G>T (p.Trp383Cys) c.498G>T (p.Trp166Cys) c.1050G>T (p.Trp350Cys) n.210G>T n.298G>T c.831G>T (p.Trp277Cys) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.1630239C= | CA2345733452 | SIRPG | c.816G= (p.Trp272=) c.1149G= (p.Trp383=) c.498G= (p.Trp166=) c.1050G= (p.Trp350=) n.210G= n.298G= c.831G= (p.Trp277=) | |
20 | g.1630239C>G | CA407998438 | SIRPG | c.816G>C (p.Trp272Cys) c.1149G>C (p.Trp383Cys) c.498G>C (p.Trp166Cys) c.1050G>C (p.Trp350Cys) n.210G>C n.298G>C c.831G>C (p.Trp277Cys) | gnomAD v4 |
20 | g.1630239C>T | CA407998439 | SIRPG | c.816G>A (p.Trp272Ter) c.1149G>A (p.Trp383Ter) c.498G>A (p.Trp166Ter) c.1050G>A (p.Trp350Ter) n.210G>A n.298G>A c.831G>A (p.Trp277Ter) | gnomAD v4 |
20 | g.1630240del | CA2651604005 | SIRPG | c.816del (p.Trp272Ter) c.1149del (p.Trp383Ter) c.498del (p.Trp166Ter) c.1050del (p.Trp350Ter) n.210del n.298del c.831del (p.Trp277Ter) | gnomAD v4 |
20 | g.1630240C>A | CA407998442 | SIRPG | c.815G>T (p.Trp272Leu) c.1148G>T (p.Trp383Leu) c.497G>T (p.Trp166Leu) c.1049G>T (p.Trp350Leu) n.209G>T n.297G>T c.830G>T (p.Trp277Leu) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.1630240C= | CA2345733453 | SIRPG | c.815G= (p.Trp272=) c.1148G= (p.Trp383=) c.497G= (p.Trp166=) c.1049G= (p.Trp350=) n.209G= n.297G= c.830G= (p.Trp277=) | |
20 | g.1630240C>G | CA407998441 | SIRPG | c.815G>C (p.Trp272Ser) c.1148G>C (p.Trp383Ser) c.497G>C (p.Trp166Ser) c.1049G>C (p.Trp350Ser) n.209G>C n.297G>C c.830G>C (p.Trp277Ser) | gnomAD v4 |
20 | g.1630240C>T | CA407998440 | SIRPG | c.815G>A (p.Trp272Ter) c.1148G>A (p.Trp383Ter) c.497G>A (p.Trp166Ter) c.1049G>A (p.Trp350Ter) n.209G>A n.297G>A c.830G>A (p.Trp277Ter) | gnomAD v4 |
20 | g.1630241A= | CA2345733454 | SIRPG | c.814T= (p.Trp272=) c.1147T= (p.Trp383=) c.496T= (p.Trp166=) c.1048T= (p.Trp350=) n.208T= n.296T= c.829T= (p.Trp277=) | |
20 | g.1630241A>C | CA407998443 | SIRPG | c.814T>G (p.Trp272Gly) c.1147T>G (p.Trp383Gly) c.496T>G (p.Trp166Gly) c.1048T>G (p.Trp350Gly) n.208T>G n.296T>G c.829T>G (p.Trp277Gly) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.1630241A>G | CA407998445 | SIRPG | c.814T>C (p.Trp272Arg) c.1147T>C (p.Trp383Arg) c.496T>C (p.Trp166Arg) c.1048T>C (p.Trp350Arg) n.208T>C n.296T>C c.829T>C (p.Trp277Arg) | gnomAD v4 |
20 | g.1630241A>T | CA407998444 | SIRPG | c.814T>A (p.Trp272Arg) c.1147T>A (p.Trp383Arg) c.496T>A (p.Trp166Arg) c.1048T>A (p.Trp350Arg) n.208T>A n.296T>A c.829T>A (p.Trp277Arg) | gnomAD v4 |
