Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.62995985G>A | CA2574853401 | SLC22A8 | c.885+44C>T (n.885+44C>T) c.516+44C>T (n.516+44C>T) n.747C>T c.612+44C>T (n.612+44C>T) | |
11 | g.62995987G>A | CA6059801 | SLC22A8 | c.885+42C>T (n.885+42C>T) c.516+42C>T (n.516+42C>T) n.745C>T c.612+42C>T (n.612+42C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.62995987G>C | CA2614035264 | SLC22A8 | c.885+42C>G (n.885+42C>G) c.516+42C>G (n.516+42C>G) n.745C>G c.612+42C>G (n.612+42C>G) | gnomAD v4 |
11 | g.62995987G= | CA1978013105 | SLC22A8 | c.885+42C= (n.885+42C=) c.516+42C= (n.516+42C=) n.745C= c.612+42C= (n.612+42C=) | |
11 | g.62995988C= | CA1978013106 | SLC22A8 | c.885+41G= (n.885+41G=) c.516+41G= (n.516+41G=) n.744G= c.612+41G= (n.612+41G=) | |
11 | g.62995988C>T | CA6059802 | SLC22A8 | c.885+41G>A (n.885+41G>A) c.516+41G>A (n.516+41G>A) n.744G>A c.612+41G>A (n.612+41G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.62995989A= | CA1978013111 | SLC22A8 | c.885+40T= (n.885+40T=) c.516+40T= (n.516+40T=) n.743T= c.612+40T= (n.612+40T=) | |
11 | g.62995989A>T | CA223623742 | SLC22A8 | c.885+40T>A (n.885+40T>A) c.516+40T>A (n.516+40T>A) n.743T>A c.612+40T>A (n.612+40T>A) | dbSNP |
11 | g.62995990C= | CA1978013113 | SLC22A8 | c.885+39G= (n.885+39G=) c.516+39G= (n.516+39G=) n.742G= c.612+39G= (n.612+39G=) | |
11 | g.62995990C>G | CA2614035265 | SLC22A8 | c.885+39G>C (n.885+39G>C) c.516+39G>C (n.516+39G>C) n.742G>C c.612+39G>C (n.612+39G>C) | gnomAD v4 |
11 | g.62995990C>T | CA679094499 | SLC22A8 | c.885+39G>A (n.885+39G>A) c.516+39G>A (n.516+39G>A) n.742G>A c.612+39G>A (n.612+39G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.62995991A= | CA1978013115 | SLC22A8 | c.885+38T= (n.885+38T=) c.516+38T= (n.516+38T=) n.741T= c.612+38T= (n.612+38T=) | |
11 | g.62995991A>G | CA223623743 | SLC22A8 | c.885+38T>C (n.885+38T>C) c.516+38T>C (n.516+38T>C) n.741T>C c.612+38T>C (n.612+38T>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.62995992G>A | CA1978013119 | SLC22A8 | c.885+37C>T (n.885+37C>T) c.516+37C>T (n.516+37C>T) n.740C>T c.612+37C>T (n.612+37C>T) | dbSNP |
11 | g.62995992G= | CA1978013118 | SLC22A8 | c.885+37C= (n.885+37C=) c.516+37C= (n.516+37C=) n.740C= c.612+37C= (n.612+37C=) | |
11 | g.62995993G>A | CA2614035266 | SLC22A8 | c.885+36C>T (n.885+36C>T) c.516+36C>T (n.516+36C>T) n.739C>T c.612+36C>T (n.612+36C>T) | gnomAD v4 |
11 | g.62995994G>A | CA2614035267 | SLC22A8 | c.885+35C>T (n.885+35C>T) c.516+35C>T (n.516+35C>T) n.738C>T c.612+35C>T (n.612+35C>T) | gnomAD v4 |
11 | g.62995994G>C | CA599799181 | SLC22A8 | c.885+35C>G (n.885+35C>G) c.516+35C>G (n.516+35C>G) n.738C>G c.612+35C>G (n.612+35C>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.62995994G= | CA1978013120 | SLC22A8 | c.885+35C= (n.885+35C=) c.516+35C= (n.516+35C=) n.738C= c.612+35C= (n.612+35C=) | |
11 | g.62995994G>T | CA1978013122 | SLC22A8 | c.885+35C>A (n.885+35C>A) c.516+35C>A (n.516+35C>A) n.738C>A c.612+35C>A (n.612+35C>A) | dbSNP gnomAD v4 |
11 | g.62995995G>A | CA599799182 | SLC22A8 | c.885+34C>T (n.885+34C>T) c.516+34C>T (n.516+34C>T) n.737C>T c.612+34C>T (n.612+34C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.62995995G>C | CA2614035268 | SLC22A8 | c.885+34C>G (n.885+34C>G) c.516+34C>G (n.516+34C>G) n.737C>G c.612+34C>G (n.612+34C>G) | gnomAD v4 |
11 | g.62995995G= | CA1978013125 | SLC22A8 | c.885+34C= (n.885+34C=) c.516+34C= (n.516+34C=) n.737C= c.612+34C= (n.612+34C=) | |
11 | g.62995995G>T | CA223623744 | SLC22A8 | c.885+34C>A (n.885+34C>A) c.516+34C>A (n.516+34C>A) n.737C>A c.612+34C>A (n.612+34C>A) | dbSNP |
11 | g.62995996T>A | CA1978013132 | SLC22A8 | c.885+33A>T (n.885+33A>T) c.516+33A>T (n.516+33A>T) n.736A>T c.612+33A>T (n.612+33A>T) | dbSNP gnomAD v4 |
11 | g.62995996T>C | CA6059803 | SLC22A8 | c.885+33A>G (n.885+33A>G) c.516+33A>G (n.516+33A>G) n.736A>G c.612+33A>G (n.612+33A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.62995996T= | CA1978013130 | SLC22A8 | c.885+33A= (n.885+33A=) c.516+33A= (n.516+33A=) n.736A= c.612+33A= (n.612+33A=) | |
11 | g.62995999T>C | CA2614035269 | SLC22A8 | c.885+30A>G (n.885+30A>G) c.516+30A>G (n.516+30A>G) n.733A>G c.612+30A>G (n.612+30A>G) | gnomAD v4 |
11 | g.62996000G= | CA1978013134 | SLC22A8 | c.885+29C= (n.885+29C=) c.516+29C= (n.516+29C=) n.732C= c.612+29C= (n.612+29C=) | |
11 | g.62996000G>T | CA6059804 | SLC22A8 | c.885+29C>A (n.885+29C>A) c.516+29C>A (n.516+29C>A) n.732C>A c.612+29C>A (n.612+29C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.62996001C= | CA1978013138 | SLC22A8 | c.885+28G= (n.885+28G=) c.516+28G= (n.516+28G=) n.731G= c.612+28G= (n.612+28G=) | |
