Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.119413800_119413801delinsAT | CA1396548435 | ARHGAP31 | c.1927-56_1927-55delinsAT (n.1927-56_1927-55delinsAT) c.1834-56_1834-55delinsAT (n.1834-56_1834-55delinsAT) c.1867-56_1867-55delinsAT (n.1867-56_1867-55delinsAT) c.1435-56_1435-55delinsAT (n.1435-56_1435-55delinsAT) | |
3 | g.119413801del | CA545960928 | ARHGAP31 | c.1927-55del (n.1927-55del) c.1834-55del (n.1834-55del) c.1867-55del (n.1867-55del) c.1435-55del (n.1435-55del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413801T>A | CA2667110252 | ARHGAP31 | c.1927-55T>A (n.1927-55T>A) c.1834-55T>A (n.1834-55T>A) c.1867-55T>A (n.1867-55T>A) c.1435-55T>A (n.1435-55T>A) | gnomAD v4 |
3 | g.119413801T>C | CA2667110253 | ARHGAP31 | c.1927-55T>C (n.1927-55T>C) c.1834-55T>C (n.1834-55T>C) c.1867-55T>C (n.1867-55T>C) c.1435-55T>C (n.1435-55T>C) | gnomAD v4 |
3 | g.119413802G>T | CA2840618631 | ARHGAP31 | c.1927-54G>T (n.1927-54G>T) c.1834-54G>T (n.1834-54G>T) c.1867-54G>T (n.1867-54G>T) c.1435-54G>T (n.1435-54G>T) | |
3 | g.119413803T>A | CA2667110254 | ARHGAP31 | c.1927-53T>A (n.1927-53T>A) c.1834-53T>A (n.1834-53T>A) c.1867-53T>A (n.1867-53T>A) c.1435-53T>A (n.1435-53T>A) | gnomAD v4 |
3 | g.119413804C>A | CA2667110255 | ARHGAP31 | c.1927-52C>A (n.1927-52C>A) c.1834-52C>A (n.1834-52C>A) c.1867-52C>A (n.1867-52C>A) c.1435-52C>A (n.1435-52C>A) | gnomAD v4 |
3 | g.119413804C>G | CA2667110256 | ARHGAP31 | c.1927-52C>G (n.1927-52C>G) c.1834-52C>G (n.1834-52C>G) c.1867-52C>G (n.1867-52C>G) c.1435-52C>G (n.1435-52C>G) | gnomAD v4 |
3 | g.119413808A= | CA1396548436 | ARHGAP31 | c.1927-48A= (n.1927-48A=) c.1834-48A= (n.1834-48A=) c.1867-48A= (n.1867-48A=) c.1435-48A= (n.1435-48A=) | |
3 | g.119413808A>C | CA545960929 | ARHGAP31 | c.1927-48A>C (n.1927-48A>C) c.1834-48A>C (n.1834-48A>C) c.1867-48A>C (n.1867-48A>C) c.1435-48A>C (n.1435-48A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413808A>G | CA2553940 | ARHGAP31 | c.1927-48A>G (n.1927-48A>G) c.1834-48A>G (n.1834-48A>G) c.1867-48A>G (n.1867-48A>G) c.1435-48A>G (n.1435-48A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413808A>T | CA2839816716 | ARHGAP31 | c.1927-48A>T (n.1927-48A>T) c.1834-48A>T (n.1834-48A>T) c.1867-48A>T (n.1867-48A>T) c.1435-48A>T (n.1435-48A>T) | |
3 | g.119413811dup | CA1052740000 | ARHGAP31 | c.1927-45dup (n.1927-45dup) c.1834-45dup (n.1834-45dup) c.1867-45dup (n.1867-45dup) c.1435-45dup (n.1435-45dup) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119413810C>T | CA2667110257 | ARHGAP31 | c.1927-46C>T (n.1927-46C>T) c.1834-46C>T (n.1834-46C>T) c.1867-46C>T (n.1867-46C>T) c.1435-46C>T (n.1435-46C>T) | gnomAD v4 |
3 | g.119413811C>A | CA2519458858 | ARHGAP31 | c.1927-45C>A (n.1927-45C>A) c.1834-45C>A (n.1834-45C>A) c.1867-45C>A (n.1867-45C>A) c.1435-45C>A (n.1435-45C>A) | gnomAD v4 |
3 | g.119413814A>G | CA2577942204 | ARHGAP31 | c.1927-42A>G (n.1927-42A>G) c.1834-42A>G (n.1834-42A>G) c.1867-42A>G (n.1867-42A>G) c.1435-42A>G (n.1435-42A>G) | gnomAD v4 |
3 | g.119413815G>A | CA2553941 | ARHGAP31 | c.1927-41G>A (n.1927-41G>A) c.1834-41G>A (n.1834-41G>A) c.1867-41G>A (n.1867-41G>A) c.1435-41G>A (n.1435-41G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413815G>C | CA897778840 | ARHGAP31 | c.1927-41G>C (n.1927-41G>C) c.1834-41G>C (n.1834-41G>C) c.1867-41G>C (n.1867-41G>C) c.1435-41G>C (n.1435-41G>C) | dbSNP |
3 | g.119413815G= | CA1396548437 | ARHGAP31 | c.1927-41G= (n.1927-41G=) c.1834-41G= (n.1834-41G=) c.1867-41G= (n.1867-41G=) c.1435-41G= (n.1435-41G=) | |
3 | g.119413818C>T | CA2577942205 | ARHGAP31 | c.1927-38C>T (n.1927-38C>T) c.1834-38C>T (n.1834-38C>T) c.1867-38C>T (n.1867-38C>T) c.1435-38C>T (n.1435-38C>T) | gnomAD v4 |
3 | g.119413819T>C | CA545960930 | ARHGAP31 | c.1927-37T>C (n.1927-37T>C) c.1834-37T>C (n.1834-37T>C) c.1867-37T>C (n.1867-37T>C) c.1435-37T>C (n.1435-37T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413819T>G | CA2667110258 | ARHGAP31 | c.1927-37T>G (n.1927-37T>G) c.1834-37T>G (n.1834-37T>G) c.1867-37T>G (n.1867-37T>G) c.1435-37T>G (n.1435-37T>G) | gnomAD v4 |
3 | g.119413819T= | CA1396548438 | ARHGAP31 | c.1927-37T= (n.1927-37T=) c.1834-37T= (n.1834-37T=) c.1867-37T= (n.1867-37T=) c.1435-37T= (n.1435-37T=) | |
3 | g.119413820T>C | CA2553942 | ARHGAP31 | c.1927-36T>C (n.1927-36T>C) c.1834-36T>C (n.1834-36T>C) c.1867-36T>C (n.1867-36T>C) c.1435-36T>C (n.1435-36T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413820T= | CA1396548439 | ARHGAP31 | c.1927-36T= (n.1927-36T=) c.1834-36T= (n.1834-36T=) c.1867-36T= (n.1867-36T=) c.1435-36T= (n.1435-36T=) | |
