| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.146018028_146018040del | CA2647575198 | HJV | c.*41_*53del (n.*41_*53del) | gnomAD v4 |
| 1 | g.146018040A>G | CA2697198114 | HJV | c.*37T>C (n.*37T>C) | dbSNP |
| 1 | g.146018043C>A | CA2647575203 | HJV | c.*34G>T (n.*34G>T) | gnomAD v4 |
| 1 | g.146018044A>G | CA2647575204 | HJV | c.*33T>C (n.*33T>C) | gnomAD v4 |
| 1 | g.146018045T>C | CA1198820821 | HJV | c.*32A>G (n.*32A>G) | dbSNP |
| 1 | g.146018045T= | CA1198820820 | HJV | c.*32A= (n.*32A=) | |
| 1 | g.146018046T>A | CA888578114 | HJV | c.*31A>T (n.*31A>T) | dbSNP |
| 1 | g.146018046T= | CA1198820822 | HJV | c.*31A= (n.*31A=) | |
| 1 | g.146018047T>C | CA2745933937 | HJV | c.*30A>G (n.*30A>G) | |
| 1 | g.146018048C>A | CA2647575205 | HJV | c.*29G>T (n.*29G>T) | gnomAD v4 |
| 1 | g.146018049C>A | CA29822658 | HJV | c.*28G>T (n.*28G>T) | |
| 1 | g.146018049C= | CA1198820823 | HJV | c.*28G= (n.*28G=) | |
| 1 | g.146018049C>G | CA29822660 | HJV | c.*28G>C (n.*28G>C) | |
| 1 | g.146018049C>T | CA1053997 | HJV | c.*28G>A (n.*28G>A) | dbSNP ExAC gnomAD v2 |
| 1 | g.146018051A= | CA1198820824 | HJV | c.*26T= (n.*26T=) | |
| 1 | g.146018051A>G | CA1198820825 | HJV | c.*26T>C (n.*26T>C) | dbSNP gnomAD v4 |
| 1 | g.146018056G>A | CA526254181 | HJV | c.*21C>T (n.*21C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018056G= | CA1198820826 | HJV | c.*21C= (n.*21C=) | |
| 1 | g.146018059A= | CA1198820827 | HJV | c.*18T= (n.*18T=) | |
| 1 | g.146018059A>C | CA29822665 | HJV | c.*18T>G (n.*18T>G) | |
| 1 | g.146018059A>G | CA1053996 | HJV | c.*18T>C (n.*18T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018059A>T | CA29822670 | HJV | c.*18T>A (n.*18T>A) | |
| 1 | g.146018060T>A | CA29822672 | HJV | c.*17A>T (n.*17A>T) | |
| 1 | g.146018060T>C | CA1053995 | HJV | c.*17A>G (n.*17A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018060T>G | CA29822678 | HJV | c.*17A>C (n.*17A>C) | |
| 1 | g.146018060T= | CA1198820828 | HJV | c.*17A= (n.*17A=) | |
| 1 | g.146018061G>A | CA2647575206 | HJV | c.*16C>T (n.*16C>T) | gnomAD v4 |
| 1 | g.146018062G>A | CA420249930 | HJV | c.*15C>T (n.*15C>T) | dbSNP |
| 1 | g.146018062G>C | CA2574047892 | HJV | c.*15C>G (n.*15C>G) | |
| 1 | g.146018062G= | CA1198820829 | HJV | c.*15C= (n.*15C=) | |
| 1 | g.146018063G>A | CA888578125 | HJV | c.*14C>T (n.*14C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.146018063G= | CA1198820830 | HJV | c.*14C= (n.*14C=) | |
| 1 | g.146018063G>T | CA526254182 | HJV | c.*14C>A (n.*14C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018065C= | CA1198820831 | HJV | c.*12G= (n.*12G=) | |
| 1 | g.146018065C>G | CA526254183 | HJV | c.*12G>C (n.*12G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018065C>T | CA2647575208 | HJV | c.*12G>A (n.*12G>A) | gnomAD v4 |
| 1 | g.146018067G>A | CA2647575209 | HJV | c.*10C>T (n.*10C>T) | gnomAD v4 |
| 1 | g.146018069T>C | CA2647575210 | HJV | c.*8A>G (n.*8A>G) | gnomAD v4 |
| 1 | g.146018069T>G | CA2697198136 | HJV | c.*8A>C (n.*8A>C) | dbSNP |
| 1 | g.146018071G>A | CA1053994 | HJV | c.*6C>T (n.*6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018071G>C | CA29822681 | HJV | c.*6C>G (n.*6C>G) | |
| 1 | g.146018071G= | CA1148193605 | HJV | c.*6C= (n.*6C=) | |
| 1 | g.146018071G>T | CA29822686 | HJV | c.*6C>A (n.*6C>A) | |
| 1 | g.146018072_146018073delinsTC | CA1198820832 | HJV | c.*4_*5delinsGA (n.*4_*5delinsGA) | |
| 1 | g.146018073C>A | CA526254184 | HJV | c.*4G>T (n.*4G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018073C= | CA1198820833 | HJV | c.*4G= (n.*4G=) | |
| 1 | g.146018076del | CA526254185 | HJV | c.*4del (n.*4del) | dbSNP gnomAD v2 |
| 1 | g.146018075C>T | CA2647575211 | HJV | c.*2G>A (n.*2G>A) | gnomAD v4 |