11 | g.62996001C>T | CA6059805 | SLC22A8 | c.885+28G>A (n.885+28G>A) c.516+28G>A (n.516+28G>A) n.731G>A c.612+28G>A (n.612+28G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.62996002T>C | CA6059806 | SLC22A8 | c.885+27A>G (n.885+27A>G) c.516+27A>G (n.516+27A>G) n.730A>G c.612+27A>G (n.612+27A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.62996002T= | CA1978013140 | SLC22A8 | c.885+27A= (n.885+27A=) c.516+27A= (n.516+27A=) n.730A= c.612+27A= (n.612+27A=) | |
11 | g.62996003C= | CA1978013143 | SLC22A8 | c.885+26G= (n.885+26G=) c.516+26G= (n.516+26G=) n.729G= c.612+26G= (n.612+26G=) | |
11 | g.62996003C>T | CA223623754 | SLC22A8 | c.885+26G>A (n.885+26G>A) c.516+26G>A (n.516+26G>A) n.729G>A c.612+26G>A (n.612+26G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.62996005C= | CA1978013145 | SLC22A8 | c.885+24G= (n.885+24G=) c.516+24G= (n.516+24G=) n.727G= c.612+24G= (n.612+24G=) | |
11 | g.62996005C>T | CA6059807 | SLC22A8 | c.885+24G>A (n.885+24G>A) c.516+24G>A (n.516+24G>A) n.727G>A c.612+24G>A (n.612+24G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.62996008A>G | CA2614035270 | SLC22A8 | c.885+21T>C (n.885+21T>C) c.516+21T>C (n.516+21T>C) n.724T>C c.612+21T>C (n.612+21T>C) | gnomAD v4 |
11 | g.62996008A>T | CA2614035271 | SLC22A8 | c.885+21T>A (n.885+21T>A) c.516+21T>A (n.516+21T>A) n.724T>A c.612+21T>A (n.612+21T>A) | gnomAD v4 |
11 | g.62996009C= | CA1978013147 | SLC22A8 | c.885+20G= (n.885+20G=) c.516+20G= (n.516+20G=) n.723G= c.612+20G= (n.612+20G=) | |
11 | g.62996009C>T | CA6059808 | SLC22A8 | c.885+20G>A (n.885+20G>A) c.516+20G>A (n.516+20G>A) n.723G>A c.612+20G>A (n.612+20G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.62996010T>C | CA223623773 | SLC22A8 | c.885+19A>G (n.885+19A>G) c.516+19A>G (n.516+19A>G) n.722A>G c.612+19A>G (n.612+19A>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.62996010T= | CA1978013149 | SLC22A8 | c.885+19A= (n.885+19A=) c.516+19A= (n.516+19A=) n.722A= c.612+19A= (n.612+19A=) | |
11 | g.62996011A= | CA1978013151 | SLC22A8 | c.885+18T= (n.885+18T=) c.516+18T= (n.516+18T=) n.721T= c.612+18T= (n.612+18T=) | |
11 | g.62996011A>G | CA6059809 | SLC22A8 | c.885+18T>C (n.885+18T>C) c.516+18T>C (n.516+18T>C) n.721T>C c.612+18T>C (n.612+18T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.62996012T>C | CA6059810 | SLC22A8 | c.885+17A>G (n.885+17A>G) c.516+17A>G (n.516+17A>G) n.720A>G c.612+17A>G (n.612+17A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.62996012T= | CA1978013153 | SLC22A8 | c.885+17A= (n.885+17A=) c.516+17A= (n.516+17A=) n.720A= c.612+17A= (n.612+17A=) | |
11 | g.62996013A>C | CA2614035272 | SLC22A8 | c.885+16T>G (n.885+16T>G) c.516+16T>G (n.516+16T>G) n.719T>G c.612+16T>G (n.612+16T>G) | gnomAD v4 |
11 | g.62996016C>A | CA6059811 | SLC22A8 | c.885+13G>T (n.885+13G>T) c.516+13G>T (n.516+13G>T) n.716G>T c.612+13G>T (n.612+13G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.62996016C= | CA1978013157 | SLC22A8 | c.885+13G= (n.885+13G=) c.516+13G= (n.516+13G=) n.716G= c.612+13G= (n.612+13G=) | |
11 | g.62996016C>G | CA1978013155 | SLC22A8 | c.885+13G>C (n.885+13G>C) c.516+13G>C (n.516+13G>C) n.716G>C c.612+13G>C (n.612+13G>C) | dbSNP |
11 | g.62996017C>G | CA2574853402 | SLC22A8 | c.885+12G>C (n.885+12G>C) c.516+12G>C (n.516+12G>C) n.715G>C c.612+12G>C (n.612+12G>C) | gnomAD v4 |
11 | g.62996018T>C | CA223623784 | SLC22A8 | c.885+11A>G (n.885+11A>G) c.516+11A>G (n.516+11A>G) n.714A>G c.612+11A>G (n.612+11A>G) | dbSNP |
11 | g.62996018T= | CA1978013158 | SLC22A8 | c.885+11A= (n.885+11A=) c.516+11A= (n.516+11A=) n.714A= c.612+11A= (n.612+11A=) | |
11 | g.62996019C>T | CA2568274974 | SLC22A8 | c.885+10G>A (n.885+10G>A) c.516+10G>A (n.516+10G>A) n.713G>A c.612+10G>A (n.612+10G>A) | gnomAD v4 |
11 | g.62996021G>A | CA2792364810 | SLC22A8 | c.885+8C>T (n.885+8C>T) c.516+8C>T (n.516+8C>T) n.711C>T c.612+8C>T (n.612+8C>T) | |
11 | g.62996022C>A | CA599799183 | SLC22A8 | c.885+7G>T (n.885+7G>T) c.516+7G>T (n.516+7G>T) n.710G>T c.612+7G>T (n.612+7G>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.62996022C= | CA1978013160 | SLC22A8 | c.885+7G= (n.885+7G=) c.516+7G= (n.516+7G=) n.710G= c.612+7G= (n.612+7G=) | |
11 | g.62996024C>A | CA6059812 | SLC22A8 | c.885+5G>T (n.885+5G>T) c.516+5G>T (n.516+5G>T) n.708G>T c.612+5G>T (n.612+5G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.62996024C= | CA1978013161 | SLC22A8 | c.885+5G= (n.885+5G=) c.516+5G= (n.516+5G=) n.708G= c.612+5G= (n.612+5G=) | |
11 | g.62996025C= | CA1978013164 | SLC22A8 | c.885+4G= (n.885+4G=) c.516+4G= (n.516+4G=) n.707G= c.612+4G= (n.612+4G=) | |
11 | g.62996025C>G | CA679094539 | SLC22A8 | c.885+4G>C (n.885+4G>C) c.516+4G>C (n.516+4G>C) n.707G>C c.612+4G>C (n.612+4G>C) | dbSNP |