3 | g.119413825C>A | CA2577942206 | ARHGAP31 | c.1927-31C>A (n.1927-31C>A) c.1834-31C>A (n.1834-31C>A) c.1867-31C>A (n.1867-31C>A) c.1435-31C>A (n.1435-31C>A) | |
3 | g.119413827A= | CA1396548440 | ARHGAP31 | c.1927-29A= (n.1927-29A=) c.1834-29A= (n.1834-29A=) c.1867-29A= (n.1867-29A=) c.1435-29A= (n.1435-29A=) | |
3 | g.119413827A>G | CA545960931 | ARHGAP31 | c.1927-29A>G (n.1927-29A>G) c.1834-29A>G (n.1834-29A>G) c.1867-29A>G (n.1867-29A>G) c.1435-29A>G (n.1435-29A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119413828A= | CA1396548441 | ARHGAP31 | c.1927-28A= (n.1927-28A=) c.1834-28A= (n.1834-28A=) c.1867-28A= (n.1867-28A=) c.1435-28A= (n.1435-28A=) | |
3 | g.119413828A>C | CA2553943 | ARHGAP31 | c.1927-28A>C (n.1927-28A>C) c.1834-28A>C (n.1834-28A>C) c.1867-28A>C (n.1867-28A>C) c.1435-28A>C (n.1435-28A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413829G>A | CA2667110259 | ARHGAP31 | c.1927-27G>A (n.1927-27G>A) c.1834-27G>A (n.1834-27G>A) c.1867-27G>A (n.1867-27G>A) c.1435-27G>A (n.1435-27G>A) | gnomAD v4 |
3 | g.119413829G>C | CA1396548443 | ARHGAP31 | c.1927-27G>C (n.1927-27G>C) c.1834-27G>C (n.1834-27G>C) c.1867-27G>C (n.1867-27G>C) c.1435-27G>C (n.1435-27G>C) | dbSNP |
3 | g.119413829G= | CA1396548442 | ARHGAP31 | c.1927-27G= (n.1927-27G=) c.1834-27G= (n.1834-27G=) c.1867-27G= (n.1867-27G=) c.1435-27G= (n.1435-27G=) | |
3 | g.119413830_119413834delinsACAAT | CA1396548444 | ARHGAP31 | c.1927-26_1927-22delinsACAAT (n.1927-26_1927-22delinsACAAT) c.1834-26_1834-22delinsACAAT (n.1834-26_1834-22delinsACAAT) c.1867-26_1867-22delinsACAAT (n.1867-26_1867-22delinsACAAT) c.1435-26_1435-22delinsACAAT (n.1435-26_1435-22delinsACAAT) | |
3 | g.119413831C>A | CA2667110260 | ARHGAP31 | c.1927-25C>A (n.1927-25C>A) c.1834-25C>A (n.1834-25C>A) c.1867-25C>A (n.1867-25C>A) c.1435-25C>A (n.1435-25C>A) | gnomAD v4 |
3 | g.119413833_119413836del | CA1396548445 | ARHGAP31 | c.1927-23_1927-20del (n.1927-23_1927-20del) c.1834-23_1834-20del (n.1834-23_1834-20del) c.1867-23_1867-20del (n.1867-23_1867-20del) c.1435-23_1435-20del (n.1435-23_1435-20del) | dbSNP gnomAD v4 |
3 | g.119413832A= | CA1396548446 | ARHGAP31 | c.1927-24A= (n.1927-24A=) c.1834-24A= (n.1834-24A=) c.1867-24A= (n.1867-24A=) c.1435-24A= (n.1435-24A=) | |
3 | g.119413832A>C | CA545960932 | ARHGAP31 | c.1927-24A>C (n.1927-24A>C) c.1834-24A>C (n.1834-24A>C) c.1867-24A>C (n.1867-24A>C) c.1435-24A>C (n.1435-24A>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119413833dup | CA2667110261 | ARHGAP31 | c.1927-23dup (n.1927-23dup) c.1834-23dup (n.1834-23dup) c.1867-23dup (n.1867-23dup) c.1435-23dup (n.1435-23dup) | gnomAD v4 |
3 | g.119413833A= | CA1396548447 | ARHGAP31 | c.1927-23A= (n.1927-23A=) c.1834-23A= (n.1834-23A=) c.1867-23A= (n.1867-23A=) c.1435-23A= (n.1435-23A=) | |
3 | g.119413833A>G | CA897778880 | ARHGAP31 | c.1927-23A>G (n.1927-23A>G) c.1834-23A>G (n.1834-23A>G) c.1867-23A>G (n.1867-23A>G) c.1435-23A>G (n.1435-23A>G) | dbSNP |
3 | g.119413835C>A | CA2667110262 | ARHGAP31 | c.1927-21C>A (n.1927-21C>A) c.1834-21C>A (n.1834-21C>A) c.1867-21C>A (n.1867-21C>A) c.1435-21C>A (n.1435-21C>A) | gnomAD v4 |
3 | g.119413835C= | CA1396548449 | ARHGAP31 | c.1927-21C= (n.1927-21C=) c.1834-21C= (n.1834-21C=) c.1867-21C= (n.1867-21C=) c.1435-21C= (n.1435-21C=) | |
3 | g.119413835C>G | CA1396548450 | ARHGAP31 | c.1927-21C>G (n.1927-21C>G) c.1834-21C>G (n.1834-21C>G) c.1867-21C>G (n.1867-21C>G) c.1435-21C>G (n.1435-21C>G) | dbSNP gnomAD v4 |
3 | g.119413835_119413836delinsCA | CA1396548451 | ARHGAP31 | c.1927-21_1927-20delinsCA (n.1927-21_1927-20delinsCA) c.1834-21_1834-20delinsCA (n.1834-21_1834-20delinsCA) c.1867-21_1867-20delinsCA (n.1867-21_1867-20delinsCA) c.1435-21_1435-20delinsCA (n.1435-21_1435-20delinsCA) | |
3 | g.119413835_119413839delinsCAGTT | CA1396548448 | ARHGAP31 | c.1927-21_1927-17delinsCAGTT (n.1927-21_1927-17delinsCAGTT) c.1834-21_1834-17delinsCAGTT (n.1834-21_1834-17delinsCAGTT) c.1867-21_1867-17delinsCAGTT (n.1867-21_1867-17delinsCAGTT) c.1435-21_1435-17delinsCAGTT (n.1435-21_1435-17delinsCAGTT) | |
3 | g.119413836del | CA1052740015 | ARHGAP31 | c.1927-20del (n.1927-20del) c.1834-20del (n.1834-20del) c.1867-20del (n.1867-20del) c.1435-20del (n.1435-20del) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119413836A= | CA1396548452 | ARHGAP31 | c.1927-20A= (n.1927-20A=) c.1834-20A= (n.1834-20A=) c.1867-20A= (n.1867-20A=) c.1435-20A= (n.1435-20A=) | |