20 | g.1630242G>A | CA509367568 | SIRPG | c.813C>T (p.Pro271=) c.1146C>T (p.Pro382=) c.495C>T (p.Pro165=) c.1047C>T (p.Pro349=) n.207C>T n.295C>T c.828C>T (p.Pro276=) | |
20 | g.1630242G>C | CA509367569 | SIRPG | c.813C>G (p.Pro271=) c.1146C>G (p.Pro382=) c.495C>G (p.Pro165=) c.1047C>G (p.Pro349=) n.207C>G n.295C>G c.828C>G (p.Pro276=) | |
20 | g.1630242G>T | CA509367570 | SIRPG | c.813C>A (p.Pro271=) c.1146C>A (p.Pro382=) c.495C>A (p.Pro165=) c.1047C>A (p.Pro349=) n.207C>A n.295C>A c.828C>A (p.Pro276=) | gnomAD v4 |
20 | g.1630245del | CA2651604006 | SIRPG | c.813del (p.Trp272GlyfsTer?) c.1146del (p.Trp383GlyfsTer?) c.495del (p.Trp166GlyfsTer?) c.1047del (p.Trp350GlyfsTer?) n.207del n.295del c.828del (p.Trp277GlyfsTer?) | gnomAD v4 |
20 | g.1630243G>A | CA407998446 | SIRPG | c.812C>T (p.Pro271Leu) c.1145C>T (p.Pro382Leu) c.494C>T (p.Pro165Leu) c.1046C>T (p.Pro349Leu) n.206C>T n.294C>T c.827C>T (p.Pro276Leu) | gnomAD v4 |
20 | g.1630243G>C | CA407998447 | SIRPG | c.812C>G (p.Pro271Arg) c.1145C>G (p.Pro382Arg) c.494C>G (p.Pro165Arg) c.1046C>G (p.Pro349Arg) n.206C>G n.294C>G c.827C>G (p.Pro276Arg) | |
20 | g.1630243G>T | CA407998448 | SIRPG | c.812C>A (p.Pro271His) c.1145C>A (p.Pro382His) c.494C>A (p.Pro165His) c.1046C>A (p.Pro349His) n.206C>A n.294C>A c.827C>A (p.Pro276His) | gnomAD v4 |
20 | g.1630244G>A | CA407998449 | SIRPG | c.811C>T (p.Pro271Ser) c.1144C>T (p.Pro382Ser) c.493C>T (p.Pro165Ser) c.1045C>T (p.Pro349Ser) n.205C>T n.293C>T c.826C>T (p.Pro276Ser) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.1630244G>C | CA407998450 | SIRPG | c.811C>G (p.Pro271Ala) c.1144C>G (p.Pro382Ala) c.493C>G (p.Pro165Ala) c.1045C>G (p.Pro349Ala) n.205C>G n.293C>G c.826C>G (p.Pro276Ala) | |
20 | g.1630244G>T | CA407998451 | SIRPG | c.811C>A (p.Pro271Thr) c.1144C>A (p.Pro382Thr) c.493C>A (p.Pro165Thr) c.1045C>A (p.Pro349Thr) n.205C>A n.293C>A c.826C>A (p.Pro276Thr) | gnomAD v4 |
20 | g.1630245G>A | CA509367571 | SIRPG | c.810C>T (p.Val270=) c.1143C>T (p.Val381=) c.492C>T (p.Val164=) c.1044C>T (p.Val348=) n.204C>T n.292C>T c.825C>T (p.Val275=) | dbSNP gnomAD v4 |
20 | g.1630245G>C | CA509367572 | SIRPG | c.810C>G (p.Val270=) c.1143C>G (p.Val381=) c.492C>G (p.Val164=) c.1044C>G (p.Val348=) n.204C>G n.292C>G c.825C>G (p.Val275=) | |
20 | g.1630245G>T | CA509367573 | SIRPG | c.810C>A (p.Val270=) c.1143C>A (p.Val381=) c.492C>A (p.Val164=) c.1044C>A (p.Val348=) n.204C>A n.292C>A c.825C>A (p.Val275=) | gnomAD v4 |