11 | g.62996026T>A | CA679094540 | SLC22A8 | c.885+3A>T (n.885+3A>T) c.516+3A>T (n.516+3A>T) n.706A>T c.612+3A>T (n.612+3A>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.62996026T>G | CA2614035273 | SLC22A8 | c.885+3A>C (n.885+3A>C) c.516+3A>C (n.516+3A>C) n.706A>C c.612+3A>C (n.612+3A>C) | gnomAD v4 |
11 | g.62996026T= | CA1978013165 | SLC22A8 | c.885+3A= (n.885+3A=) c.516+3A= (n.516+3A=) n.706A= c.612+3A= (n.612+3A=) | |
11 | g.62996027A= | CA1978013168 | SLC22A8 | c.885+2T= (n.885+2T=) c.516+2T= (n.516+2T=) n.705T= c.612+2T= (n.612+2T=) | |
11 | g.62996027A>C | CA380982441 | SLC22A8 | c.885+2T>G (n.885+2T>G) c.516+2T>G (n.516+2T>G) n.705T>G c.612+2T>G (n.612+2T>G) | dbSNP |
11 | g.62996027A>G | CA380982443 | SLC22A8 | c.885+2T>C (n.885+2T>C) c.516+2T>C (n.516+2T>C) n.705T>C c.612+2T>C (n.612+2T>C) | |
11 | g.62996027A>T | CA380982440 | SLC22A8 | c.885+2T>A (n.885+2T>A) c.516+2T>A (n.516+2T>A) n.705T>A c.612+2T>A (n.612+2T>A) | |
11 | g.62996028C>A | CA380982445 | SLC22A8 | c.885+1G>T (n.885+1G>T) c.516+1G>T (n.516+1G>T) n.704G>T c.612+1G>T (n.612+1G>T) | gnomAD v4 |
11 | g.62996028C>G | CA380982447 | SLC22A8 | c.885+1G>C (n.885+1G>C) c.516+1G>C (n.516+1G>C) n.704G>C c.612+1G>C (n.612+1G>C) | |
11 | g.62996028C>T | CA380982448 | SLC22A8 | c.885+1G>A (n.885+1G>A) c.516+1G>A (n.516+1G>A) n.704G>A c.612+1G>A (n.612+1G>A) | |
11 | g.62996029C>A | CA380982449 | SLC22A8 | c.885G>T (p.Glu295Asp) c.516G>T (p.Glu172Asp) n.703G>T c.612G>T (p.Glu204Asp) | |
11 | g.62996029C>G | CA380982450 | SLC22A8 | c.885G>C (p.Glu295Asp) c.516G>C (p.Glu172Asp) n.703G>C c.612G>C (p.Glu204Asp) | |
11 | g.62996029C>T | CA475140786 | SLC22A8 | c.885G>A (p.Glu295=) c.516G>A (p.Glu172=) n.703G>A c.612G>A (p.Glu204=) | |
11 | g.62996030T>A | CA380982455 | SLC22A8 | c.884A>T (p.Glu295Val) c.515A>T (p.Glu172Val) n.702A>T c.611A>T (p.Glu204Val) | |
11 | g.62996030T>C | CA380982452 | SLC22A8 | c.884A>G (p.Glu295Gly) c.515A>G (p.Glu172Gly) n.702A>G c.611A>G (p.Glu204Gly) | |
11 | g.62996030T>G | CA380982453 | SLC22A8 | c.884A>C (p.Glu295Ala) c.515A>C (p.Glu172Ala) n.702A>C c.611A>C (p.Glu204Ala) | gnomAD v4 |
11 | g.62996031C>A | CA380982456 | SLC22A8 | c.883G>T (p.Glu295Ter) c.514G>T (p.Glu172Ter) n.701G>T c.610G>T (p.Glu204Ter) | |
11 | g.62996031C= | CA1978013171 | SLC22A8 | c.883G= (p.Glu295=) c.514G= (p.Glu172=) n.701G= c.610G= (p.Glu204=) | |
11 | g.62996031C>G | CA380982457 | SLC22A8 | c.883G>C (p.Glu295Gln) c.514G>C (p.Glu172Gln) n.701G>C c.610G>C (p.Glu204Gln) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.62996031C>T | CA6059813 | SLC22A8 | c.883G>A (p.Glu295Lys) c.514G>A (p.Glu172Lys) n.701G>A c.610G>A (p.Glu204Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.62996032C>A | CA380982459 | SLC22A8 | c.882G>T (p.Leu294Phe) c.513G>T (p.Leu171Phe) n.700G>T c.609G>T (p.Leu203Phe) | |
11 | g.62996032C>G | CA380982461 | SLC22A8 | c.882G>C (p.Leu294Phe) c.513G>C (p.Leu171Phe) n.700G>C c.609G>C (p.Leu203Phe) | |
11 | g.62996032C>T | CA475140787 | SLC22A8 | c.882G>A (p.Leu294=) c.513G>A (p.Leu171=) n.700G>A c.609G>A (p.Leu203=) | |
11 | g.62996033A>C | CA380982466 | SLC22A8 | c.881T>G (p.Leu294Trp) c.512T>G (p.Leu171Trp) n.699T>G c.608T>G (p.Leu203Trp) | |
11 | g.62996033A>G | CA380982464 | SLC22A8 | c.881T>C (p.Leu294Ser) c.512T>C (p.Leu171Ser) n.699T>C c.608T>C (p.Leu203Ser) | |
11 | g.62996033A>T | CA380982462 | SLC22A8 | c.881T>A (p.Leu294Ter) c.512T>A (p.Leu171Ter) n.699T>A c.608T>A (p.Leu203Ter) | |
11 | g.62996034A= | CA1978013175 | SLC22A8 | c.880T= (p.Leu294=) c.511T= (p.Leu171=) n.698T= c.607T= (p.Leu203=) | |
11 | g.62996034A>C | CA380982468 | SLC22A8 | c.880T>G (p.Leu294Val) c.511T>G (p.Leu171Val) n.698T>G c.607T>G (p.Leu203Val) | |
11 | g.62996034A>G | CA6059814 | SLC22A8 | c.880T>C (p.Leu294=) c.511T>C (p.Leu171=) n.698T>C c.607T>C (p.Leu203=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.62996034A>T | CA380982470 | SLC22A8 | c.880T>A (p.Leu294Met) c.511T>A (p.Leu171Met) n.698T>A c.607T>A (p.Leu203Met) | |
11 | g.62996035G>A | CA475140788 | SLC22A8 | c.879C>T (p.Ser293=) c.510C>T (p.Ser170=) n.697C>T c.606C>T (p.Ser202=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.62996035G>C | CA380982472 | SLC22A8 | c.879C>G (p.Ser293Arg) c.510C>G (p.Ser170Arg) n.697C>G c.606C>G (p.Ser202Arg) | |
11 | g.62996035G= | CA1978013177 | SLC22A8 | c.879C= (p.Ser293=) c.510C= (p.Ser170=) n.697C= c.606C= (p.Ser202=) | |
11 | g.62996035G>T | CA380982474 | SLC22A8 | c.879C>A (p.Ser293Arg) c.510C>A (p.Ser170Arg) n.697C>A c.606C>A (p.Ser202Arg) | |
11 | g.62996036C>A | CA380982476 | SLC22A8 | c.878G>T (p.Ser293Ile) c.509G>T (p.Ser170Ile) n.696G>T c.605G>T (p.Ser202Ile) | |
11 | g.62996036C= | CA1978013179 | SLC22A8 | c.878G= (p.Ser293=) c.509G= (p.Ser170=) n.696G= c.605G= (p.Ser202=) | |
11 | g.62996036C>G | CA380982478 | SLC22A8 | c.878G>C (p.Ser293Thr) c.509G>C (p.Ser170Thr) n.696G>C c.605G>C (p.Ser202Thr) | |