3 | g.119413836A>G | CA81697260 | ARHGAP31 | c.1927-20A>G (n.1927-20A>G) c.1834-20A>G (n.1834-20A>G) c.1867-20A>G (n.1867-20A>G) c.1435-20A>G (n.1435-20A>G) | dbSNP gnomAD v4 |
3 | g.119413836_119413839del | CA897778885 | ARHGAP31 | c.1927-20_1927-17del (n.1927-20_1927-17del) c.1834-20_1834-17del (n.1834-20_1834-17del) c.1867-20_1867-17del (n.1867-20_1867-17del) c.1435-20_1435-17del (n.1435-20_1435-17del) | dbSNP |
3 | g.119413837G>C | CA2667110263 | ARHGAP31 | c.1927-19G>C (n.1927-19G>C) c.1834-19G>C (n.1834-19G>C) c.1867-19G>C (n.1867-19G>C) c.1435-19G>C (n.1435-19G>C) | gnomAD v4 |
3 | g.119413837_119413840delinsGTTT | CA1396548453 | ARHGAP31 | c.1927-19_1927-16delinsGTTT (n.1927-19_1927-16delinsGTTT) c.1834-19_1834-16delinsGTTT (n.1834-19_1834-16delinsGTTT) c.1867-19_1867-16delinsGTTT (n.1867-19_1867-16delinsGTTT) c.1435-19_1435-16delinsGTTT (n.1435-19_1435-16delinsGTTT) | |
3 | g.119413838_119413840del | CA1052740022 | ARHGAP31 | c.1927-18_1927-16del (n.1927-18_1927-16del) c.1834-18_1834-16del (n.1834-18_1834-16del) c.1867-18_1867-16del (n.1867-18_1867-16del) c.1435-18_1435-16del (n.1435-18_1435-16del) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119413840del | CA2667110264 | ARHGAP31 | c.1927-16del (n.1927-16del) c.1834-16del (n.1834-16del) c.1867-16del (n.1867-16del) c.1435-16del (n.1435-16del) | gnomAD v4 |
3 | g.119413840T>G | CA897778889 | ARHGAP31 | c.1927-16T>G (n.1927-16T>G) c.1834-16T>G (n.1834-16T>G) c.1867-16T>G (n.1867-16T>G) c.1435-16T>G (n.1435-16T>G) | dbSNP |
3 | g.119413840T= | CA1396548454 | ARHGAP31 | c.1927-16T= (n.1927-16T=) c.1834-16T= (n.1834-16T=) c.1867-16T= (n.1867-16T=) c.1435-16T= (n.1435-16T=) | |
3 | g.119413841A= | CA1396548455 | ARHGAP31 | c.1927-15A= (n.1927-15A=) c.1834-15A= (n.1834-15A=) c.1867-15A= (n.1867-15A=) c.1435-15A= (n.1435-15A=) | |
3 | g.119413841A>G | CA1396548456 | ARHGAP31 | c.1927-15A>G (n.1927-15A>G) c.1834-15A>G (n.1834-15A>G) c.1867-15A>G (n.1867-15A>G) c.1435-15A>G (n.1435-15A>G) | dbSNP |
3 | g.119413842T>C | CA2667110265 | ARHGAP31 | c.1927-14T>C (n.1927-14T>C) c.1834-14T>C (n.1834-14T>C) c.1867-14T>C (n.1867-14T>C) c.1435-14T>C (n.1435-14T>C) | gnomAD v4 |
3 | g.119413845A>G | CA2577942207 | ARHGAP31 | c.1927-11A>G (n.1927-11A>G) c.1834-11A>G (n.1834-11A>G) c.1867-11A>G (n.1867-11A>G) c.1435-11A>G (n.1435-11A>G) | |
3 | g.119413846T>C | CA1052740024 | ARHGAP31 | c.1927-10T>C (n.1927-10T>C) c.1834-10T>C (n.1834-10T>C) c.1867-10T>C (n.1867-10T>C) c.1435-10T>C (n.1435-10T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119413846T= | CA1396548457 | ARHGAP31 | c.1927-10T= (n.1927-10T=) c.1834-10T= (n.1834-10T=) c.1867-10T= (n.1867-10T=) c.1435-10T= (n.1435-10T=) | |
3 | g.119413852dup | CA2667110266 | ARHGAP31 | c.1927-4dup (n.1927-4dup) c.1834-4dup (n.1834-4dup) c.1867-4dup (n.1867-4dup) c.1435-4dup (n.1435-4dup) | gnomAD v4 |
3 | g.119413853C>T | CA2667110267 | ARHGAP31 | c.1927-3C>T (n.1927-3C>T) c.1834-3C>T (n.1834-3C>T) c.1867-3C>T (n.1867-3C>T) c.1435-3C>T (n.1435-3C>T) | gnomAD v4 |
3 | g.119413854A>C | CA354047661 | ARHGAP31 | c.1927-2A>C (n.1927-2A>C) c.1834-2A>C (n.1834-2A>C) c.1867-2A>C (n.1867-2A>C) c.1435-2A>C (n.1435-2A>C) | |
3 | g.119413854A>G | CA354047664 | ARHGAP31 | c.1927-2A>G (n.1927-2A>G) c.1834-2A>G (n.1834-2A>G) c.1867-2A>G (n.1867-2A>G) c.1435-2A>G (n.1435-2A>G) | |
3 | g.119413854A>T | CA354047668 | ARHGAP31 | c.1927-2A>T (n.1927-2A>T) c.1834-2A>T (n.1834-2A>T) c.1867-2A>T (n.1867-2A>T) c.1435-2A>T (n.1435-2A>T) | |
3 | g.119413855G>A | CA354047672 | ARHGAP31 | c.1927-1G>A (n.1927-1G>A) c.1834-1G>A (n.1834-1G>A) c.1867-1G>A (n.1867-1G>A) c.1435-1G>A (n.1435-1G>A) | |
3 | g.119413855G>C | CA354047679 | ARHGAP31 | c.1927-1G>C (n.1927-1G>C) c.1834-1G>C (n.1834-1G>C) c.1867-1G>C (n.1867-1G>C) c.1435-1G>C (n.1435-1G>C) | |
3 | g.119413855G>T | CA354047675 | ARHGAP31 | c.1927-1G>T (n.1927-1G>T) c.1834-1G>T (n.1834-1G>T) c.1867-1G>T (n.1867-1G>T) c.1435-1G>T (n.1435-1G>T) | |
3 | g.119413856G>A | CA354047686 | ARHGAP31 | c.1927G>A (p.Asp643Asn) c.1834G>A (p.Asp612Asn) c.1867G>A (p.Asp623Asn) c.1435G>A (p.Asp479Asn) | |
3 | g.119413856G>C | CA354047689 | ARHGAP31 | c.1927G>C (p.Asp643His) c.1834G>C (p.Asp612His) c.1867G>C (p.Asp623His) c.1435G>C (p.Asp479His) | |
3 | g.119413856G>T | CA354047693 | ARHGAP31 | c.1927G>T (p.Asp643Tyr) c.1834G>T (p.Asp612Tyr) c.1867G>T (p.Asp623Tyr) c.1435G>T (p.Asp479Tyr) | |