20 | g.1630246A>C | CA407998452 | SIRPG | c.809T>G (p.Val270Gly) c.1142T>G (p.Val381Gly) c.491T>G (p.Val164Gly) c.1043T>G (p.Val348Gly) n.203T>G n.291T>G c.824T>G (p.Val275Gly) | |
20 | g.1630246A>G | CA407998453 | SIRPG | c.809T>C (p.Val270Ala) c.1142T>C (p.Val381Ala) c.491T>C (p.Val164Ala) c.1043T>C (p.Val348Ala) n.203T>C n.291T>C c.824T>C (p.Val275Ala) | gnomAD v4 |
20 | g.1630246A>T | CA407998454 | SIRPG | c.809T>A (p.Val270Asp) c.1142T>A (p.Val381Asp) c.491T>A (p.Val164Asp) c.1043T>A (p.Val348Asp) n.203T>A n.291T>A c.824T>A (p.Val275Asp) | |
20 | g.1630247C>A | CA407998455 | SIRPG | c.808G>T (p.Val270Phe) c.1141G>T (p.Val381Phe) c.490G>T (p.Val164Phe) c.1042G>T (p.Val348Phe) n.202G>T n.290G>T c.823G>T (p.Val275Phe) | gnomAD v4 |
20 | g.1630247C= | CA2345733455 | SIRPG | c.808G= (p.Val270=) c.1141G= (p.Val381=) c.490G= (p.Val164=) c.1042G= (p.Val348=) n.202G= n.290G= c.823G= (p.Val275=) | |
20 | g.1630247C>G | CA407998456 | SIRPG | c.808G>C (p.Val270Leu) c.1141G>C (p.Val381Leu) c.490G>C (p.Val164Leu) c.1042G>C (p.Val348Leu) n.202G>C n.290G>C c.823G>C (p.Val275Leu) | gnomAD v4 |
20 | g.1630247C>T | CA9729304 | SIRPG | c.808G>A (p.Val270Ile) c.1141G>A (p.Val381Ile) c.490G>A (p.Val164Ile) c.1042G>A (p.Val348Ile) n.202G>A n.290G>A c.823G>A (p.Val275Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.1630248G>A | CA9729305 | SIRPG | c.807C>T (p.Tyr269=) c.1140C>T (p.Tyr380=) c.489C>T (p.Tyr163=) c.1041C>T (p.Tyr347=) n.201C>T n.289C>T c.822C>T (p.Tyr274=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.1630248G>C | CA407998457 | SIRPG | c.807C>G (p.Tyr269Ter) c.1140C>G (p.Tyr380Ter) c.489C>G (p.Tyr163Ter) c.1041C>G (p.Tyr347Ter) n.201C>G n.289C>G c.822C>G (p.Tyr274Ter) | |
20 | g.1630248G= | CA2345733456 | SIRPG | c.807C= (p.Tyr269=) c.1140C= (p.Tyr380=) c.489C= (p.Tyr163=) c.1041C= (p.Tyr347=) n.201C= n.289C= c.822C= (p.Tyr274=) | |
20 | g.1630248G>T | CA407998458 | SIRPG | c.807C>A (p.Tyr269Ter) c.1140C>A (p.Tyr380Ter) c.489C>A (p.Tyr163Ter) c.1041C>A (p.Tyr347Ter) n.201C>A n.289C>A c.822C>A (p.Tyr274Ter) | gnomAD v4 |
20 | g.1630249T>A | CA407998459 | SIRPG | c.806A>T (p.Tyr269Phe) c.1139A>T (p.Tyr380Phe) c.488A>T (p.Tyr163Phe) c.1040A>T (p.Tyr347Phe) n.200A>T n.288A>T c.821A>T (p.Tyr274Phe) | gnomAD v4 |
20 | g.1630249T>C | CA9729306 | SIRPG | c.806A>G (p.Tyr269Cys) c.1139A>G (p.Tyr380Cys) c.488A>G (p.Tyr163Cys) c.1040A>G (p.Tyr347Cys) n.200A>G n.288A>G c.821A>G (p.Tyr274Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.1630249T>G | CA407998460 | SIRPG | c.806A>C (p.Tyr269Ser) c.1139A>C (p.Tyr380Ser) c.488A>C (p.Tyr163Ser) c.1040A>C (p.Tyr347Ser) n.200A>C n.288A>C c.821A>C (p.Tyr274Ser) | gnomAD v4 |