| 1 | g.146018076C= | CA1198820834 | HJV | c.*1G= (n.*1G=) | |
| 1 | g.146018076C>T | CA29822689 | HJV | c.*1G>A (n.*1G>A) | dbSNP |
| 1 | g.146018077T>A | CA342130943 | HJV | c.1281A>T (p.Ter427Tyr) c.603A>T (p.Ter201Tyr) c.942A>T (p.Ter314Tyr) | |
| 1 | g.146018077T>C | CA420249931 | HJV | c.1281A>G (p.Ter427=) c.603A>G (p.Ter201=) c.942A>G (p.Ter314=) | |
| 1 | g.146018077T>G | CA342130947 | HJV | c.1281A>C (p.Ter427Tyr) c.603A>C (p.Ter201Tyr) c.942A>C (p.Ter314Tyr) | |
| 1 | g.146018078T>A | CA342130955 | HJV | c.1280A>T (p.Ter427Leu) c.602A>T (p.Ter201Leu) c.941A>T (p.Ter314Leu) | |
| 1 | g.146018078T>C | CA420249936 | HJV | c.1280A>G (p.Ter427=) c.602A>G (p.Ter201=) c.941A>G (p.Ter314=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.146018078T>G | CA342130958 | HJV | c.1280A>C (p.Ter427Ser) c.602A>C (p.Ter201Ser) c.941A>C (p.Ter314Ser) | |
| 1 | g.146018078T= | CA1198820835 | HJV | c.1280A= (p.Ter427=) c.602A= (p.Ter201=) c.941A= (p.Ter314=) | |
| 1 | g.146018079A= | CA1198820836 | HJV | c.1279T= (p.Ter427=) c.601T= (p.Ter201=) c.940T= (p.Ter314=) | |
| 1 | g.146018079A>C | CA342130970 | HJV | c.1279T>G (p.Ter427Glu) c.601T>G (p.Ter201Glu) c.940T>G (p.Ter314Glu) | |
| 1 | g.146018079A>G | CA342130974 | HJV | c.1279T>C (p.Ter427Gln) c.601T>C (p.Ter201Gln) c.940T>C (p.Ter314Gln) | dbSNP |
| 1 | g.146018079A>T | CA342130983 | HJV | c.1279T>A (p.Ter427Lys) c.601T>A (p.Ter201Lys) c.940T>A (p.Ter314Lys) | |
| 1 | g.146018080C>A | CA342130986 | HJV | c.1278G>T (p.Gln426His) c.600G>T (p.Gln200His) c.939G>T (p.Gln313His) | |
| 1 | g.146018080C>G | CA342130992 | HJV | c.1278G>C (p.Gln426His) c.600G>C (p.Gln200His) c.939G>C (p.Gln313His) | |
| 1 | g.146018080C>T | CA420249941 | HJV | c.1278G>A (p.Gln426=) c.600G>A (p.Gln200=) c.939G>A (p.Gln313=) | |
| 1 | g.146018081T>A | CA342131015 | HJV | c.1277A>T (p.Gln426Leu) c.599A>T (p.Gln200Leu) c.938A>T (p.Gln313Leu) | |
| 1 | g.146018081T>C | CA342131037 | HJV | c.1277A>G (p.Gln426Arg) c.599A>G (p.Gln200Arg) c.938A>G (p.Gln313Arg) | |
| 1 | g.146018081T>G | CA342131031 | HJV | c.1277A>C (p.Gln426Pro) c.599A>C (p.Gln200Pro) c.938A>C (p.Gln313Pro) | |
| 1 | g.146018082G>A | CA342131040 | HJV | c.1276C>T (p.Gln426Ter) c.598C>T (p.Gln200Ter) c.937C>T (p.Gln313Ter) | COSMIC |
| 1 | g.146018082G>C | CA342131049 | HJV | c.1276C>G (p.Gln426Glu) c.598C>G (p.Gln200Glu) c.937C>G (p.Gln313Glu) | |
| 1 | g.146018082G>T | CA342131056 | HJV | c.1276C>A (p.Gln426Lys) c.598C>A (p.Gln200Lys) c.937C>A (p.Gln313Lys) | |
| 1 | g.146018083A= | CA1198820837 | HJV | c.1275T= (p.Ile425=) c.597T= (p.Ile199=) c.936T= (p.Ile312=) | |
| 1 | g.146018083A>C | CA342131060 | HJV | c.1275T>G (p.Ile425Met) c.597T>G (p.Ile199Met) c.936T>G (p.Ile312Met) | |
| 1 | g.146018083A>G | CA420249946 | HJV | c.1275T>C (p.Ile425=) c.597T>C (p.Ile199=) c.936T>C (p.Ile312=) | ClinVar dbSNP |
| 1 | g.146018083A>T | CA420249947 | HJV | c.1275T>A (p.Ile425=) c.597T>A (p.Ile199=) c.936T>A (p.Ile312=) | |
| 1 | g.146018084A>C | CA342131077 | HJV | c.1274T>G (p.Ile425Ser) c.596T>G (p.Ile199Ser) c.935T>G (p.Ile312Ser) | COSMIC |
| 1 | g.146018084A>G | CA342131089 | HJV | c.1274T>C (p.Ile425Thr) c.596T>C (p.Ile199Thr) c.935T>C (p.Ile312Thr) | gnomAD v4 |
| 1 | g.146018084A>T | CA342131091 | HJV | c.1274T>A (p.Ile425Asn) c.596T>A (p.Ile199Asn) c.935T>A (p.Ile312Asn) | |
| 1 | g.146018085T>A | CA342131103 | HJV | c.1273A>T (p.Ile425Phe) c.595A>T (p.Ile199Phe) c.934A>T (p.Ile312Phe) | |
| 1 | g.146018085T>C | CA342131106 | HJV | c.1273A>G (p.Ile425Val) c.595A>G (p.Ile199Val) c.934A>G (p.Ile312Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018085T>G | CA342131109 | HJV | c.1273A>C (p.Ile425Leu) c.595A>C (p.Ile199Leu) c.934A>C (p.Ile312Leu) | |