3 | g.119413857A>C | CA354047698 | ARHGAP31 | c.1928A>C (p.Asp643Ala) c.1835A>C (p.Asp612Ala) c.1868A>C (p.Asp623Ala) c.1436A>C (p.Asp479Ala) | |
3 | g.119413857A>G | CA354047701 | ARHGAP31 | c.1928A>G (p.Asp643Gly) c.1835A>G (p.Asp612Gly) c.1868A>G (p.Asp623Gly) c.1436A>G (p.Asp479Gly) | |
3 | g.119413857A>T | CA354047705 | ARHGAP31 | c.1928A>T (p.Asp643Val) c.1835A>T (p.Asp612Val) c.1868A>T (p.Asp623Val) c.1436A>T (p.Asp479Val) | |
3 | g.119413858T>A | CA354047710 | ARHGAP31 | c.1929T>A (p.Asp643Glu) c.1836T>A (p.Asp612Glu) c.1869T>A (p.Asp623Glu) c.1437T>A (p.Asp479Glu) | |
3 | g.119413858T>C | CA435411371 | ARHGAP31 | c.1929T>C (p.Asp643=) c.1836T>C (p.Asp612=) c.1869T>C (p.Asp623=) c.1437T>C (p.Asp479=) | |
3 | g.119413858T>G | CA354047712 | ARHGAP31 | c.1929T>G (p.Asp643Glu) c.1836T>G (p.Asp612Glu) c.1869T>G (p.Asp623Glu) c.1437T>G (p.Asp479Glu) | |
3 | g.119413859G>A | CA354047713 | ARHGAP31 | c.1930G>A (p.Glu644Lys) c.1837G>A (p.Glu613Lys) c.1870G>A (p.Glu624Lys) c.1438G>A (p.Glu480Lys) | |
3 | g.119413859G>C | CA354047714 | ARHGAP31 | c.1930G>C (p.Glu644Gln) c.1837G>C (p.Glu613Gln) c.1870G>C (p.Glu624Gln) c.1438G>C (p.Glu480Gln) | |
3 | g.119413859G>T | CA354047715 | ARHGAP31 | c.1930G>T (p.Glu644Ter) c.1837G>T (p.Glu613Ter) c.1870G>T (p.Glu624Ter) c.1438G>T (p.Glu480Ter) | |
3 | g.119413860A>C | CA354047721 | ARHGAP31 | c.1931A>C (p.Glu644Ala) c.1838A>C (p.Glu613Ala) c.1871A>C (p.Glu624Ala) c.1439A>C (p.Glu480Ala) | |
3 | g.119413860A>G | CA354047717 | ARHGAP31 | c.1931A>G (p.Glu644Gly) c.1838A>G (p.Glu613Gly) c.1871A>G (p.Glu624Gly) c.1439A>G (p.Glu480Gly) | |
3 | g.119413860A>T | CA354047719 | ARHGAP31 | c.1931A>T (p.Glu644Val) c.1838A>T (p.Glu613Val) c.1871A>T (p.Glu624Val) c.1439A>T (p.Glu480Val) | |
3 | g.119413861A>C | CA354047725 | ARHGAP31 | c.1932A>C (p.Glu644Asp) c.1839A>C (p.Glu613Asp) c.1872A>C (p.Glu624Asp) c.1440A>C (p.Glu480Asp) | |
3 | g.119413861A>G | CA435411378 | ARHGAP31 | c.1932A>G (p.Glu644=) c.1839A>G (p.Glu613=) c.1872A>G (p.Glu624=) c.1440A>G (p.Glu480=) | |
3 | g.119413861A>T | CA354047728 | ARHGAP31 | c.1932A>T (p.Glu644Asp) c.1839A>T (p.Glu613Asp) c.1872A>T (p.Glu624Asp) c.1440A>T (p.Glu480Asp) | |
3 | g.119413862G>A | CA354047730 | ARHGAP31 | c.1933G>A (p.Asp645Asn) c.1840G>A (p.Asp614Asn) c.1873G>A (p.Asp625Asn) c.1441G>A (p.Asp481Asn) | dbSNP gnomAD v4 |
3 | g.119413862G>C | CA354047734 | ARHGAP31 | c.1933G>C (p.Asp645His) c.1840G>C (p.Asp614His) c.1873G>C (p.Asp625His) c.1441G>C (p.Asp481His) | |
3 | g.119413862G>T | CA354047732 | ARHGAP31 | c.1933G>T (p.Asp645Tyr) c.1840G>T (p.Asp614Tyr) c.1873G>T (p.Asp625Tyr) c.1441G>T (p.Asp481Tyr) | |
3 | g.119413863A>C | CA354047736 | ARHGAP31 | c.1934A>C (p.Asp645Ala) c.1841A>C (p.Asp614Ala) c.1874A>C (p.Asp625Ala) c.1442A>C (p.Asp481Ala) | |
3 | g.119413863A>G | CA354047743 | ARHGAP31 | c.1934A>G (p.Asp645Gly) c.1841A>G (p.Asp614Gly) c.1874A>G (p.Asp625Gly) c.1442A>G (p.Asp481Gly) | |
3 | g.119413863A>T | CA354047739 | ARHGAP31 | c.1934A>T (p.Asp645Val) c.1841A>T (p.Asp614Val) c.1874A>T (p.Asp625Val) c.1442A>T (p.Asp481Val) | |
3 | g.119413864T>A | CA354047745 | ARHGAP31 | c.1935T>A (p.Asp645Glu) c.1842T>A (p.Asp614Glu) c.1875T>A (p.Asp625Glu) c.1443T>A (p.Asp481Glu) | dbSNP |
3 | g.119413864T>C | CA435411383 | ARHGAP31 | c.1935T>C (p.Asp645=) c.1842T>C (p.Asp614=) c.1875T>C (p.Asp625=) c.1443T>C (p.Asp481=) | gnomAD v4 |
3 | g.119413864T>G | CA354047746 | ARHGAP31 | c.1935T>G (p.Asp645Glu) c.1842T>G (p.Asp614Glu) c.1875T>G (p.Asp625Glu) c.1443T>G (p.Asp481Glu) | |
3 | g.119413864T= | CA1396548458 | ARHGAP31 | c.1935T= (p.Asp645=) c.1842T= (p.Asp614=) c.1875T= (p.Asp625=) c.1443T= (p.Asp481=) | |
3 | g.119413865G>A | CA354047747 | ARHGAP31 | c.1936G>A (p.Asp646Asn) c.1843G>A (p.Asp615Asn) c.1876G>A (p.Asp626Asn) c.1444G>A (p.Asp482Asn) | COSMIC |
3 | g.119413865G>C | CA354047748 | ARHGAP31 | c.1936G>C (p.Asp646His) c.1843G>C (p.Asp615His) c.1876G>C (p.Asp626His) c.1444G>C (p.Asp482His) | |
3 | g.119413865G>T | CA354047749 | ARHGAP31 | c.1936G>T (p.Asp646Tyr) c.1843G>T (p.Asp615Tyr) c.1876G>T (p.Asp626Tyr) c.1444G>T (p.Asp482Tyr) | |
3 | g.119413866A>C | CA354047752 | ARHGAP31 | c.1937A>C (p.Asp646Ala) c.1844A>C (p.Asp615Ala) c.1877A>C (p.Asp626Ala) c.1445A>C (p.Asp482Ala) | |
3 | g.119413866A>G | CA354047755 | ARHGAP31 | c.1937A>G (p.Asp646Gly) c.1844A>G (p.Asp615Gly) c.1877A>G (p.Asp626Gly) c.1445A>G (p.Asp482Gly) | |