11 | g.62996036C>T | CA6059815 | SLC22A8 | c.878G>A (p.Ser293Asn) c.509G>A (p.Ser170Asn) n.696G>A c.605G>A (p.Ser202Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.62996037T>A | CA380982480 | SLC22A8 | c.877A>T (p.Ser293Cys) c.508A>T (p.Ser170Cys) n.695A>T c.604A>T (p.Ser202Cys) | |
11 | g.62996037T>C | CA380982482 | SLC22A8 | c.877A>G (p.Ser293Gly) c.508A>G (p.Ser170Gly) n.695A>G c.604A>G (p.Ser202Gly) | |
11 | g.62996037T>G | CA380982484 | SLC22A8 | c.877A>C (p.Ser293Arg) c.508A>C (p.Ser170Arg) n.695A>C c.604A>C (p.Ser202Arg) | |
11 | g.62996038G>A | CA475140789 | SLC22A8 | c.876C>T (p.Leu292=) c.507C>T (p.Leu169=) n.694C>T c.603C>T (p.Leu201=) | |
11 | g.62996038G>C | CA475140790 | SLC22A8 | c.876C>G (p.Leu292=) c.507C>G (p.Leu169=) n.694C>G c.603C>G (p.Leu201=) | |
11 | g.62996038G>T | CA475140791 | SLC22A8 | c.876C>A (p.Leu292=) c.507C>A (p.Leu169=) n.694C>A c.603C>A (p.Leu201=) | |
11 | g.62996039A>C | CA380982489 | SLC22A8 | c.875T>G (p.Leu292Arg) c.506T>G (p.Leu169Arg) n.693T>G c.602T>G (p.Leu201Arg) | |
11 | g.62996039A>G | CA380982486 | SLC22A8 | c.875T>C (p.Leu292Pro) c.506T>C (p.Leu169Pro) n.693T>C c.602T>C (p.Leu201Pro) | |
11 | g.62996039A>T | CA380982487 | SLC22A8 | c.875T>A (p.Leu292His) c.506T>A (p.Leu169His) n.693T>A c.602T>A (p.Leu201His) | |
11 | g.62996040G>A | CA380982491 | SLC22A8 | c.874C>T (p.Leu292Phe) c.505C>T (p.Leu169Phe) n.692C>T c.601C>T (p.Leu201Phe) | |
11 | g.62996040G>C | CA380982492 | SLC22A8 | c.874C>G (p.Leu292Val) c.505C>G (p.Leu169Val) n.692C>G c.601C>G (p.Leu201Val) | |
11 | g.62996040G= | CA1978013181 | SLC22A8 | c.874C= (p.Leu292=) c.505C= (p.Leu169=) n.692C= c.601C= (p.Leu201=) | |
11 | g.62996040G>T | CA6059816 | SLC22A8 | c.874C>A (p.Leu292Ile) c.505C>A (p.Leu169Ile) n.692C>A c.601C>A (p.Leu201Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.62996041C>A | CA223623839 | SLC22A8 | c.873G>T (p.Arg291Ser) c.504G>T (p.Arg168Ser) n.691G>T c.600G>T (p.Arg200Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.62996041C= | CA1978013183 | SLC22A8 | c.873G= (p.Arg291=) c.504G= (p.Arg168=) n.691G= c.600G= (p.Arg200=) | |
11 | g.62996041C>G | CA380982495 | SLC22A8 | c.873G>C (p.Arg291Ser) c.504G>C (p.Arg168Ser) n.691G>C c.600G>C (p.Arg200Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.62996041C>T | CA475140792 | SLC22A8 | c.873G>A (p.Arg291=) c.504G>A (p.Arg168=) n.691G>A c.600G>A (p.Arg200=) | |
11 | g.62996042C>A | CA380982499 | SLC22A8 | c.872G>T (p.Arg291Met) c.503G>T (p.Arg168Met) n.690G>T c.599G>T (p.Arg200Met) | |
11 | g.62996042C= | CA1978013185 | SLC22A8 | c.872G= (p.Arg291=) c.503G= (p.Arg168=) n.690G= c.599G= (p.Arg200=) | |
11 | g.62996042C>G | CA6059817 | SLC22A8 | c.872G>C (p.Arg291Thr) c.503G>C (p.Arg168Thr) n.690G>C c.599G>C (p.Arg200Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.62996042C>T | CA380982497 | SLC22A8 | c.872G>A (p.Arg291Lys) c.503G>A (p.Arg168Lys) n.690G>A c.599G>A (p.Arg200Lys) | COSMIC |
11 | g.62996043T>A | CA380982501 | SLC22A8 | c.871A>T (p.Arg291Trp) c.502A>T (p.Arg168Trp) n.689A>T c.598A>T (p.Arg200Trp) | |
11 | g.62996043T>C | CA380982503 | SLC22A8 | c.871A>G (p.Arg291Gly) c.502A>G (p.Arg168Gly) n.689A>G c.598A>G (p.Arg200Gly) | |
11 | g.62996043T>G | CA475140793 | SLC22A8 | c.871A>C (p.Arg291=) c.502A>C (p.Arg168=) n.689A>C c.598A>C (p.Arg200=) | |
11 | g.62996044T>A | CA380982504 | SLC22A8 | c.870A>T (p.Glu290Asp) c.501A>T (p.Glu167Asp) n.688A>T c.597A>T (p.Glu199Asp) | |
11 | g.62996044T>C | CA475140794 | SLC22A8 | c.870A>G (p.Glu290=) c.501A>G (p.Glu167=) n.688A>G c.597A>G (p.Glu199=) | |
11 | g.62996044T>G | CA380982506 | SLC22A8 | c.870A>C (p.Glu290Asp) c.501A>C (p.Glu167Asp) n.688A>C c.597A>C (p.Glu199Asp) | |
11 | g.62996045T>A | CA380982508 | SLC22A8 | c.869A>T (p.Glu290Val) c.500A>T (p.Glu167Val) n.687A>T c.596A>T (p.Glu199Val) | |
11 | g.62996045T>C | CA380982510 | SLC22A8 | c.869A>G (p.Glu290Gly) c.500A>G (p.Glu167Gly) n.687A>G c.596A>G (p.Glu199Gly) | |
11 | g.62996045T>G | CA380982511 | SLC22A8 | c.869A>C (p.Glu290Ala) c.500A>C (p.Glu167Ala) n.687A>C c.596A>C (p.Glu199Ala) | |
11 | g.62996046C>A | CA380982514 | SLC22A8 | c.868G>T (p.Glu290Ter) c.499G>T (p.Glu167Ter) n.686G>T c.595G>T (p.Glu199Ter) | |
11 | g.62996046C>G | CA380982515 | SLC22A8 | c.868G>C (p.Glu290Gln) c.499G>C (p.Glu167Gln) n.686G>C c.595G>C (p.Glu199Gln) | |
11 | g.62996046C>T | CA380982517 | SLC22A8 | c.868G>A (p.Glu290Lys) c.499G>A (p.Glu167Lys) n.686G>A c.595G>A (p.Glu199Lys) | |
11 | g.62996046_62996047delinsCT | CA1978013187 | SLC22A8 | c.867_868delinsAG (p.Gly289=) c.498_499delinsAG (p.Gly166=) n.685_686delinsAG c.594_595delinsAG (p.Gly198=) | |
11 | g.62996047del | CA223623847 | SLC22A8 | c.867del (p.Glu290LysfsTer?) c.498del (p.Glu167LysfsTer?) n.685del c.594del (p.Glu199LysfsTer?) | dbSNP |