| 1 | g.146018085T= | CA1198820838 | HJV | c.1273A= (p.Ile425=) c.595A= (p.Ile199=) c.934A= (p.Ile312=) | |
| 1 | g.146018086G>A | CA420249952 | HJV | c.1272C>T (p.Cys424=) c.594C>T (p.Cys198=) c.933C>T (p.Cys311=) | |
| 1 | g.146018086G>C | CA342131121 | HJV | c.1272C>G (p.Cys424Trp) c.594C>G (p.Cys198Trp) c.933C>G (p.Cys311Trp) | |
| 1 | g.146018086G>T | CA342131127 | HJV | c.1272C>A (p.Cys424Ter) c.594C>A (p.Cys198Ter) c.933C>A (p.Cys311Ter) | |
| 1 | g.146018087C>A | CA342131138 | HJV | c.1271G>T (p.Cys424Phe) c.593G>T (p.Cys198Phe) c.932G>T (p.Cys311Phe) | |
| 1 | g.146018087C>G | CA342131145 | HJV | c.1271G>C (p.Cys424Ser) c.593G>C (p.Cys198Ser) c.932G>C (p.Cys311Ser) | gnomAD v4 |
| 1 | g.146018087C>T | CA342131143 | HJV | c.1271G>A (p.Cys424Tyr) c.593G>A (p.Cys198Tyr) c.932G>A (p.Cys311Tyr) | |
| 1 | g.146018088A>C | CA342131148 | HJV | c.1270T>G (p.Cys424Gly) c.592T>G (p.Cys198Gly) c.931T>G (p.Cys311Gly) | |
| 1 | g.146018088A>G | CA342131150 | HJV | c.1270T>C (p.Cys424Arg) c.592T>C (p.Cys198Arg) c.931T>C (p.Cys311Arg) | |
| 1 | g.146018088A>T | CA342131151 | HJV | c.1270T>A (p.Cys424Ser) c.592T>A (p.Cys198Ser) c.931T>A (p.Cys311Ser) | |
| 1 | g.146018089A>C | CA420249960 | HJV | c.1269T>G (p.Leu423=) c.591T>G (p.Leu197=) c.930T>G (p.Leu310=) | |
| 1 | g.146018089A>G | CA420249959 | HJV | c.1269T>C (p.Leu423=) c.591T>C (p.Leu197=) c.930T>C (p.Leu310=) | |
| 1 | g.146018089A>T | CA420249962 | HJV | c.1269T>A (p.Leu423=) c.591T>A (p.Leu197=) c.930T>A (p.Leu310=) | |
| 1 | g.146018090A>C | CA342131155 | HJV | c.1268T>G (p.Leu423Arg) c.590T>G (p.Leu197Arg) c.929T>G (p.Leu310Arg) | |
| 1 | g.146018090A>G | CA342131160 | HJV | c.1268T>C (p.Leu423Pro) c.590T>C (p.Leu197Pro) c.929T>C (p.Leu310Pro) | |
| 1 | g.146018090A>T | CA342131165 | HJV | c.1268T>A (p.Leu423His) c.590T>A (p.Leu197His) c.929T>A (p.Leu310His) | |
| 1 | g.146018091G>A | CA342131172 | HJV | c.1267C>T (p.Leu423Phe) c.589C>T (p.Leu197Phe) c.928C>T (p.Leu310Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018091G>C | CA342131176 | HJV | c.1267C>G (p.Leu423Val) c.589C>G (p.Leu197Val) c.928C>G (p.Leu310Val) | |
| 1 | g.146018091G= | CA1198820839 | HJV | c.1267C= (p.Leu423=) c.589C= (p.Leu197=) c.928C= (p.Leu310=) | |
| 1 | g.146018091G>T | CA342131188 | HJV | c.1267C>A (p.Leu423Ile) c.589C>A (p.Leu197Ile) c.928C>A (p.Leu310Ile) | dbSNP |
| 1 | g.146018092C>A | CA342131192 | HJV | c.1266G>T (p.Trp422Cys) c.588G>T (p.Trp196Cys) c.927G>T (p.Trp309Cys) | |
| 1 | g.146018092C= | CA1198820840 | HJV | c.1266G= (p.Trp422=) c.588G= (p.Trp196=) c.927G= (p.Trp309=) | |
| 1 | g.146018092C>G | CA1053993 | HJV | c.1266G>C (p.Trp422Cys) c.588G>C (p.Trp196Cys) c.927G>C (p.Trp309Cys) | dbSNP ExAC gnomAD v4 |
| 1 | g.146018092C>T | CA342131197 | HJV | c.1266G>A (p.Trp422Ter) c.588G>A (p.Trp196Ter) c.927G>A (p.Trp309Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.146018093C>A | CA342131221 | HJV | c.1265G>T (p.Trp422Leu) c.587G>T (p.Trp196Leu) c.926G>T (p.Trp309Leu) | |
| 1 | g.146018093C>G | CA342131206 | HJV | c.1265G>C (p.Trp422Ser) c.587G>C (p.Trp196Ser) c.926G>C (p.Trp309Ser) | |
| 1 | g.146018093C>T | CA342131209 | HJV | c.1265G>A (p.Trp422Ter) c.587G>A (p.Trp196Ter) c.926G>A (p.Trp309Ter) | |
| 1 | g.146018094A= | CA1198820841 | HJV | c.1264T= (p.Trp422=) c.586T= (p.Trp196=) c.925T= (p.Trp309=) | |
| 1 | g.146018094A>C | CA342131224 | HJV | c.1264T>G (p.Trp422Gly) c.586T>G (p.Trp196Gly) c.925T>G (p.Trp309Gly) | |
| 1 | g.146018094A>G | CA339451 | HJV | c.1264T>C (p.Trp422Arg) c.586T>C (p.Trp196Arg) c.925T>C (p.Trp309Arg) | ClinVar dbSNP gnomAD v4 |
| 1 | g.146018094A>T | CA342131240 | HJV | c.1264T>A (p.Trp422Arg) c.586T>A (p.Trp196Arg) c.925T>A (p.Trp309Arg) | |
| 1 | g.146018095C>A | CA420249974 | HJV | c.1263G>T (p.Leu421=) c.585G>T (p.Leu195=) c.924G>T (p.Leu308=) | |