3 | g.119413866A>T | CA354047757 | ARHGAP31 | c.1937A>T (p.Asp646Val) c.1844A>T (p.Asp615Val) c.1877A>T (p.Asp626Val) c.1445A>T (p.Asp482Val) | |
3 | g.119413867T>A | CA354047760 | ARHGAP31 | c.1938T>A (p.Asp646Glu) c.1845T>A (p.Asp615Glu) c.1878T>A (p.Asp626Glu) c.1446T>A (p.Asp482Glu) | |
3 | g.119413867T>C | CA435411390 | ARHGAP31 | c.1938T>C (p.Asp646=) c.1845T>C (p.Asp615=) c.1878T>C (p.Asp626=) c.1446T>C (p.Asp482=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413867T>G | CA354047762 | ARHGAP31 | c.1938T>G (p.Asp646Glu) c.1845T>G (p.Asp615Glu) c.1878T>G (p.Asp626Glu) c.1446T>G (p.Asp482Glu) | gnomAD v4 |
3 | g.119413867T= | CA1396548459 | ARHGAP31 | c.1938T= (p.Asp646=) c.1845T= (p.Asp615=) c.1878T= (p.Asp626=) c.1446T= (p.Asp482=) | |
3 | g.119413868C>A | CA354047766 | ARHGAP31 | c.1939C>A (p.Leu647Met) c.1846C>A (p.Leu616Met) c.1879C>A (p.Leu627Met) c.1447C>A (p.Leu483Met) | |
3 | g.119413868C>G | CA354047768 | ARHGAP31 | c.1939C>G (p.Leu647Val) c.1846C>G (p.Leu616Val) c.1879C>G (p.Leu627Val) c.1447C>G (p.Leu483Val) | |
3 | g.119413868C>T | CA435411391 | ARHGAP31 | c.1939C>T (p.Leu647=) c.1846C>T (p.Leu616=) c.1879C>T (p.Leu627=) c.1447C>T (p.Leu483=) | gnomAD v4 |
3 | g.119413869T>A | CA354047771 | ARHGAP31 | c.1940T>A (p.Leu647Gln) c.1847T>A (p.Leu616Gln) c.1880T>A (p.Leu627Gln) c.1448T>A (p.Leu483Gln) | |
3 | g.119413869T>C | CA81697267 | ARHGAP31 | c.1940T>C (p.Leu647Pro) c.1847T>C (p.Leu616Pro) c.1880T>C (p.Leu627Pro) c.1448T>C (p.Leu483Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413869T>G | CA354047781 | ARHGAP31 | c.1940T>G (p.Leu647Arg) c.1847T>G (p.Leu616Arg) c.1880T>G (p.Leu627Arg) c.1448T>G (p.Leu483Arg) | |
3 | g.119413869T= | CA1396548460 | ARHGAP31 | c.1940T= (p.Leu647=) c.1847T= (p.Leu616=) c.1880T= (p.Leu627=) c.1448T= (p.Leu483=) | |
3 | g.119413870G>A | CA435411395 | ARHGAP31 | c.1941G>A (p.Leu647=) c.1848G>A (p.Leu616=) c.1881G>A (p.Leu627=) c.1449G>A (p.Leu483=) | |
3 | g.119413870G>C | CA435411397 | ARHGAP31 | c.1941G>C (p.Leu647=) c.1848G>C (p.Leu616=) c.1881G>C (p.Leu627=) c.1449G>C (p.Leu483=) | |
3 | g.119413870G>T | CA435411398 | ARHGAP31 | c.1941G>T (p.Leu647=) c.1848G>T (p.Leu616=) c.1881G>T (p.Leu627=) c.1449G>T (p.Leu483=) | |
3 | g.119413871G>A | CA354047790 | ARHGAP31 | c.1942G>A (p.Ala648Thr) c.1849G>A (p.Ala617Thr) c.1882G>A (p.Ala628Thr) c.1450G>A (p.Ala484Thr) | |
3 | g.119413871G>C | CA354047787 | ARHGAP31 | c.1942G>C (p.Ala648Pro) c.1849G>C (p.Ala617Pro) c.1882G>C (p.Ala628Pro) c.1450G>C (p.Ala484Pro) | dbSNP |
3 | g.119413871G= | CA1396548461 | ARHGAP31 | c.1942G= (p.Ala648=) c.1849G= (p.Ala617=) c.1882G= (p.Ala628=) c.1450G= (p.Ala484=) | |
3 | g.119413871G>T | CA354047785 | ARHGAP31 | c.1942G>T (p.Ala648Ser) c.1849G>T (p.Ala617Ser) c.1882G>T (p.Ala628Ser) c.1450G>T (p.Ala484Ser) | dbSNP |
3 | g.119413872C>A | CA354047795 | ARHGAP31 | c.1943C>A (p.Ala648Asp) c.1850C>A (p.Ala617Asp) c.1883C>A (p.Ala628Asp) c.1451C>A (p.Ala484Asp) | |
3 | g.119413872C= | CA1396548462 | ARHGAP31 | c.1943C= (p.Ala648=) c.1850C= (p.Ala617=) c.1883C= (p.Ala628=) c.1451C= (p.Ala484=) | |
3 | g.119413872C>G | CA354047799 | ARHGAP31 | c.1943C>G (p.Ala648Gly) c.1850C>G (p.Ala617Gly) c.1883C>G (p.Ala628Gly) c.1451C>G (p.Ala484Gly) | |
3 | g.119413872C>T | CA354047803 | ARHGAP31 | c.1943C>T (p.Ala648Val) c.1850C>T (p.Ala617Val) c.1883C>T (p.Ala628Val) c.1451C>T (p.Ala484Val) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119413873C>A | CA435411402 | ARHGAP31 | c.1944C>A (p.Ala648=) c.1851C>A (p.Ala617=) c.1884C>A (p.Ala628=) c.1452C>A (p.Ala484=) | |
3 | g.119413873C>G | CA435411403 | ARHGAP31 | c.1944C>G (p.Ala648=) c.1851C>G (p.Ala617=) c.1884C>G (p.Ala628=) c.1452C>G (p.Ala484=) | |
3 | g.119413873C>T | CA435411404 | ARHGAP31 | c.1944C>T (p.Ala648=) c.1851C>T (p.Ala617=) c.1884C>T (p.Ala628=) c.1452C>T (p.Ala484=) | |
3 | g.119413874A= | CA1396548463 | ARHGAP31 | c.1945A= (p.Asn649=) c.1852A= (p.Asn618=) c.1885A= (p.Asn629=) c.1453A= (p.Asn485=) | |
3 | g.119413874A>C | CA354047807 | ARHGAP31 | c.1945A>C (p.Asn649His) c.1852A>C (p.Asn618His) c.1885A>C (p.Asn629His) c.1453A>C (p.Asn485His) | |
3 | g.119413874A>G | CA354047808 | ARHGAP31 | c.1945A>G (p.Asn649Asp) c.1852A>G (p.Asn618Asp) c.1885A>G (p.Asn629Asp) c.1453A>G (p.Asn485Asp) | |
3 | g.119413874A>T | CA354047809 | ARHGAP31 | c.1945A>T (p.Asn649Tyr) c.1852A>T (p.Asn618Tyr) c.1885A>T (p.Asn629Tyr) c.1453A>T (p.Asn485Tyr) | |