20 | g.1630249T= | CA2345733457 | SIRPG | c.806A= (p.Tyr269=) c.1139A= (p.Tyr380=) c.488A= (p.Tyr163=) c.1040A= (p.Tyr347=) n.200A= n.288A= c.821A= (p.Tyr274=) | |
20 | g.1630250A= | CA2345733458 | SIRPG | c.805T= (p.Tyr269=) c.1138T= (p.Tyr380=) c.487T= (p.Tyr163=) c.1039T= (p.Tyr347=) n.199T= n.287T= c.820T= (p.Tyr274=) | |
20 | g.1630250A>C | CA407998461 | SIRPG | c.805T>G (p.Tyr269Asp) c.1138T>G (p.Tyr380Asp) c.487T>G (p.Tyr163Asp) c.1039T>G (p.Tyr347Asp) n.199T>G n.287T>G c.820T>G (p.Tyr274Asp) | |
20 | g.1630250A>G | CA9729307 | SIRPG | c.805T>C (p.Tyr269His) c.1138T>C (p.Tyr380His) c.487T>C (p.Tyr163His) c.1039T>C (p.Tyr347His) n.199T>C n.287T>C c.820T>C (p.Tyr274His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.1630250A>T | CA407998462 | SIRPG | c.805T>A (p.Tyr269Asn) c.1138T>A (p.Tyr380Asn) c.487T>A (p.Tyr163Asn) c.1039T>A (p.Tyr347Asn) n.199T>A n.287T>A c.820T>A (p.Tyr274Asn) | gnomAD v4 |
20 | g.1630251G>A | CA509367574 | SIRPG | c.804C>T (p.Ile268=) c.1137C>T (p.Ile379=) c.486C>T (p.Ile162=) c.1038C>T (p.Ile346=) n.198C>T n.286C>T c.819C>T (p.Ile273=) | gnomAD v4 COSMIC |
20 | g.1630251G>C | CA407998463 | SIRPG | c.804C>G (p.Ile268Met) c.1137C>G (p.Ile379Met) c.486C>G (p.Ile162Met) c.1038C>G (p.Ile346Met) n.198C>G n.286C>G c.819C>G (p.Ile273Met) | |
20 | g.1630251G>T | CA509367575 | SIRPG | c.804C>A (p.Ile268=) c.1137C>A (p.Ile379=) c.486C>A (p.Ile162=) c.1038C>A (p.Ile346=) n.198C>A n.286C>A c.819C>A (p.Ile273=) | gnomAD v4 |
20 | g.1630252A>C | CA407998464 | SIRPG | c.803T>G (p.Ile268Ser) c.1136T>G (p.Ile379Ser) c.485T>G (p.Ile162Ser) c.1037T>G (p.Ile346Ser) n.197T>G n.285T>G c.818T>G (p.Ile273Ser) | |
20 | g.1630252A>G | CA407998465 | SIRPG | c.803T>C (p.Ile268Thr) c.1136T>C (p.Ile379Thr) c.485T>C (p.Ile162Thr) c.1037T>C (p.Ile346Thr) n.197T>C n.285T>C c.818T>C (p.Ile273Thr) | gnomAD v4 |
20 | g.1630252A>T | CA407998466 | SIRPG | c.803T>A (p.Ile268Asn) c.1136T>A (p.Ile379Asn) c.485T>A (p.Ile162Asn) c.1037T>A (p.Ile346Asn) n.197T>A n.285T>A c.818T>A (p.Ile273Asn) | gnomAD v4 |
20 | g.1630253T>A | CA407998469 | SIRPG | c.802A>T (p.Ile268Phe) c.1135A>T (p.Ile379Phe) c.484A>T (p.Ile162Phe) c.1036A>T (p.Ile346Phe) n.196A>T n.284A>T c.817A>T (p.Ile273Phe) | gnomAD v4 |
20 | g.1630253T>C | CA407998468 | SIRPG | c.802A>G (p.Ile268Val) c.1135A>G (p.Ile379Val) c.484A>G (p.Ile162Val) c.1036A>G (p.Ile346Val) n.196A>G n.284A>G c.817A>G (p.Ile273Val) | gnomAD v4 |