| 1 | g.146018095C>G | CA420249977 | HJV | c.1263G>C (p.Leu421=) c.585G>C (p.Leu195=) c.924G>C (p.Leu308=) | |
| 1 | g.146018095C>T | CA420249976 | HJV | c.1263G>A (p.Leu421=) c.585G>A (p.Leu195=) c.924G>A (p.Leu308=) | |
| 1 | g.146018096A>C | CA342131247 | HJV | c.1262T>G (p.Leu421Arg) c.584T>G (p.Leu195Arg) c.923T>G (p.Leu308Arg) | gnomAD v4 |
| 1 | g.146018096A>G | CA342131248 | HJV | c.1262T>C (p.Leu421Pro) c.584T>C (p.Leu195Pro) c.923T>C (p.Leu308Pro) | |
| 1 | g.146018096A>T | CA342131250 | HJV | c.1262T>A (p.Leu421Gln) c.584T>A (p.Leu195Gln) c.923T>A (p.Leu308Gln) | |
| 1 | g.146018097G>A | CA420249981 | HJV | c.1261C>T (p.Leu421=) c.583C>T (p.Leu195=) c.922C>T (p.Leu308=) | |
| 1 | g.146018097G>C | CA342131251 | HJV | c.1261C>G (p.Leu421Val) c.583C>G (p.Leu195Val) c.922C>G (p.Leu308Val) | |
| 1 | g.146018097G>T | CA342131255 | HJV | c.1261C>A (p.Leu421Met) c.583C>A (p.Leu195Met) c.922C>A (p.Leu308Met) | |
| 1 | g.146018098A>C | CA420249985 | HJV | c.1260T>G (p.Val420=) c.582T>G (p.Val194=) c.921T>G (p.Val307=) | |
| 1 | g.146018098A>G | CA420249984 | HJV | c.1260T>C (p.Val420=) c.582T>C (p.Val194=) c.921T>C (p.Val307=) | ClinVar gnomAD v4 |
| 1 | g.146018098A>T | CA420249983 | HJV | c.1260T>A (p.Val420=) c.582T>A (p.Val194=) c.921T>A (p.Val307=) | |
| 1 | g.146018099A>C | CA342131259 | HJV | c.1259T>G (p.Val420Gly) c.581T>G (p.Val194Gly) c.920T>G (p.Val307Gly) | |
| 1 | g.146018099A>G | CA342131261 | HJV | c.1259T>C (p.Val420Ala) c.581T>C (p.Val194Ala) c.920T>C (p.Val307Ala) | |
| 1 | g.146018099A>T | CA342131263 | HJV | c.1259T>A (p.Val420Asp) c.581T>A (p.Val194Asp) c.920T>A (p.Val307Asp) | |
| 1 | g.146018100C>A | CA342131274 | HJV | c.1258G>T (p.Val420Phe) c.580G>T (p.Val194Phe) c.919G>T (p.Val307Phe) | gnomAD v4 |
| 1 | g.146018100C>G | CA342131270 | HJV | c.1258G>C (p.Val420Leu) c.580G>C (p.Val194Leu) c.919G>C (p.Val307Leu) | |
| 1 | g.146018100C>T | CA342131267 | HJV | c.1258G>A (p.Val420Ile) c.580G>A (p.Val194Ile) c.919G>A (p.Val307Ile) | |
| 1 | g.146018100_146018102delinsCAA | CA1198820842 | HJV | c.1256_1258delinsTTG (p.Phe419=) c.578_580delinsTTG (p.Phe193=) c.917_919delinsTTG (p.Phe306=) | |
| 1 | g.146018101A= | CA1198820843 | HJV | c.1257T= (p.Phe419=) c.579T= (p.Phe193=) c.918T= (p.Phe306=) | |
| 1 | g.146018101A>C | CA1053992 | HJV | c.1257T>G (p.Phe419Leu) c.579T>G (p.Phe193Leu) c.918T>G (p.Phe306Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018101A>G | CA29822713 | HJV | c.1257T>C (p.Phe419=) c.579T>C (p.Phe193=) c.918T>C (p.Phe306=) | gnomAD v4 |
| 1 | g.146018101A>T | CA29822736 | HJV | c.1257T>A (p.Phe419Leu) c.579T>A (p.Phe193Leu) c.918T>A (p.Phe306Leu) | |
| 1 | g.146018102_146018103del | CA526254186 | HJV | c.1256_1257del (p.Phe419CysfsTer20) c.578_579del (p.Phe193CysfsTer20) c.917_918del (p.Phe306CysfsTer20) | dbSNP gnomAD v2 |
| 1 | g.146018102A>C | CA342131320 | HJV | c.1256T>G (p.Phe419Cys) c.578T>G (p.Phe193Cys) c.917T>G (p.Phe306Cys) | |
| 1 | g.146018102A>G | CA342131324 | HJV | c.1256T>C (p.Phe419Ser) c.578T>C (p.Phe193Ser) c.917T>C (p.Phe306Ser) | |
| 1 | g.146018102A>T | CA342131332 | HJV | c.1256T>A (p.Phe419Tyr) c.578T>A (p.Phe193Tyr) c.917T>A (p.Phe306Tyr) | |
| 1 | g.146018103A>C | CA342131361 | HJV | c.1255T>G (p.Phe419Val) c.577T>G (p.Phe193Val) c.916T>G (p.Phe306Val) | |
| 1 | g.146018103A>G | CA342131353 | HJV | c.1255T>C (p.Phe419Leu) c.577T>C (p.Phe193Leu) c.916T>C (p.Phe306Leu) | |
| 1 | g.146018103A>T | CA342131346 | HJV | c.1255T>A (p.Phe419Ile) c.577T>A (p.Phe193Ile) c.916T>A (p.Phe306Ile) | |
| 1 | g.146018104G>A | CA420249988 | HJV | c.1254C>T (p.Leu418=) c.576C>T (p.Leu192=) c.915C>T (p.Leu305=) | |