3 | g.119413875A= | CA1396548464 | ARHGAP31 | c.1946A= (p.Asn649=) c.1853A= (p.Asn618=) c.1886A= (p.Asn629=) c.1454A= (p.Asn485=) | |
3 | g.119413875A>C | CA354047810 | ARHGAP31 | c.1946A>C (p.Asn649Thr) c.1853A>C (p.Asn618Thr) c.1886A>C (p.Asn629Thr) c.1454A>C (p.Asn485Thr) | |
3 | g.119413875A>G | CA354047812 | ARHGAP31 | c.1946A>G (p.Asn649Ser) c.1853A>G (p.Asn618Ser) c.1886A>G (p.Asn629Ser) c.1454A>G (p.Asn485Ser) | dbSNP gnomAD v4 |
3 | g.119413875A>T | CA354047830 | ARHGAP31 | c.1946A>T (p.Asn649Ile) c.1853A>T (p.Asn618Ile) c.1886A>T (p.Asn629Ile) c.1454A>T (p.Asn485Ile) | |
3 | g.119413875_119413891dup | CA545960933 | ARHGAP31 | c.1946_1962dup (p.Glu655MetfsTer3) c.1853_1869dup (p.Glu624MetfsTer3) c.1886_1902dup (p.Glu635MetfsTer3) c.1454_1470dup (p.Glu491MetfsTer3) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119413876T>A | CA354047833 | ARHGAP31 | c.1947T>A (p.Asn649Lys) c.1854T>A (p.Asn618Lys) c.1887T>A (p.Asn629Lys) c.1455T>A (p.Asn485Lys) | |
3 | g.119413876T>C | CA435411407 | ARHGAP31 | c.1947T>C (p.Asn649=) c.1854T>C (p.Asn618=) c.1887T>C (p.Asn629=) c.1455T>C (p.Asn485=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413876T>G | CA354047836 | ARHGAP31 | c.1947T>G (p.Asn649Lys) c.1854T>G (p.Asn618Lys) c.1887T>G (p.Asn629Lys) c.1455T>G (p.Asn485Lys) | |
3 | g.119413876T= | CA1396548465 | ARHGAP31 | c.1947T= (p.Asn649=) c.1854T= (p.Asn618=) c.1887T= (p.Asn629=) c.1455T= (p.Asn485=) | |
3 | g.119413877G>A | CA354047843 | ARHGAP31 | c.1948G>A (p.Ala650Thr) c.1855G>A (p.Ala619Thr) c.1888G>A (p.Ala630Thr) c.1456G>A (p.Ala486Thr) | |
3 | g.119413877G>C | CA354047846 | ARHGAP31 | c.1948G>C (p.Ala650Pro) c.1855G>C (p.Ala619Pro) c.1888G>C (p.Ala630Pro) c.1456G>C (p.Ala486Pro) | |
3 | g.119413877G>T | CA354047848 | ARHGAP31 | c.1948G>T (p.Ala650Ser) c.1855G>T (p.Ala619Ser) c.1888G>T (p.Ala630Ser) c.1456G>T (p.Ala486Ser) | |
3 | g.119413877_119413878delinsGC | CA1396548466 | ARHGAP31 | c.1948_1949delinsGC (p.Ala650=) c.1855_1856delinsGC (p.Ala619=) c.1888_1889delinsGC (p.Ala630=) c.1456_1457delinsGC (p.Ala486=) | |
3 | g.119413878C>A | CA354047857 | ARHGAP31 | c.1949C>A (p.Ala650Asp) c.1856C>A (p.Ala619Asp) c.1889C>A (p.Ala630Asp) c.1457C>A (p.Ala486Asp) | |
3 | g.119413878C>G | CA354047854 | ARHGAP31 | c.1949C>G (p.Ala650Gly) c.1856C>G (p.Ala619Gly) c.1889C>G (p.Ala630Gly) c.1457C>G (p.Ala486Gly) | |
3 | g.119413878C>T | CA354047853 | ARHGAP31 | c.1949C>T (p.Ala650Val) c.1856C>T (p.Ala619Val) c.1889C>T (p.Ala630Val) c.1457C>T (p.Ala486Val) | |
3 | g.119413880del | CA1396548467 | ARHGAP31 | c.1951del (p.Leu651Ter) c.1858del (p.Leu620Ter) c.1891del (p.Leu631Ter) c.1459del (p.Leu487Ter) | dbSNP |
3 | g.119413879C>A | CA435411416 | ARHGAP31 | c.1950C>A (p.Ala650=) c.1857C>A (p.Ala619=) c.1890C>A (p.Ala630=) c.1458C>A (p.Ala486=) | |
3 | g.119413879C= | CA1396548468 | ARHGAP31 | c.1950C= (p.Ala650=) c.1857C= (p.Ala619=) c.1890C= (p.Ala630=) c.1458C= (p.Ala486=) | |
3 | g.119413879C>G | CA435411414 | ARHGAP31 | c.1950C>G (p.Ala650=) c.1857C>G (p.Ala619=) c.1890C>G (p.Ala630=) c.1458C>G (p.Ala486=) | |
3 | g.119413879C>T | CA2553944 | ARHGAP31 | c.1950C>T (p.Ala650=) c.1857C>T (p.Ala619=) c.1890C>T (p.Ala630=) c.1458C>T (p.Ala486=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413880C>A | CA354047862 | ARHGAP31 | c.1951C>A (p.Leu651Met) c.1858C>A (p.Leu620Met) c.1891C>A (p.Leu631Met) c.1459C>A (p.Leu487Met) | |
3 | g.119413880C>G | CA354047869 | ARHGAP31 | c.1951C>G (p.Leu651Val) c.1858C>G (p.Leu620Val) c.1891C>G (p.Leu631Val) c.1459C>G (p.Leu487Val) | |
3 | g.119413880C>T | CA435411418 | ARHGAP31 | c.1951C>T (p.Leu651=) c.1858C>T (p.Leu620=) c.1891C>T (p.Leu631=) c.1459C>T (p.Leu487=) | |
3 | g.119413881T>A | CA354047872 | ARHGAP31 | c.1952T>A (p.Leu651Gln) c.1859T>A (p.Leu620Gln) c.1892T>A (p.Leu631Gln) c.1460T>A (p.Leu487Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.119413881T>C | CA354047873 | ARHGAP31 | c.1952T>C (p.Leu651Pro) c.1859T>C (p.Leu620Pro) c.1892T>C (p.Leu631Pro) c.1460T>C (p.Leu487Pro) | gnomAD v4 |
3 | g.119413881T>G | CA354047874 | ARHGAP31 | c.1952T>G (p.Leu651Arg) c.1859T>G (p.Leu620Arg) c.1892T>G (p.Leu631Arg) c.1460T>G (p.Leu487Arg) | |
3 | g.119413881T= | CA1396548469 | ARHGAP31 | c.1952T= (p.Leu651=) c.1859T= (p.Leu620=) c.1892T= (p.Leu631=) c.1460T= (p.Leu487=) | |
3 | g.119413882G>A | CA435411419 | ARHGAP31 | c.1953G>A (p.Leu651=) c.1860G>A (p.Leu620=) c.1893G>A (p.Leu631=) c.1461G>A (p.Leu487=) | |