20 | g.1630253T>G | CA407998467 | SIRPG | c.802A>C (p.Ile268Leu) c.1135A>C (p.Ile379Leu) c.484A>C (p.Ile162Leu) c.1036A>C (p.Ile346Leu) n.196A>C n.284A>C c.817A>C (p.Ile273Leu) | |
20 | g.1630254G>A | CA509367576 | SIRPG | c.801C>T (p.Pro267=) c.1134C>T (p.Pro378=) c.483C>T (p.Pro161=) c.1035C>T (p.Pro345=) n.195C>T n.283C>T c.816C>T (p.Pro272=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.1630254G>C | CA509367578 | SIRPG | c.801C>G (p.Pro267=) c.1134C>G (p.Pro378=) c.483C>G (p.Pro161=) c.1035C>G (p.Pro345=) n.195C>G n.283C>G c.816C>G (p.Pro272=) | |
20 | g.1630254G= | CA2345733459 | SIRPG | c.801C= (p.Pro267=) c.1134C= (p.Pro378=) c.483C= (p.Pro161=) c.1035C= (p.Pro345=) n.195C= n.283C= c.816C= (p.Pro272=) | |
20 | g.1630254G>T | CA509367577 | SIRPG | c.801C>A (p.Pro267=) c.1134C>A (p.Pro378=) c.483C>A (p.Pro161=) c.1035C>A (p.Pro345=) n.195C>A n.283C>A c.816C>A (p.Pro272=) | gnomAD v4 |
20 | g.1630257del | CA2577317967 | SIRPG | c.801del (p.Ile268SerfsTer?) c.1134del (p.Ile379SerfsTer?) c.483del (p.Ile162SerfsTer?) c.1035del (p.Ile346SerfsTer?) n.195del n.283del c.816del (p.Ile273SerfsTer?) | gnomAD v4 |
20 | g.1630255G>A | CA407998470 | SIRPG | c.800C>T (p.Pro267Leu) c.1133C>T (p.Pro378Leu) c.482C>T (p.Pro161Leu) c.1034C>T (p.Pro345Leu) n.194C>T n.282C>T c.815C>T (p.Pro272Leu) | gnomAD v4 |
20 | g.1630255G>C | CA407998471 | SIRPG | c.800C>G (p.Pro267Arg) c.1133C>G (p.Pro378Arg) c.482C>G (p.Pro161Arg) c.1034C>G (p.Pro345Arg) n.194C>G n.282C>G c.815C>G (p.Pro272Arg) | dbSNP |
20 | g.1630255G= | CA2345733460 | SIRPG | c.800C= (p.Pro267=) c.1133C= (p.Pro378=) c.482C= (p.Pro161=) c.1034C= (p.Pro345=) n.194C= n.282C= c.815C= (p.Pro272=) | |
20 | g.1630255G>T | CA310791171 | SIRPG | c.800C>A (p.Pro267His) c.1133C>A (p.Pro378His) c.482C>A (p.Pro161His) c.1034C>A (p.Pro345His) n.194C>A n.282C>A c.815C>A (p.Pro272His) | dbSNP gnomAD v4 |
20 | g.1630256G>A | CA407998472 | SIRPG | c.799C>T (p.Pro267Ser) c.1132C>T (p.Pro378Ser) c.481C>T (p.Pro161Ser) c.1033C>T (p.Pro345Ser) n.193C>T n.281C>T c.814C>T (p.Pro272Ser) | gnomAD v4 |
20 | g.1630256G>C | CA407998473 | SIRPG | c.799C>G (p.Pro267Ala) c.1132C>G (p.Pro378Ala) c.481C>G (p.Pro161Ala) c.1033C>G (p.Pro345Ala) n.193C>G n.281C>G c.814C>G (p.Pro272Ala) | gnomAD v4 |
20 | g.1630256G>T | CA407998474 | SIRPG | c.799C>A (p.Pro267Thr) c.1132C>A (p.Pro378Thr) c.481C>A (p.Pro161Thr) c.1033C>A (p.Pro345Thr) n.193C>A n.281C>A c.814C>A (p.Pro272Thr) | gnomAD v4 |