11 | g.62996047T>A | CA475140795 | SLC22A8 | c.867A>T (p.Gly289=) c.498A>T (p.Gly166=) n.685A>T c.594A>T (p.Gly198=) | |
11 | g.62996047T>C | CA475140796 | SLC22A8 | c.867A>G (p.Gly289=) c.498A>G (p.Gly166=) n.685A>G c.594A>G (p.Gly198=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.62996047T>G | CA475140797 | SLC22A8 | c.867A>C (p.Gly289=) c.498A>C (p.Gly166=) n.685A>C c.594A>C (p.Gly198=) | |
11 | g.62996047T= | CA1978013189 | SLC22A8 | c.867A= (p.Gly289=) c.498A= (p.Gly166=) n.685A= c.594A= (p.Gly198=) | |
11 | g.62996048C>A | CA380982519 | SLC22A8 | c.866G>T (p.Gly289Val) c.497G>T (p.Gly166Val) n.684G>T c.593G>T (p.Gly198Val) | dbSNP gnomAD v4 |
11 | g.62996048C= | CA1978013191 | SLC22A8 | c.866G= (p.Gly289=) c.497G= (p.Gly166=) n.684G= c.593G= (p.Gly198=) | |
11 | g.62996048C>G | CA223623862 | SLC22A8 | c.866G>C (p.Gly289Ala) c.497G>C (p.Gly166Ala) n.684G>C c.593G>C (p.Gly198Ala) | dbSNP |
11 | g.62996048C>T | CA380982521 | SLC22A8 | c.866G>A (p.Gly289Glu) c.497G>A (p.Gly166Glu) n.684G>A c.593G>A (p.Gly198Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.62996050del | CA2614035274 | SLC22A8 | c.866del (p.Gly289GlufsTer?) c.497del (p.Gly166GlufsTer?) n.684del c.593del (p.Gly198GlufsTer?) | gnomAD v4 |
11 | g.62996049C>A | CA380982523 | SLC22A8 | c.865G>T (p.Gly289Ter) c.496G>T (p.Gly166Ter) n.683G>T c.592G>T (p.Gly198Ter) | |
11 | g.62996049C= | CA1978013194 | SLC22A8 | c.865G= (p.Gly289=) c.496G= (p.Gly166=) n.683G= c.592G= (p.Gly198=) | |
11 | g.62996049C>G | CA380982527 | SLC22A8 | c.865G>C (p.Gly289Arg) c.496G>C (p.Gly166Arg) n.683G>C c.592G>C (p.Gly198Arg) | |
11 | g.62996049C>T | CA380982526 | SLC22A8 | c.865G>A (p.Gly289Arg) c.496G>A (p.Gly166Arg) n.683G>A c.592G>A (p.Gly198Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.62996050C>A | CA380982528 | SLC22A8 | c.864G>T (p.Glu288Asp) c.495G>T (p.Glu165Asp) n.682G>T c.591G>T (p.Glu197Asp) | |
11 | g.62996050C>G | CA380982529 | SLC22A8 | c.864G>C (p.Glu288Asp) c.495G>C (p.Glu165Asp) n.682G>C c.591G>C (p.Glu197Asp) | |
11 | g.62996050C>T | CA475140798 | SLC22A8 | c.864G>A (p.Glu288=) c.495G>A (p.Glu165=) n.682G>A c.591G>A (p.Glu197=) | |
11 | g.62996051T>A | CA380982531 | SLC22A8 | c.863A>T (p.Glu288Val) c.494A>T (p.Glu165Val) n.681A>T c.590A>T (p.Glu197Val) | |
11 | g.62996051T>C | CA380982533 | SLC22A8 | c.863A>G (p.Glu288Gly) c.494A>G (p.Glu165Gly) n.681A>G c.590A>G (p.Glu197Gly) | |
11 | g.62996051T>G | CA380982534 | SLC22A8 | c.863A>C (p.Glu288Ala) c.494A>C (p.Glu165Ala) n.681A>C c.590A>C (p.Glu197Ala) | |
11 | g.62996053_62996055del | CA2614035275 | SLC22A8 | c.861_863del (p.Glu288del) c.492_494del (p.Glu165del) n.679_681del c.588_590del (p.Glu197del) | gnomAD v4 |
11 | g.62996052C>A | CA380982536 | SLC22A8 | c.862G>T (p.Glu288Ter) c.493G>T (p.Glu165Ter) n.680G>T c.589G>T (p.Glu197Ter) | |
11 | g.62996052C>G | CA380982537 | SLC22A8 | c.862G>C (p.Glu288Gln) c.493G>C (p.Glu165Gln) n.680G>C c.589G>C (p.Glu197Gln) | |
11 | g.62996052C>T | CA380982539 | SLC22A8 | c.862G>A (p.Glu288Lys) c.493G>A (p.Glu165Lys) n.680G>A c.589G>A (p.Glu197Lys) | |
11 | g.62996053T>A | CA380982541 | SLC22A8 | c.861A>T (p.Glu287Asp) c.492A>T (p.Glu164Asp) n.679A>T c.588A>T (p.Glu196Asp) | |
11 | g.62996053T>C | CA475140799 | SLC22A8 | c.861A>G (p.Glu287=) c.492A>G (p.Glu164=) n.679A>G c.588A>G (p.Glu196=) | |
11 | g.62996053T>G | CA380982543 | SLC22A8 | c.861A>C (p.Glu287Asp) c.492A>C (p.Glu164Asp) n.679A>C c.588A>C (p.Glu196Asp) | |
11 | g.62996054T>A | CA380982545 | SLC22A8 | c.860A>T (p.Glu287Val) c.491A>T (p.Glu164Val) n.678A>T c.587A>T (p.Glu196Val) | |
11 | g.62996054T>C | CA380982546 | SLC22A8 | c.860A>G (p.Glu287Gly) c.491A>G (p.Glu164Gly) n.678A>G c.587A>G (p.Glu196Gly) | |
11 | g.62996054T>G | CA380982548 | SLC22A8 | c.860A>C (p.Glu287Ala) c.491A>C (p.Glu164Ala) n.678A>C c.587A>C (p.Glu196Ala) | |
11 | g.62996055C>A | CA380982554 | SLC22A8 | c.859G>T (p.Glu287Ter) c.490G>T (p.Glu164Ter) n.677G>T c.586G>T (p.Glu196Ter) | |
11 | g.62996055C= | CA1978013196 | SLC22A8 | c.859G= (p.Glu287=) c.490G= (p.Glu164=) n.677G= c.586G= (p.Glu196=) | |
11 | g.62996055C>G | CA380982550 | SLC22A8 | c.859G>C (p.Glu287Gln) c.490G>C (p.Glu164Gln) n.677G>C c.586G>C (p.Glu196Gln) | |
11 | g.62996055C>T | CA380982551 | SLC22A8 | c.859G>A (p.Glu287Lys) c.490G>A (p.Glu164Lys) n.677G>A c.586G>A (p.Glu196Lys) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.62996056C>A | CA380982555 | SLC22A8 | c.858G>T (p.Lys286Asn) c.489G>T (p.Lys163Asn) n.676G>T c.585G>T (p.Lys195Asn) | |
11 | g.62996056C>G | CA380982557 | SLC22A8 | c.858G>C (p.Lys286Asn) c.489G>C (p.Lys163Asn) n.676G>C c.585G>C (p.Lys195Asn) | |