3 | g.119413882G>C | CA435411420 | ARHGAP31 | c.1953G>C (p.Leu651=) c.1860G>C (p.Leu620=) c.1893G>C (p.Leu631=) c.1461G>C (p.Leu487=) | |
3 | g.119413882G>T | CA435411421 | ARHGAP31 | c.1953G>T (p.Leu651=) c.1860G>T (p.Leu620=) c.1893G>T (p.Leu631=) c.1461G>T (p.Leu487=) | gnomAD v4 |
3 | g.119413883A>C | CA354047879 | ARHGAP31 | c.1954A>C (p.Ile652Leu) c.1861A>C (p.Ile621Leu) c.1894A>C (p.Ile632Leu) c.1462A>C (p.Ile488Leu) | |
3 | g.119413883A>G | CA354047877 | ARHGAP31 | c.1954A>G (p.Ile652Val) c.1861A>G (p.Ile621Val) c.1894A>G (p.Ile632Val) c.1462A>G (p.Ile488Val) | |
3 | g.119413883A>T | CA354047878 | ARHGAP31 | c.1954A>T (p.Ile652Phe) c.1861A>T (p.Ile621Phe) c.1894A>T (p.Ile632Phe) c.1462A>T (p.Ile488Phe) | |
3 | g.119413884T>A | CA354047880 | ARHGAP31 | c.1955T>A (p.Ile652Asn) c.1862T>A (p.Ile621Asn) c.1895T>A (p.Ile632Asn) c.1463T>A (p.Ile488Asn) | |
3 | g.119413884T>C | CA354047882 | ARHGAP31 | c.1955T>C (p.Ile652Thr) c.1862T>C (p.Ile621Thr) c.1895T>C (p.Ile632Thr) c.1463T>C (p.Ile488Thr) | |
3 | g.119413884T>G | CA354047893 | ARHGAP31 | c.1955T>G (p.Ile652Ser) c.1862T>G (p.Ile621Ser) c.1895T>G (p.Ile632Ser) c.1463T>G (p.Ile488Ser) | |
3 | g.119413885C>A | CA435411425 | ARHGAP31 | c.1956C>A (p.Ile652=) c.1863C>A (p.Ile621=) c.1896C>A (p.Ile632=) c.1464C>A (p.Ile488=) | |
3 | g.119413885C= | CA1396548470 | ARHGAP31 | c.1956C= (p.Ile652=) c.1863C= (p.Ile621=) c.1896C= (p.Ile632=) c.1464C= (p.Ile488=) | |
3 | g.119413885C>G | CA354047895 | ARHGAP31 | c.1956C>G (p.Ile652Met) c.1863C>G (p.Ile621Met) c.1896C>G (p.Ile632Met) c.1464C>G (p.Ile488Met) | gnomAD v4 |
3 | g.119413885C>T | CA2553945 | ARHGAP31 | c.1956C>T (p.Ile652=) c.1863C>T (p.Ile621=) c.1896C>T (p.Ile632=) c.1464C>T (p.Ile488=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119413886T>A | CA354047903 | ARHGAP31 | c.1957T>A (p.Trp653Arg) c.1864T>A (p.Trp622Arg) c.1897T>A (p.Trp633Arg) c.1465T>A (p.Trp489Arg) | |
3 | g.119413886T>C | CA354047896 | ARHGAP31 | c.1957T>C (p.Trp653Arg) c.1864T>C (p.Trp622Arg) c.1897T>C (p.Trp633Arg) c.1465T>C (p.Trp489Arg) | |
3 | g.119413886T>G | CA354047898 | ARHGAP31 | c.1957T>G (p.Trp653Gly) c.1864T>G (p.Trp622Gly) c.1897T>G (p.Trp633Gly) c.1465T>G (p.Trp489Gly) | |
3 | g.119413887G>A | CA354047911 | ARHGAP31 | c.1958G>A (p.Trp653Ter) c.1865G>A (p.Trp622Ter) c.1898G>A (p.Trp633Ter) c.1466G>A (p.Trp489Ter) | |
3 | g.119413887G>C | CA354047920 | ARHGAP31 | c.1958G>C (p.Trp653Ser) c.1865G>C (p.Trp622Ser) c.1898G>C (p.Trp633Ser) c.1466G>C (p.Trp489Ser) | |
3 | g.119413887G>T | CA354047926 | ARHGAP31 | c.1958G>T (p.Trp653Leu) c.1865G>T (p.Trp622Leu) c.1898G>T (p.Trp633Leu) c.1466G>T (p.Trp489Leu) | |
3 | g.119413888G>A | CA354047930 | ARHGAP31 | c.1959G>A (p.Trp653Ter) c.1866G>A (p.Trp622Ter) c.1899G>A (p.Trp633Ter) c.1467G>A (p.Trp489Ter) | |
3 | g.119413888G>C | CA354047936 | ARHGAP31 | c.1959G>C (p.Trp653Cys) c.1866G>C (p.Trp622Cys) c.1899G>C (p.Trp633Cys) c.1467G>C (p.Trp489Cys) | |
3 | g.119413888G>T | CA354047938 | ARHGAP31 | c.1959G>T (p.Trp653Cys) c.1866G>T (p.Trp622Cys) c.1899G>T (p.Trp633Cys) c.1467G>T (p.Trp489Cys) | |
3 | g.119413889C>A | CA354047942 | ARHGAP31 | c.1960C>A (p.Pro654Thr) c.1867C>A (p.Pro623Thr) c.1900C>A (p.Pro634Thr) c.1468C>A (p.Pro490Thr) | |
3 | g.119413889C>G | CA354047944 | ARHGAP31 | c.1960C>G (p.Pro654Ala) c.1867C>G (p.Pro623Ala) c.1900C>G (p.Pro634Ala) c.1468C>G (p.Pro490Ala) | |
3 | g.119413889C>T | CA354047954 | ARHGAP31 | c.1960C>T (p.Pro654Ser) c.1867C>T (p.Pro623Ser) c.1900C>T (p.Pro634Ser) c.1468C>T (p.Pro490Ser) | |
3 | g.119413890C>A | CA354047965 | ARHGAP31 | c.1961C>A (p.Pro654His) c.1868C>A (p.Pro623His) c.1901C>A (p.Pro634His) c.1469C>A (p.Pro490His) | |
3 | g.119413890C>G | CA354047968 | ARHGAP31 | c.1961C>G (p.Pro654Arg) c.1868C>G (p.Pro623Arg) c.1901C>G (p.Pro634Arg) c.1469C>G (p.Pro490Arg) | |
3 | g.119413890C>T | CA354047974 | ARHGAP31 | c.1961C>T (p.Pro654Leu) c.1868C>T (p.Pro623Leu) c.1901C>T (p.Pro634Leu) c.1469C>T (p.Pro490Leu) | |
3 | g.119413891T>A | CA435411437 | ARHGAP31 | c.1962T>A (p.Pro654=) c.1869T>A (p.Pro623=) c.1902T>A (p.Pro634=) c.1470T>A (p.Pro490=) | |
3 | g.119413891T>C | CA435411438 | ARHGAP31 | c.1962T>C (p.Pro654=) c.1869T>C (p.Pro623=) c.1902T>C (p.Pro634=) c.1470T>C (p.Pro490=) | |
3 | g.119413891T>G | CA435411439 | ARHGAP31 | c.1962T>G (p.Pro654=) c.1869T>G (p.Pro623=) c.1902T>G (p.Pro634=) c.1470T>G (p.Pro490=) | |