20 | g.1630257G>A | CA310791172 | SIRPG | c.798C>T (p.Gly266=) c.1131C>T (p.Gly377=) c.480C>T (p.Gly160=) c.1032C>T (p.Gly344=) n.192C>T n.280C>T c.813C>T (p.Gly271=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.1630257G>C | CA509367579 | SIRPG | c.798C>G (p.Gly266=) c.1131C>G (p.Gly377=) c.480C>G (p.Gly160=) c.1032C>G (p.Gly344=) n.192C>G n.280C>G c.813C>G (p.Gly271=) | |
20 | g.1630257G= | CA2345733461 | SIRPG | c.798C= (p.Gly266=) c.1131C= (p.Gly377=) c.480C= (p.Gly160=) c.1032C= (p.Gly344=) n.192C= n.280C= c.813C= (p.Gly271=) | |
20 | g.1630257G>T | CA509367580 | SIRPG | c.798C>A (p.Gly266=) c.1131C>A (p.Gly377=) c.480C>A (p.Gly160=) c.1032C>A (p.Gly344=) n.192C>A n.280C>A c.813C>A (p.Gly271=) | gnomAD v4 |
20 | g.1630258C>A | CA407998475 | SIRPG | c.797G>T (p.Gly266Val) c.1130G>T (p.Gly377Val) c.479G>T (p.Gly160Val) c.1031G>T (p.Gly344Val) n.191G>T n.279G>T c.812G>T (p.Gly271Val) | gnomAD v4 |
20 | g.1630258C>G | CA407998476 | SIRPG | c.797G>C (p.Gly266Ala) c.1130G>C (p.Gly377Ala) c.479G>C (p.Gly160Ala) c.1031G>C (p.Gly344Ala) n.191G>C n.279G>C c.812G>C (p.Gly271Ala) | gnomAD v4 |
20 | g.1630258C>T | CA407998477 | SIRPG | c.797G>A (p.Gly266Asp) c.1130G>A (p.Gly377Asp) c.479G>A (p.Gly160Asp) c.1031G>A (p.Gly344Asp) n.191G>A n.279G>A c.812G>A (p.Gly271Asp) | gnomAD v4 |
20 | g.1630259C>A | CA407998478 | SIRPG | c.796G>T (p.Gly266Cys) c.1129G>T (p.Gly377Cys) c.478G>T (p.Gly160Cys) c.1030G>T (p.Gly344Cys) n.190G>T n.278G>T c.811G>T (p.Gly271Cys) | gnomAD v4 |
20 | g.1630259C>G | CA407998479 | SIRPG | c.796G>C (p.Gly266Arg) c.1129G>C (p.Gly377Arg) c.478G>C (p.Gly160Arg) c.1030G>C (p.Gly344Arg) n.190G>C n.278G>C c.811G>C (p.Gly271Arg) | |
20 | g.1630259C>T | CA407998480 | SIRPG | c.796G>A (p.Gly266Ser) c.1129G>A (p.Gly377Ser) c.478G>A (p.Gly160Ser) c.1030G>A (p.Gly344Ser) n.190G>A n.278G>A c.811G>A (p.Gly271Ser) | gnomAD v4 |
20 | g.1630260C>A | CA509367581 | SIRPG | c.795G>T (p.Leu265=) c.1128G>T (p.Leu376=) c.477G>T (p.Leu159=) c.1029G>T (p.Leu343=) n.189G>T n.277G>T c.810G>T (p.Leu270=) | gnomAD v4 |
20 | g.1630260C>G | CA509367582 | SIRPG | c.795G>C (p.Leu265=) c.1128G>C (p.Leu376=) c.477G>C (p.Leu159=) c.1029G>C (p.Leu343=) n.189G>C n.277G>C c.810G>C (p.Leu270=) | |
20 | g.1630260C>T | CA509367583 | SIRPG | c.795G>A (p.Leu265=) c.1128G>A (p.Leu376=) c.477G>A (p.Leu159=) c.1029G>A (p.Leu343=) n.189G>A n.277G>A c.810G>A (p.Leu270=) | gnomAD v4 |