11 | g.62996056C>T | CA475140800 | SLC22A8 | c.858G>A (p.Lys286=) c.489G>A (p.Lys163=) n.676G>A c.585G>A (p.Lys195=) | |
11 | g.62996057T>A | CA380982559 | SLC22A8 | c.857A>T (p.Lys286Met) c.488A>T (p.Lys163Met) n.675A>T c.584A>T (p.Lys195Met) | |
11 | g.62996057T>C | CA380982560 | SLC22A8 | c.857A>G (p.Lys286Arg) c.488A>G (p.Lys163Arg) n.675A>G c.584A>G (p.Lys195Arg) | |
11 | g.62996057T>G | CA380982561 | SLC22A8 | c.857A>C (p.Lys286Thr) c.488A>C (p.Lys163Thr) n.675A>C c.584A>C (p.Lys195Thr) | |
11 | g.62996058T>A | CA380982562 | SLC22A8 | c.856A>T (p.Lys286Ter) c.487A>T (p.Lys163Ter) n.674A>T c.583A>T (p.Lys195Ter) | |
11 | g.62996058T>C | CA380982563 | SLC22A8 | c.856A>G (p.Lys286Glu) c.487A>G (p.Lys163Glu) n.674A>G c.583A>G (p.Lys195Glu) | |
11 | g.62996058T>G | CA380982565 | SLC22A8 | c.856A>C (p.Lys286Gln) c.487A>C (p.Lys163Gln) n.674A>C c.583A>C (p.Lys195Gln) | |
11 | g.62996059C>A | CA380982567 | SLC22A8 | c.855G>T (p.Lys285Asn) c.486G>T (p.Lys162Asn) n.673G>T c.582G>T (p.Lys194Asn) | |
11 | g.62996059C= | CA1978013198 | SLC22A8 | c.855G= (p.Lys285=) c.486G= (p.Lys162=) n.673G= c.582G= (p.Lys194=) | |
11 | g.62996059C>G | CA380982569 | SLC22A8 | c.855G>C (p.Lys285Asn) c.486G>C (p.Lys162Asn) n.673G>C c.582G>C (p.Lys194Asn) | |
11 | g.62996059C>T | CA6059818 | SLC22A8 | c.855G>A (p.Lys285=) c.486G>A (p.Lys162=) n.673G>A c.582G>A (p.Lys194=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.62996060T>A | CA380982571 | SLC22A8 | c.854A>T (p.Lys285Met) c.485A>T (p.Lys162Met) n.672A>T c.581A>T (p.Lys194Met) | |
11 | g.62996060T>C | CA380982574 | SLC22A8 | c.854A>G (p.Lys285Arg) c.485A>G (p.Lys162Arg) n.672A>G c.581A>G (p.Lys194Arg) | |
11 | g.62996060T>G | CA380982572 | SLC22A8 | c.854A>C (p.Lys285Thr) c.485A>C (p.Lys162Thr) n.672A>C c.581A>C (p.Lys194Thr) | |
11 | g.62996061T>A | CA380982575 | SLC22A8 | c.853A>T (p.Lys285Ter) c.484A>T (p.Lys162Ter) n.671A>T c.580A>T (p.Lys194Ter) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.62996061T>C | CA380982576 | SLC22A8 | c.853A>G (p.Lys285Glu) c.484A>G (p.Lys162Glu) n.671A>G c.580A>G (p.Lys194Glu) | |
11 | g.62996061T>G | CA380982578 | SLC22A8 | c.853A>C (p.Lys285Gln) c.484A>C (p.Lys162Gln) n.671A>C c.580A>C (p.Lys194Gln) | |
11 | g.62996061T= | CA1978013199 | SLC22A8 | c.853A= (p.Lys285=) c.484A= (p.Lys162=) n.671A= c.580A= (p.Lys194=) | |
11 | g.62996062G>A | CA6059819 | SLC22A8 | c.852C>T (p.Gly284=) c.483C>T (p.Gly161=) n.670C>T c.579C>T (p.Gly193=) | dbSNP ExAC |
11 | g.62996062G>C | CA475140804 | SLC22A8 | c.852C>G (p.Gly284=) c.483C>G (p.Gly161=) n.670C>G c.579C>G (p.Gly193=) | |
11 | g.62996062G= | CA1978013201 | SLC22A8 | c.852C= (p.Gly284=) c.483C= (p.Gly161=) n.670C= c.579C= (p.Gly193=) | |
11 | g.62996062G>T | CA475140802 | SLC22A8 | c.852C>A (p.Gly284=) c.483C>A (p.Gly161=) n.670C>A c.579C>A (p.Gly193=) | |
11 | g.62996063C>A | CA380982581 | SLC22A8 | c.851G>T (p.Gly284Val) c.482G>T (p.Gly161Val) n.669G>T c.578G>T (p.Gly193Val) | |
11 | g.62996063C>G | CA380982582 | SLC22A8 | c.851G>C (p.Gly284Ala) c.482G>C (p.Gly161Ala) n.669G>C c.578G>C (p.Gly193Ala) | |
11 | g.62996063C>T | CA380982584 | SLC22A8 | c.851G>A (p.Gly284Asp) c.482G>A (p.Gly161Asp) n.669G>A c.578G>A (p.Gly193Asp) | |
11 | g.62996064C>A | CA380982590 | SLC22A8 | c.850G>T (p.Gly284Cys) c.481G>T (p.Gly161Cys) n.668G>T c.577G>T (p.Gly193Cys) | |
11 | g.62996064C>G | CA380982586 | SLC22A8 | c.850G>C (p.Gly284Arg) c.481G>C (p.Gly161Arg) n.668G>C c.577G>C (p.Gly193Arg) | |
11 | g.62996064C>T | CA380982588 | SLC22A8 | c.850G>A (p.Gly284Ser) c.481G>A (p.Gly161Ser) n.668G>A c.577G>A (p.Gly193Ser) | gnomAD v4 |
11 | g.62996065A= | CA1978013203 | SLC22A8 | c.849T= (p.Asn283=) c.480T= (p.Asn160=) n.667T= c.576T= (p.Asn192=) | |
11 | g.62996065A>C | CA380982592 | SLC22A8 | c.849T>G (p.Asn283Lys) c.480T>G (p.Asn160Lys) n.667T>G c.576T>G (p.Asn192Lys) | |
11 | g.62996065A>G | CA475140807 | SLC22A8 | c.849T>C (p.Asn283=) c.480T>C (p.Asn160=) n.667T>C c.576T>C (p.Asn192=) | dbSNP gnomAD v2 |
11 | g.62996065A>T | CA380982593 | SLC22A8 | c.849T>A (p.Asn283Lys) c.480T>A (p.Asn160Lys) n.667T>A c.576T>A (p.Asn192Lys) | |
11 | g.62996066T>A | CA380982594 | SLC22A8 | c.848A>T (p.Asn283Ile) c.479A>T (p.Asn160Ile) n.666A>T c.575A>T (p.Asn192Ile) | |
11 | g.62996066T>C | CA380982596 | SLC22A8 | c.848A>G (p.Asn283Ser) c.479A>G (p.Asn160Ser) n.666A>G c.575A>G (p.Asn192Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.62996066T>G | CA380982598 | SLC22A8 | c.848A>C (p.Asn283Thr) c.479A>C (p.Asn160Thr) n.666A>C c.575A>C (p.Asn192Thr) | |
11 | g.62996066T= | CA1978013205 | SLC22A8 | c.848A= (p.Asn283=) c.479A= (p.Asn160=) n.666A= c.575A= (p.Asn192=) | |
11 | g.62996067T>A | CA380982600 | SLC22A8 | c.847A>T (p.Asn283Tyr) c.478A>T (p.Asn160Tyr) n.665A>T c.574A>T (p.Asn192Tyr) | |