3 | g.119413892G>A | CA354047976 | ARHGAP31 | c.1963G>A (p.Glu655Lys) c.1870G>A (p.Glu624Lys) c.1903G>A (p.Glu635Lys) c.1471G>A (p.Glu491Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413892G>C | CA354047984 | ARHGAP31 | c.1963G>C (p.Glu655Gln) c.1870G>C (p.Glu624Gln) c.1903G>C (p.Glu635Gln) c.1471G>C (p.Glu491Gln) | |
3 | g.119413892G= | CA1396548471 | ARHGAP31 | c.1963G= (p.Glu655=) c.1870G= (p.Glu624=) c.1903G= (p.Glu635=) c.1471G= (p.Glu491=) | |
3 | g.119413892G>T | CA354047979 | ARHGAP31 | c.1963G>T (p.Glu655Ter) c.1870G>T (p.Glu624Ter) c.1903G>T (p.Glu635Ter) c.1471G>T (p.Glu491Ter) | |
3 | g.119413893A>C | CA354047992 | ARHGAP31 | c.1964A>C (p.Glu655Ala) c.1871A>C (p.Glu624Ala) c.1904A>C (p.Glu635Ala) c.1472A>C (p.Glu491Ala) | gnomAD v4 |
3 | g.119413893A>G | CA354048003 | ARHGAP31 | c.1964A>G (p.Glu655Gly) c.1871A>G (p.Glu624Gly) c.1904A>G (p.Glu635Gly) c.1472A>G (p.Glu491Gly) | |
3 | g.119413893A>T | CA354047996 | ARHGAP31 | c.1964A>T (p.Glu655Val) c.1871A>T (p.Glu624Val) c.1904A>T (p.Glu635Val) c.1472A>T (p.Glu491Val) | |
3 | g.119413894G>A | CA435411337 | ARHGAP31 | c.1965G>A (p.Glu655=) c.1872G>A (p.Glu624=) c.1905G>A (p.Glu635=) c.1473G>A (p.Glu491=) | |
3 | g.119413894G>C | CA354048005 | ARHGAP31 | c.1965G>C (p.Glu655Asp) c.1872G>C (p.Glu624Asp) c.1905G>C (p.Glu635Asp) c.1473G>C (p.Glu491Asp) | |
3 | g.119413894G>T | CA354048007 | ARHGAP31 | c.1965G>T (p.Glu655Asp) c.1872G>T (p.Glu624Asp) c.1905G>T (p.Glu635Asp) c.1473G>T (p.Glu491Asp) | |
3 | g.119413895A>C | CA354048009 | ARHGAP31 | c.1966A>C (p.Ile656Leu) c.1873A>C (p.Ile625Leu) c.1906A>C (p.Ile636Leu) c.1474A>C (p.Ile492Leu) | |
3 | g.119413895A>G | CA354048015 | ARHGAP31 | c.1966A>G (p.Ile656Val) c.1873A>G (p.Ile625Val) c.1906A>G (p.Ile636Val) c.1474A>G (p.Ile492Val) | |
3 | g.119413895A>T | CA354048017 | ARHGAP31 | c.1966A>T (p.Ile656Phe) c.1873A>T (p.Ile625Phe) c.1906A>T (p.Ile636Phe) c.1474A>T (p.Ile492Phe) | |
3 | g.119413896T>A | CA354048019 | ARHGAP31 | c.1967T>A (p.Ile656Asn) c.1874T>A (p.Ile625Asn) c.1907T>A (p.Ile636Asn) c.1475T>A (p.Ile492Asn) | |
3 | g.119413896T>C | CA354048020 | ARHGAP31 | c.1967T>C (p.Ile656Thr) c.1874T>C (p.Ile625Thr) c.1907T>C (p.Ile636Thr) c.1475T>C (p.Ile492Thr) | |
3 | g.119413896T>G | CA354048021 | ARHGAP31 | c.1967T>G (p.Ile656Ser) c.1874T>G (p.Ile625Ser) c.1907T>G (p.Ile636Ser) c.1475T>G (p.Ile492Ser) | |
3 | g.119413897T>A | CA435411340 | ARHGAP31 | c.1968T>A (p.Ile656=) c.1875T>A (p.Ile625=) c.1908T>A (p.Ile636=) c.1476T>A (p.Ile492=) | |
3 | g.119413897T>C | CA435411341 | ARHGAP31 | c.1968T>C (p.Ile656=) c.1875T>C (p.Ile625=) c.1908T>C (p.Ile636=) c.1476T>C (p.Ile492=) | |
3 | g.119413897T>G | CA354048022 | ARHGAP31 | c.1968T>G (p.Ile656Met) c.1875T>G (p.Ile625Met) c.1908T>G (p.Ile636Met) c.1476T>G (p.Ile492Met) | |
3 | g.119413898C>A | CA354048024 | ARHGAP31 | c.1969C>A (p.Gln657Lys) c.1876C>A (p.Gln626Lys) c.1909C>A (p.Gln637Lys) c.1477C>A (p.Gln493Lys) | |
3 | g.119413898C>G | CA354048026 | ARHGAP31 | c.1969C>G (p.Gln657Glu) c.1876C>G (p.Gln626Glu) c.1909C>G (p.Gln637Glu) c.1477C>G (p.Gln493Glu) | |
3 | g.119413898C>T | CA354048028 | ARHGAP31 | c.1969C>T (p.Gln657Ter) c.1876C>T (p.Gln626Ter) c.1909C>T (p.Gln637Ter) c.1477C>T (p.Gln493Ter) | |
3 | g.119413899A>C | CA354048035 | ARHGAP31 | c.1970A>C (p.Gln657Pro) c.1877A>C (p.Gln626Pro) c.1910A>C (p.Gln637Pro) c.1478A>C (p.Gln493Pro) | |
3 | g.119413899A>G | CA354048037 | ARHGAP31 | c.1970A>G (p.Gln657Arg) c.1877A>G (p.Gln626Arg) c.1910A>G (p.Gln637Arg) c.1478A>G (p.Gln493Arg) | |
3 | g.119413899A>T | CA354048036 | ARHGAP31 | c.1970A>T (p.Gln657Leu) c.1877A>T (p.Gln626Leu) c.1910A>T (p.Gln637Leu) c.1478A>T (p.Gln493Leu) | |
3 | g.119413900A>C | CA354048038 | ARHGAP31 | c.1971A>C (p.Gln657His) c.1878A>C (p.Gln626His) c.1911A>C (p.Gln637His) c.1479A>C (p.Gln493His) | gnomAD v4 |
3 | g.119413900A>G | CA435411347 | ARHGAP31 | c.1971A>G (p.Gln657=) c.1878A>G (p.Gln626=) c.1911A>G (p.Gln637=) c.1479A>G (p.Gln493=) | gnomAD v4 |
3 | g.119413900A>T | CA354048039 | ARHGAP31 | c.1971A>T (p.Gln657His) c.1878A>T (p.Gln626His) c.1911A>T (p.Gln637His) c.1479A>T (p.Gln493His) | |
3 | g.119413901C>A | CA354048041 | ARHGAP31 | c.1972C>A (p.Gln658Lys) c.1879C>A (p.Gln627Lys) c.1912C>A (p.Gln638Lys) c.1480C>A (p.Gln494Lys) | COSMIC |
3 | g.119413901C>G | CA354048046 | ARHGAP31 | c.1972C>G (p.Gln658Glu) c.1879C>G (p.Gln627Glu) c.1912C>G (p.Gln638Glu) c.1480C>G (p.Gln494Glu) | |
3 | g.119413901C>T | CA354048047 | ARHGAP31 | c.1972C>T (p.Gln658Ter) c.1879C>T (p.Gln627Ter) c.1912C>T (p.Gln638Ter) c.1480C>T (p.Gln494Ter) |