| 1 | g.146018104G>C | CA10607999 | HJV | c.1254C>G (p.Leu418=) c.576C>G (p.Leu192=) c.915C>G (p.Leu305=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.146018104G= | CA1198820844 | HJV | c.1254C= (p.Leu418=) c.576C= (p.Leu192=) c.915C= (p.Leu305=) | |
| 1 | g.146018104G>T | CA420249987 | HJV | c.1254C>A (p.Leu418=) c.576C>A (p.Leu192=) c.915C>A (p.Leu305=) | |
| 1 | g.146018105A>C | CA342131367 | HJV | c.1253T>G (p.Leu418Arg) c.575T>G (p.Leu192Arg) c.914T>G (p.Leu305Arg) | |
| 1 | g.146018105A>G | CA342131368 | HJV | c.1253T>C (p.Leu418Pro) c.575T>C (p.Leu192Pro) c.914T>C (p.Leu305Pro) | |
| 1 | g.146018105A>T | CA342131369 | HJV | c.1253T>A (p.Leu418His) c.575T>A (p.Leu192His) c.914T>A (p.Leu305His) | |
| 1 | g.146018106G>A | CA342131372 | HJV | c.1252C>T (p.Leu418Phe) c.574C>T (p.Leu192Phe) c.913C>T (p.Leu305Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.146018106G>C | CA29822764 | HJV | c.1252C>G (p.Leu418Val) c.574C>G (p.Leu192Val) c.913C>G (p.Leu305Val) | gnomAD v4 |
| 1 | g.146018106G= | CA1143440673 | HJV | c.1252C= (p.Leu418=) c.574C= (p.Leu192=) c.913C= (p.Leu305=) | |
| 1 | g.146018106G>T | CA29822773 | HJV | c.1252C>A (p.Leu418Ile) c.574C>A (p.Leu192Ile) c.913C>A (p.Leu305Ile) | gnomAD v4 |
| 1 | g.146018107C>A | CA420249989 | HJV | c.1251G>T (p.Gly417=) c.573G>T (p.Gly191=) c.912G>T (p.Gly304=) | |
| 1 | g.146018107C>G | CA420249990 | HJV | c.1251G>C (p.Gly417=) c.573G>C (p.Gly191=) c.912G>C (p.Gly304=) | |
| 1 | g.146018107C>T | CA420249991 | HJV | c.1251G>A (p.Gly417=) c.573G>A (p.Gly191=) c.912G>A (p.Gly304=) | |
| 1 | g.146018108C>A | CA342131375 | HJV | c.1250G>T (p.Gly417Val) c.572G>T (p.Gly191Val) c.911G>T (p.Gly304Val) | |
| 1 | g.146018108C>G | CA342131378 | HJV | c.1250G>C (p.Gly417Ala) c.572G>C (p.Gly191Ala) c.911G>C (p.Gly304Ala) | |
| 1 | g.146018108C>T | CA342131376 | HJV | c.1250G>A (p.Gly417Glu) c.572G>A (p.Gly191Glu) c.911G>A (p.Gly304Glu) | gnomAD v4 |
| 1 | g.146018109C>A | CA29822789 | HJV | c.1249G>T (p.Gly417Trp) c.571G>T (p.Gly191Trp) c.910G>T (p.Gly304Trp) | |
| 1 | g.146018109C= | CA1198820845 | HJV | c.1249G= (p.Gly417=) c.571G= (p.Gly191=) c.910G= (p.Gly304=) | |
| 1 | g.146018109C>G | CA1053991 | HJV | c.1249G>C (p.Gly417Arg) c.571G>C (p.Gly191Arg) c.910G>C (p.Gly304Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018109C>T | CA1053990 | HJV | c.1249G>A (p.Gly417Arg) c.571G>A (p.Gly191Arg) c.910G>A (p.Gly304Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018110A>C | CA420249995 | HJV | c.1248T>G (p.Ser416=) c.570T>G (p.Ser190=) c.909T>G (p.Ser303=) | |
| 1 | g.146018110A>G | CA420249996 | HJV | c.1248T>C (p.Ser416=) c.570T>C (p.Ser190=) c.909T>C (p.Ser303=) | ClinVar |
| 1 | g.146018110A>T | CA420249998 | HJV | c.1248T>A (p.Ser416=) c.570T>A (p.Ser190=) c.909T>A (p.Ser303=) | |
| 1 | g.146018111G>A | CA342131384 | HJV | c.1247C>T (p.Ser416Phe) c.569C>T (p.Ser190Phe) c.908C>T (p.Ser303Phe) | |
| 1 | g.146018111G>C | CA342131386 | HJV | c.1247C>G (p.Ser416Cys) c.569C>G (p.Ser190Cys) c.908C>G (p.Ser303Cys) | |
| 1 | g.146018111G>T | CA342131388 | HJV | c.1247C>A (p.Ser416Tyr) c.569C>A (p.Ser190Tyr) c.908C>A (p.Ser303Tyr) | COSMIC |
| 1 | g.146018112A= | CA1148129812 | HJV | c.1246T= (p.Ser416=) c.568T= (p.Ser190=) c.907T= (p.Ser303=) | |
| 1 | g.146018112A>C | CA342131389 | HJV | c.1246T>G (p.Ser416Ala) c.568T>G (p.Ser190Ala) c.907T>G (p.Ser303Ala) | |
| 1 | g.146018112A>G | CA1053989 | HJV | c.1246T>C (p.Ser416Pro) c.568T>C (p.Ser190Pro) c.907T>C (p.Ser303Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018112A>T | CA342131400 | HJV | c.1246T>A (p.Ser416Thr) c.568T>A (p.Ser190Thr) c.907T>A (p.Ser303Thr) | |
| 1 | g.146018113A>C | CA420250002 | HJV | c.1245T>G (p.Leu415=) c.567T>G (p.Leu189=) c.906T>G (p.Leu302=) | gnomAD v4 |