11 | g.62996067T>C | CA6059820 | SLC22A8 | c.847A>G (p.Asn283Asp) c.478A>G (p.Asn160Asp) n.665A>G c.574A>G (p.Asn192Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.62996067T>G | CA380982601 | SLC22A8 | c.847A>C (p.Asn283His) c.478A>C (p.Asn160His) n.665A>C c.574A>C (p.Asn192His) | |
11 | g.62996067T= | CA1978013207 | SLC22A8 | c.847A= (p.Asn283=) c.478A= (p.Asn160=) n.665A= c.574A= (p.Asn192=) | |
11 | g.62996068G>A | CA475140809 | SLC22A8 | c.846C>T (p.Phe282=) c.477C>T (p.Phe159=) n.664C>T c.573C>T (p.Phe191=) | |
11 | g.62996068G>C | CA380982605 | SLC22A8 | c.846C>G (p.Phe282Leu) c.477C>G (p.Phe159Leu) n.664C>G c.573C>G (p.Phe191Leu) | |
11 | g.62996068G>T | CA380982606 | SLC22A8 | c.846C>A (p.Phe282Leu) c.477C>A (p.Phe159Leu) n.664C>A c.573C>A (p.Phe191Leu) | |
11 | g.62996069A>C | CA380982608 | SLC22A8 | c.845T>G (p.Phe282Cys) c.476T>G (p.Phe159Cys) n.663T>G c.572T>G (p.Phe191Cys) | |
11 | g.62996069A>G | CA380982610 | SLC22A8 | c.845T>C (p.Phe282Ser) c.476T>C (p.Phe159Ser) n.663T>C c.572T>C (p.Phe191Ser) | gnomAD v4 |
11 | g.62996069A>T | CA380982611 | SLC22A8 | c.845T>A (p.Phe282Tyr) c.476T>A (p.Phe159Tyr) n.663T>A c.572T>A (p.Phe191Tyr) | |
11 | g.62996070A= | CA1978013209 | SLC22A8 | c.844T= (p.Phe282=) c.475T= (p.Phe159=) n.662T= c.571T= (p.Phe191=) | |
11 | g.62996070A>C | CA380982613 | SLC22A8 | c.844T>G (p.Phe282Val) c.475T>G (p.Phe159Val) n.662T>G c.571T>G (p.Phe191Val) | |
11 | g.62996070A>G | CA380982614 | SLC22A8 | c.844T>C (p.Phe282Leu) c.475T>C (p.Phe159Leu) n.662T>C c.571T>C (p.Phe191Leu) | |
11 | g.62996070A>T | CA6059821 | SLC22A8 | c.844T>A (p.Phe282Ile) c.475T>A (p.Phe159Ile) n.662T>A c.571T>A (p.Phe191Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.62996071G>A | CA475140810 | SLC22A8 | c.843C>T (p.Val281=) c.474C>T (p.Val158=) n.661C>T c.570C>T (p.Val190=) | dbSNP |
11 | g.62996071G>C | CA475140811 | SLC22A8 | c.843C>G (p.Val281=) c.474C>G (p.Val158=) n.661C>G c.570C>G (p.Val190=) | |
11 | g.62996071G= | CA1978013210 | SLC22A8 | c.843C= (p.Val281=) c.474C= (p.Val158=) n.661C= c.570C= (p.Val190=) | |
11 | g.62996071G>T | CA475140812 | SLC22A8 | c.843C>A (p.Val281=) c.474C>A (p.Val158=) n.661C>A c.570C>A (p.Val190=) | |
11 | g.62996072A= | CA1978013214 | SLC22A8 | c.842T= (p.Val281=) c.473T= (p.Val158=) n.660T= c.569T= (p.Val190=) | |
11 | g.62996072A>C | CA380982617 | SLC22A8 | c.842T>G (p.Val281Gly) c.473T>G (p.Val158Gly) n.660T>G c.569T>G (p.Val190Gly) | |
11 | g.62996072A>G | CA6059822 | SLC22A8 | c.842T>C (p.Val281Ala) c.473T>C (p.Val158Ala) n.660T>C c.569T>C (p.Val190Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.62996072A>T | CA380982619 | SLC22A8 | c.842T>A (p.Val281Asp) c.473T>A (p.Val158Asp) n.660T>A c.569T>A (p.Val190Asp) | dbSNP |
11 | g.62996073C>A | CA380982621 | SLC22A8 | c.841G>T (p.Val281Phe) c.472G>T (p.Val158Phe) n.659G>T c.568G>T (p.Val190Phe) | |
11 | g.62996073C>G | CA380982624 | SLC22A8 | c.841G>C (p.Val281Leu) c.472G>C (p.Val158Leu) n.659G>C c.568G>C (p.Val190Leu) | |
11 | g.62996073C>T | CA380982623 | SLC22A8 | c.841G>A (p.Val281Ile) c.472G>A (p.Val158Ile) n.659G>A c.568G>A (p.Val190Ile) | |
11 | g.62996074A>C | CA475140816 | SLC22A8 | c.840T>G (p.Ala280=) c.471T>G (p.Ala157=) n.658T>G c.567T>G (p.Ala189=) | |
11 | g.62996074A>G | CA475140819 | SLC22A8 | c.840T>C (p.Ala280=) c.471T>C (p.Ala157=) n.658T>C c.567T>C (p.Ala189=) | |
11 | g.62996074A>T | CA475140818 | SLC22A8 | c.840T>A (p.Ala280=) c.471T>A (p.Ala157=) n.658T>A c.567T>A (p.Ala189=) | |
11 | g.62996075G>A | CA223623895 | SLC22A8 | c.839C>T (p.Ala280Val) c.470C>T (p.Ala157Val) n.657C>T c.566C>T (p.Ala189Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.62996075G>C | CA380982627 | SLC22A8 | c.839C>G (p.Ala280Gly) c.470C>G (p.Ala157Gly) n.657C>G c.566C>G (p.Ala189Gly) | |
11 | g.62996075G= | CA1978013217 | SLC22A8 | c.839C= (p.Ala280=) c.470C= (p.Ala157=) n.657C= c.566C= (p.Ala189=) | |
11 | g.62996075G>T | CA380982628 | SLC22A8 | c.839C>A (p.Ala280Asp) c.470C>A (p.Ala157Asp) n.657C>A c.566C>A (p.Ala189Asp) | |
11 | g.62996076C>A | CA380982629 | SLC22A8 | c.838G>T (p.Ala280Ser) c.469G>T (p.Ala157Ser) n.656G>T c.565G>T (p.Ala189Ser) | |
11 | g.62996076C= | CA1978013219 | SLC22A8 | c.838G= (p.Ala280=) c.469G= (p.Ala157=) n.656G= c.565G= (p.Ala189=) | |
11 | g.62996076C>G | CA380982630 | SLC22A8 | c.838G>C (p.Ala280Pro) c.469G>C (p.Ala157Pro) n.656G>C c.565G>C (p.Ala189Pro) | |
11 | g.62996076C>T | CA380982632 | SLC22A8 | c.838G>A (p.Ala280Thr) c.469G>A (p.Ala157Thr) n.656G>A c.565G>A (p.Ala189Thr) | |
11 | g.62996076_62996077insA | CA918896374 | SLC22A8 | c.837_838insT (p.Ala280CysfsTer?) c.468_469insT (p.Ala157CysfsTer?) n.655_656insT c.564_565insT (p.Ala189CysfsTer?) | dbSNP |