| 1 | g.146018113A>G | CA420250001 | HJV | c.1245T>C (p.Leu415=) c.567T>C (p.Leu189=) c.906T>C (p.Leu302=) | |
| 1 | g.146018113A>T | CA420250003 | HJV | c.1245T>A (p.Leu415=) c.567T>A (p.Leu189=) c.906T>A (p.Leu302=) | |
| 1 | g.146018114A>C | CA342131403 | HJV | c.1244T>G (p.Leu415Arg) c.566T>G (p.Leu189Arg) c.905T>G (p.Leu302Arg) | |
| 1 | g.146018114A>G | CA342131405 | HJV | c.1244T>C (p.Leu415Pro) c.566T>C (p.Leu189Pro) c.905T>C (p.Leu302Pro) | |
| 1 | g.146018114A>T | CA342131408 | HJV | c.1244T>A (p.Leu415His) c.566T>A (p.Leu189His) c.905T>A (p.Leu302His) | |
| 1 | g.146018115G>A | CA342131410 | HJV | c.1243C>T (p.Leu415Phe) c.565C>T (p.Leu189Phe) c.904C>T (p.Leu302Phe) | gnomAD v4 COSMIC |
| 1 | g.146018115G>C | CA342131412 | HJV | c.1243C>G (p.Leu415Val) c.565C>G (p.Leu189Val) c.904C>G (p.Leu302Val) | |
| 1 | g.146018115G>T | CA342131411 | HJV | c.1243C>A (p.Leu415Ile) c.565C>A (p.Leu189Ile) c.904C>A (p.Leu302Ile) | |
| 1 | g.146018116G>A | CA420250004 | HJV | c.1242C>T (p.Leu414=) c.564C>T (p.Leu188=) c.903C>T (p.Leu301=) | |
| 1 | g.146018116G>C | CA420250006 | HJV | c.1242C>G (p.Leu414=) c.564C>G (p.Leu188=) c.903C>G (p.Leu301=) | |
| 1 | g.146018116G>T | CA420250005 | HJV | c.1242C>A (p.Leu414=) c.564C>A (p.Leu188=) c.903C>A (p.Leu301=) | |
| 1 | g.146018117A>C | CA342131418 | HJV | c.1241T>G (p.Leu414Arg) c.563T>G (p.Leu188Arg) c.902T>G (p.Leu301Arg) | gnomAD v4 |
| 1 | g.146018117A>G | CA342131420 | HJV | c.1241T>C (p.Leu414Pro) c.563T>C (p.Leu188Pro) c.902T>C (p.Leu301Pro) | gnomAD v4 |
| 1 | g.146018117A>T | CA342131448 | HJV | c.1241T>A (p.Leu414His) c.563T>A (p.Leu188His) c.902T>A (p.Leu301His) | |
| 1 | g.146018118G>A | CA342131452 | HJV | c.1240C>T (p.Leu414Phe) c.562C>T (p.Leu188Phe) c.901C>T (p.Leu301Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018118G>C | CA342131454 | HJV | c.1240C>G (p.Leu414Val) c.562C>G (p.Leu188Val) c.901C>G (p.Leu301Val) | |
| 1 | g.146018118G= | CA1198820846 | HJV | c.1240C= (p.Leu414=) c.562C= (p.Leu188=) c.901C= (p.Leu301=) | |
| 1 | g.146018118G>T | CA342131457 | HJV | c.1240C>A (p.Leu414Ile) c.562C>A (p.Leu188Ile) c.901C>A (p.Leu301Ile) | |
| 1 | g.146018119T>A | CA420250012 | HJV | c.1239A>T (p.Pro413=) c.561A>T (p.Pro187=) c.900A>T (p.Pro300=) | |
| 1 | g.146018119T>C | CA420250015 | HJV | c.1239A>G (p.Pro413=) c.561A>G (p.Pro187=) c.900A>G (p.Pro300=) | |
| 1 | g.146018119T>G | CA420250014 | HJV | c.1239A>C (p.Pro413=) c.561A>C (p.Pro187=) c.900A>C (p.Pro300=) | |
| 1 | g.146018120G>A | CA342131461 | HJV | c.1238C>T (p.Pro413Leu) c.560C>T (p.Pro187Leu) c.899C>T (p.Pro300Leu) | ClinVar dbSNP |
| 1 | g.146018120G>C | CA342131462 | HJV | c.1238C>G (p.Pro413Arg) c.560C>G (p.Pro187Arg) c.899C>G (p.Pro300Arg) | |
| 1 | g.146018120G>T | CA342131465 | HJV | c.1238C>A (p.Pro413Gln) c.560C>A (p.Pro187Gln) c.899C>A (p.Pro300Gln) | |
| 1 | g.146018121G>A | CA1053988 | HJV | c.1237C>T (p.Pro413Ser) c.559C>T (p.Pro187Ser) c.898C>T (p.Pro300Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018121G>C | CA29822800 | HJV | c.1237C>G (p.Pro413Ala) c.559C>G (p.Pro187Ala) c.898C>G (p.Pro300Ala) | |
| 1 | g.146018121G= | CA1148212947 | HJV | c.1237C= (p.Pro413=) c.559C= (p.Pro187=) c.898C= (p.Pro300=) | |
| 1 | g.146018121G>T | CA29822801 | HJV | c.1237C>A (p.Pro413Thr) c.559C>A (p.Pro187Thr) c.898C>A (p.Pro300Thr) | |
| 1 | g.146018122A>C | CA420250016 | HJV | c.1236T>G (p.Ala412=) c.558T>G (p.Ala186=) c.897T>G (p.Ala299=) | |
| 1 | g.146018122A>G | CA420250018 | HJV | c.1236T>C (p.Ala412=) c.558T>C (p.Ala186=) c.897T>C (p.Ala299=) | |
| 1 | g.146018122A>T | CA420250017 | HJV | c.1236T>A (p.Ala412=) c.558T>A (p.Ala186=) c.897T>A (p.Ala299=) | |
| 1 | g.146018123G>A | CA342131485 | HJV | c.1235C>T (p.Ala412Val) c.557C>T (p.Ala186Val) c.896C>T (p.Ala299Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018123G>C | CA342131484 | HJV | c.1235C>G (p.Ala412Gly) c.557C>G (p.Ala186Gly) c.896C>G (p.Ala299Gly) | |
| 1 | g.146018123G= | CA1198820847 | HJV | c.1235C= (p.Ala412=) c.557C= (p.Ala186=) c.896C= (p.Ala299=) | |
| 1 | g.146018123G>T | CA342131483 | HJV | c.1235C>A (p.Ala412Asp) c.557C>A (p.Ala186Asp) c.896C>A (p.Ala299Asp) | |
| 1 | g.146018124C>A | CA29822803 | HJV | c.1234G>T (p.Ala412Ser) c.556G>T (p.Ala186Ser) c.895G>T (p.Ala299Ser) | |
| 1 | g.146018124C= | CA1198820848 | HJV | c.1234G= (p.Ala412=) c.556G= (p.Ala186=) c.895G= (p.Ala299=) | |
| 1 | g.146018124C>G | CA1053987 | HJV | c.1234G>C (p.Ala412Pro) c.556G>C (p.Ala186Pro) c.895G>C (p.Ala299Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018124C>T | CA1053986 | HJV | c.1234G>A (p.Ala412Thr) c.556G>A (p.Ala186Thr) c.895G>A (p.Ala299Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018125T>A | CA342131487 | HJV | c.1233A>T (p.Leu411Phe) c.555A>T (p.Leu185Phe) c.894A>T (p.Leu298Phe) | |
| 1 | g.146018125T>C | CA420250023 | HJV | c.1233A>G (p.Leu411=) c.555A>G (p.Leu185=) c.894A>G (p.Leu298=) | |
| 1 | g.146018125T>G | CA342131493 | HJV | c.1233A>C (p.Leu411Phe) c.555A>C (p.Leu185Phe) c.894A>C (p.Leu298Phe) | |
| 1 | g.146018126A>C | CA342131510 | HJV | c.1232T>G (p.Leu411Ter) c.554T>G (p.Leu185Ter) c.893T>G (p.Leu298Ter) | |
| 1 | g.146018126A>G | CA342131520 | HJV | c.1232T>C (p.Leu411Ser) c.554T>C (p.Leu185Ser) c.893T>C (p.Leu298Ser) | |
| 1 | g.146018126A>T | CA342131523 | HJV | c.1232T>A (p.Leu411Ter) c.554T>A (p.Leu185Ter) c.893T>A (p.Leu298Ter) | |
| 1 | g.146018127A>C | CA342131527 | HJV | c.1231T>G (p.Leu411Val) c.553T>G (p.Leu185Val) c.892T>G (p.Leu298Val) | |
| 1 | g.146018127A>G | CA420250025 | HJV | c.1231T>C (p.Leu411=) c.553T>C (p.Leu185=) c.892T>C (p.Leu298=) | |
| 1 | g.146018127A>T | CA342131539 | HJV | c.1231T>A (p.Leu411Ile) c.553T>A (p.Leu185Ile) c.892T>A (p.Leu298Ile) | |
| 1 | g.146018128G>A | CA420250028 | HJV | c.1230C>T (p.Leu410=) c.552C>T (p.Leu184=) c.891C>T (p.Leu297=) | |
| 1 | g.146018128G>C | CA420250030 | HJV | c.1230C>G (p.Leu410=) c.552C>G (p.Leu184=) c.891C>G (p.Leu297=) | |
| 1 | g.146018128G>T | CA420250029 | HJV | c.1230C>A (p.Leu410=) c.552C>A (p.Leu184=) c.891C>A (p.Leu297=) | |
| 1 | g.146018129A= | CA1198820849 | HJV | c.1229T= (p.Leu410=) c.551T= (p.Leu184=) c.890T= (p.Leu297=) | |
| 1 | g.146018129A>C | CA342131544 | HJV | c.1229T>G (p.Leu410Arg) c.551T>G (p.Leu184Arg) c.890T>G (p.Leu297Arg) | |
| 1 | g.146018129A>G | CA342131558 | HJV | c.1229T>C (p.Leu410Pro) c.551T>C (p.Leu184Pro) c.890T>C (p.Leu297Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018129A>T | CA342131578 | HJV | c.1229T>A (p.Leu410His) c.551T>A (p.Leu184His) c.890T>A (p.Leu297His) | gnomAD v4 |
| 1 | g.146018130G>A | CA342131592 | HJV | c.1228C>T (p.Leu410Phe) c.550C>T (p.Leu184Phe) c.889C>T (p.Leu297Phe) | |
| 1 | g.146018130G>C | CA342131588 | HJV | c.1228C>G (p.Leu410Val) c.550C>G (p.Leu184Val) c.889C>G (p.Leu297Val) | |
| 1 | g.146018130G>T | CA342131587 | HJV | c.1228C>A (p.Leu410Ile) c.550C>A (p.Leu184Ile) c.889C>A (p.Leu297Ile) | |
| 1 | g.146018131G>A | CA1053984 | HJV | c.1227C>T (p.Thr409=) c.549C>T (p.Thr183=) c.888C>T (p.Thr296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018131G>C | CA29822839 | HJV | c.1227C>G (p.Thr409=) c.549C>G (p.Thr183=) c.888C>G (p.Thr296=) | |
| 1 | g.146018131G= | CA1198820850 | HJV | c.1227C= (p.Thr409=) c.549C= (p.Thr183=) c.888C= (p.Thr296=) | |
| 1 | g.146018131G>T | CA1053985 | HJV | c.1227C>A (p.Thr409=) c.549C>A (p.Thr183=) c.888C>A (p.Thr296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018132G>A | CA29822849 | HJV | c.1226C>T (p.Thr409Ile) c.548C>T (p.Thr183Ile) c.887C>T (p.Thr296Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.146018132G>C | CA342131610 | HJV | c.1226C>G (p.Thr409Ser) c.548C>G (p.Thr183Ser) c.887C>G (p.Thr296Ser) | |