11 | g.62996077C>A | CA475140823 | SLC22A8 | c.837G>T (p.Val279=) c.468G>T (p.Val156=) n.655G>T c.564G>T (p.Val188=) | |
11 | g.62996077C>G | CA475140824 | SLC22A8 | c.837G>C (p.Val279=) c.468G>C (p.Val156=) n.655G>C c.564G>C (p.Val188=) | |
11 | g.62996077C>T | CA475140825 | SLC22A8 | c.837G>A (p.Val279=) c.468G>A (p.Val156=) n.655G>A c.564G>A (p.Val188=) | |
11 | g.62996078A= | CA1978013221 | SLC22A8 | c.836T= (p.Val279=) c.467T= (p.Val156=) n.654T= c.563T= (p.Val188=) | |
11 | g.62996078A>C | CA380982634 | SLC22A8 | c.836T>G (p.Val279Gly) c.467T>G (p.Val156Gly) n.654T>G c.563T>G (p.Val188Gly) | dbSNP |
11 | g.62996078A>G | CA380982636 | SLC22A8 | c.836T>C (p.Val279Ala) c.467T>C (p.Val156Ala) n.654T>C c.563T>C (p.Val188Ala) | gnomAD v4 |
11 | g.62996078A>T | CA380982637 | SLC22A8 | c.836T>A (p.Val279Glu) c.467T>A (p.Val156Glu) n.654T>A c.563T>A (p.Val188Glu) | |
11 | g.62996079C>A | CA380982640 | SLC22A8 | c.835G>T (p.Val279Leu) c.466G>T (p.Val156Leu) n.653G>T c.562G>T (p.Val188Leu) | |
11 | g.62996079C= | CA1978013223 | SLC22A8 | c.835G= (p.Val279=) c.466G= (p.Val156=) n.653G= c.562G= (p.Val188=) | |
11 | g.62996079C>G | CA380982641 | SLC22A8 | c.835G>C (p.Val279Leu) c.466G>C (p.Val156Leu) n.653G>C c.562G>C (p.Val188Leu) | |
11 | g.62996079C>T | CA380982643 | SLC22A8 | c.835G>A (p.Val279Met) c.466G>A (p.Val156Met) n.653G>A c.562G>A (p.Val188Met) | dbSNP gnomAD v4 COSMIC |
11 | g.62996081del | CA2614035276 | SLC22A8 | c.835del (p.Val279TrpfsTer?) c.466del (p.Val156TrpfsTer?) n.653del c.562del (p.Val188TrpfsTer?) | gnomAD v4 |
11 | g.62996080C>A | CA475140829 | SLC22A8 | c.834G>T (p.Arg278=) c.465G>T (p.Arg155=) n.652G>T c.561G>T (p.Arg187=) | dbSNP |
11 | g.62996080C= | CA1978013225 | SLC22A8 | c.834G= (p.Arg278=) c.465G= (p.Arg155=) n.652G= c.561G= (p.Arg187=) | |
11 | g.62996080C>G | CA475140830 | SLC22A8 | c.834G>C (p.Arg278=) c.465G>C (p.Arg155=) n.652G>C c.561G>C (p.Arg187=) | |
11 | g.62996080C>T | CA475140831 | SLC22A8 | c.834G>A (p.Arg278=) c.465G>A (p.Arg155=) n.652G>A c.561G>A (p.Arg187=) | |
11 | g.62996081C>A | CA380982647 | SLC22A8 | c.833G>T (p.Arg278Leu) c.464G>T (p.Arg155Leu) n.651G>T c.560G>T (p.Arg187Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.62996081C= | CA1978013227 | SLC22A8 | c.833G= (p.Arg278=) c.464G= (p.Arg155=) n.651G= c.560G= (p.Arg187=) | |
11 | g.62996081C>G | CA380982645 | SLC22A8 | c.833G>C (p.Arg278Pro) c.464G>C (p.Arg155Pro) n.651G>C c.560G>C (p.Arg187Pro) | |
11 | g.62996081C>T | CA223623896 | SLC22A8 | c.833G>A (p.Arg278Gln) c.464G>A (p.Arg155Gln) n.651G>A c.560G>A (p.Arg187Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.62996082G>A | CA223623901 | SLC22A8 | c.832C>T (p.Arg278Trp) c.463C>T (p.Arg155Trp) n.650C>T c.559C>T (p.Arg187Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.62996082G>C | CA380982649 | SLC22A8 | c.832C>G (p.Arg278Gly) c.463C>G (p.Arg155Gly) n.650C>G c.559C>G (p.Arg187Gly) | |
11 | g.62996082G= | CA1978013229 | SLC22A8 | c.832C= (p.Arg278=) c.463C= (p.Arg155=) n.650C= c.559C= (p.Arg187=) | |
11 | g.62996082G>T | CA475140835 | SLC22A8 | c.832C>A (p.Arg278=) c.463C>A (p.Arg155=) n.650C>A c.559C>A (p.Arg187=) | |
11 | g.62996083C>A | CA475140839 | SLC22A8 | c.831G>T (p.Arg277=) c.462G>T (p.Arg154=) n.649G>T c.558G>T (p.Arg186=) | |
11 | g.62996083C>G | CA475140837 | SLC22A8 | c.831G>C (p.Arg277=) c.462G>C (p.Arg154=) n.649G>C c.558G>C (p.Arg186=) | |
11 | g.62996083C>T | CA475140838 | SLC22A8 | c.831G>A (p.Arg277=) c.462G>A (p.Arg154=) n.649G>A c.558G>A (p.Arg186=) | |
11 | g.62996084C>A | CA380982651 | SLC22A8 | c.830G>T (p.Arg277Leu) c.461G>T (p.Arg154Leu) n.648G>T c.557G>T (p.Arg186Leu) | |
11 | g.62996084C= | CA1978013231 | SLC22A8 | c.830G= (p.Arg277=) c.461G= (p.Arg154=) n.648G= c.557G= (p.Arg186=) | |
11 | g.62996084C>G | CA380982653 | SLC22A8 | c.830G>C (p.Arg277Pro) c.461G>C (p.Arg154Pro) n.648G>C c.557G>C (p.Arg186Pro) | |
11 | g.62996084C>T | CA6059823 | SLC22A8 | c.830G>A (p.Arg277Gln) c.461G>A (p.Arg154Gln) n.648G>A c.557G>A (p.Arg186Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.62996085G>A | CA6059824 | SLC22A8 | c.829C>T (p.Arg277Trp) c.460C>T (p.Arg154Trp) n.647C>T c.556C>T (p.Arg186Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.62996085G>C | CA380982656 | SLC22A8 | c.829C>G (p.Arg277Gly) c.460C>G (p.Arg154Gly) n.647C>G c.556C>G (p.Arg186Gly) | |
11 | g.62996085G= | CA1978013233 | SLC22A8 | c.829C= (p.Arg277=) c.460C= (p.Arg154=) n.647C= c.556C= (p.Arg186=) | |
11 | g.62996085G>T | CA475140842 | SLC22A8 | c.829C>A (p.Arg277=) c.460C>A (p.Arg154=) n.647C>A c.556C>A (p.Arg186=) | |
11 | g.62996085_62996086delinsAA | CA645575933 | SLC22A8 | c.828_829delinsTT (p.Arg277Trp) c.459_460delinsTT (p.Arg154Trp) n.646_647delinsTT c.555_556delinsTT (p.Arg186Trp) | COSMIC |