| 1 | g.146018132G= | CA1198820851 | HJV | c.1226C= (p.Thr409=) c.548C= (p.Thr183=) c.887C= (p.Thr296=) | |
| 1 | g.146018132G>T | CA342131606 | HJV | c.1226C>A (p.Thr409Asn) c.548C>A (p.Thr183Asn) c.887C>A (p.Thr296Asn) | |
| 1 | g.146018133T>A | CA342131613 | HJV | c.1225A>T (p.Thr409Ser) c.547A>T (p.Thr183Ser) c.886A>T (p.Thr296Ser) | |
| 1 | g.146018133T>C | CA342131634 | HJV | c.1225A>G (p.Thr409Ala) c.547A>G (p.Thr183Ala) c.886A>G (p.Thr296Ala) | |
| 1 | g.146018133T>G | CA342131616 | HJV | c.1225A>C (p.Thr409Pro) c.547A>C (p.Thr183Pro) c.886A>C (p.Thr296Pro) | |
| 1 | g.146018134T>A | CA420250040 | HJV | c.1224A>T (p.Ala408=) c.546A>T (p.Ala182=) c.885A>T (p.Ala295=) | |
| 1 | g.146018134T>C | CA29822855 | HJV | c.1224A>G (p.Ala408=) c.546A>G (p.Ala182=) c.885A>G (p.Ala295=) | dbSNP |
| 1 | g.146018134T>G | CA420250039 | HJV | c.1224A>C (p.Ala408=) c.546A>C (p.Ala182=) c.885A>C (p.Ala295=) | |
| 1 | g.146018134T= | CA1198820852 | HJV | c.1224A= (p.Ala408=) c.546A= (p.Ala182=) c.885A= (p.Ala295=) | |
| 1 | g.146018135G>A | CA1053983 | HJV | c.1223C>T (p.Ala408Val) c.545C>T (p.Ala182Val) c.884C>T (p.Ala295Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018135G>C | CA29822862 | HJV | c.1223C>G (p.Ala408Gly) c.545C>G (p.Ala182Gly) c.884C>G (p.Ala295Gly) | |
| 1 | g.146018135G= | CA1143488885 | HJV | c.1223C= (p.Ala408=) c.545C= (p.Ala182=) c.884C= (p.Ala295=) | |
| 1 | g.146018135G>T | CA29822867 | HJV | c.1223C>A (p.Ala408Glu) c.545C>A (p.Ala182Glu) c.884C>A (p.Ala295Glu) | |
| 1 | g.146018136C>A | CA342131666 | HJV | c.1222G>T (p.Ala408Ser) c.544G>T (p.Ala182Ser) c.883G>T (p.Ala295Ser) | |
| 1 | g.146018136C= | CA1198820853 | HJV | c.1222G= (p.Ala408=) c.544G= (p.Ala182=) c.883G= (p.Ala295=) | |
| 1 | g.146018136C>G | CA342131674 | HJV | c.1222G>C (p.Ala408Pro) c.544G>C (p.Ala182Pro) c.883G>C (p.Ala295Pro) | |
| 1 | g.146018136C>T | CA342131700 | HJV | c.1222G>A (p.Ala408Thr) c.544G>A (p.Ala182Thr) c.883G>A (p.Ala295Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018137T>A | CA420250048 | HJV | c.1221A>T (p.Ser407=) c.543A>T (p.Ser181=) c.882A>T (p.Ser294=) | |
| 1 | g.146018137T>C | CA420250043 | HJV | c.1221A>G (p.Ser407=) c.543A>G (p.Ser181=) c.882A>G (p.Ser294=) | gnomAD v4 |
| 1 | g.146018137T>G | CA420250049 | HJV | c.1221A>C (p.Ser407=) c.543A>C (p.Ser181=) c.882A>C (p.Ser294=) | |
| 1 | g.146018138G>A | CA342131709 | HJV | c.1220C>T (p.Ser407Leu) c.542C>T (p.Ser181Leu) c.881C>T (p.Ser294Leu) | gnomAD v4 |
| 1 | g.146018138G>C | CA342131722 | HJV | c.1220C>G (p.Ser407Ter) c.542C>G (p.Ser181Ter) c.881C>G (p.Ser294Ter) | |
| 1 | g.146018138G>T | CA342131727 | HJV | c.1220C>A (p.Ser407Ter) c.542C>A (p.Ser181Ter) c.881C>A (p.Ser294Ter) | |
| 1 | g.146018139A>C | CA342131739 | HJV | c.1219T>G (p.Ser407Ala) c.541T>G (p.Ser181Ala) c.880T>G (p.Ser294Ala) | gnomAD v4 |
| 1 | g.146018139A>G | CA342131751 | HJV | c.1219T>C (p.Ser407Pro) c.541T>C (p.Ser181Pro) c.880T>C (p.Ser294Pro) | |
| 1 | g.146018139A>T | CA342131763 | HJV | c.1219T>A (p.Ser407Thr) c.541T>A (p.Ser181Thr) c.880T>A (p.Ser294Thr) | |
| 1 | g.146018140_146018143del | CA915940565 | HJV | c.1216_1219del (p.Ser406GlnfsTer5) c.538_541del (p.Ser180GlnfsTer5) c.877_880del (p.Ser293GlnfsTer5) | |
| 1 | g.146018140G>A | CA420250054 | HJV | c.1218C>T (p.Ser406=) c.540C>T (p.Ser180=) c.879C>T (p.Ser293=) | |
| 1 | g.146018140G>C | CA420250056 | HJV | c.1218C>G (p.Ser406=) c.540C>G (p.Ser180=) c.879C>G (p.Ser293=) | |
| 1 | g.146018140G>T | CA420250055 | HJV | c.1218C>A (p.Ser406=) c.540C>A (p.Ser180=) c.879C>A (p.Ser293=) |