Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.138771123_138771147dup | CA2685130980 | ATP6V0A4 | c.103_117+10dup n.352_366+10dup | gnomAD v4 |
7 | g.138771144del | CA117292 | ATP6V0A4 | c.105del (p.Gln36SerfsTer5) n.354del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138771144A>C | CA369379551 | ATP6V0A4 | c.104T>G (p.Val35Gly) n.353T>G | |
7 | g.138771144A>G | CA369379552 | ATP6V0A4 | c.104T>C (p.Val35Ala) n.353T>C | |
7 | g.138771144A>T | CA369379553 | ATP6V0A4 | c.104T>A (p.Val35Asp) n.353T>A | |
7 | g.138771145C>A | CA4505253 | ATP6V0A4 | c.103G>T (p.Val35Phe) n.352G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138771145C= | CA1746794344 | ATP6V0A4 | c.103G= (p.Val35=) n.352G= | |
7 | g.138771145C>G | CA369379554 | ATP6V0A4 | c.103G>C (p.Val35Leu) n.352G>C | gnomAD v4 |
7 | g.138771145C>T | CA369379555 | ATP6V0A4 | c.103G>A (p.Val35Ile) n.352G>A | |
7 | g.138771146C>A | CA369379556 | ATP6V0A4 | c.102G>T (p.Leu34Phe) n.351G>T | |
7 | g.138771146C= | CA1746794345 | ATP6V0A4 | c.102G= (p.Leu34=) n.351G= | |
7 | g.138771146C>G | CA369379557 | ATP6V0A4 | c.102G>C (p.Leu34Phe) n.351G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138771146C>T | CA457942558 | ATP6V0A4 | c.102G>A (p.Leu34=) n.351G>A | |
7 | g.138771147A>C | CA369379558 | ATP6V0A4 | c.101T>G (p.Leu34Trp) n.350T>G | |
7 | g.138771147A>G | CA369379559 | ATP6V0A4 | c.101T>C (p.Leu34Ser) n.350T>C | |
7 | g.138771147A>T | CA369379560 | ATP6V0A4 | c.101T>A (p.Leu34Ter) n.350T>A | gnomAD v4 |
7 | g.138771148A= | CA1746794346 | ATP6V0A4 | c.100T= (p.Leu34=) n.349T= | |
7 | g.138771148A>C | CA369379562 | ATP6V0A4 | c.100T>G (p.Leu34Val) n.349T>G | |
7 | g.138771148A>G | CA4505254 | ATP6V0A4 | c.100T>C (p.Leu34=) n.349T>C | dbSNP ExAC gnomAD v2 |
7 | g.138771148A>T | CA369379561 | ATP6V0A4 | c.100T>A (p.Leu34Met) n.349T>A | |
7 | g.138771149T>A | CA457942559 | ATP6V0A4 | c.99A>T (p.Gly33=) n.348A>T | |
7 | g.138771149T>C | CA457942560 | ATP6V0A4 | c.99A>G (p.Gly33=) n.348A>G | |
7 | g.138771149T>G | CA457942561 | ATP6V0A4 | c.99A>C (p.Gly33=) n.348A>C | |
7 | g.138771150C>A | CA369379563 | ATP6V0A4 | c.98G>T (p.Gly33Val) n.347G>T | dbSNP gnomAD v4 |
7 | g.138771150C= | CA1746794347 | ATP6V0A4 | c.98G= (p.Gly33=) n.347G= | |
7 | g.138771150C>G | CA369379564 | ATP6V0A4 | c.98G>C (p.Gly33Ala) n.347G>C | |
7 | g.138771150C>T | CA4505255 | ATP6V0A4 | c.98G>A (p.Gly33Glu) n.347G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138771151C>A | CA369379565 | ATP6V0A4 | c.97G>T (p.Gly33Ter) n.346G>T | |
7 | g.138771151C= | CA1746794348 | ATP6V0A4 | c.97G= (p.Gly33=) n.346G= | |
7 | g.138771151C>G | CA369379566 | ATP6V0A4 | c.97G>C (p.Gly33Arg) n.346G>C | |
7 | g.138771151C>T | CA4505256 | ATP6V0A4 | c.97G>A (p.Gly33Arg) n.346G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.138771152G>A | CA4505257 | ATP6V0A4 | c.96C>T (p.Leu32=) n.345C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.138771152G>C | CA457942562 | ATP6V0A4 | c.96C>G (p.Leu32=) n.345C>G | |
7 | g.138771152G= | CA1746794349 | ATP6V0A4 | c.96C= (p.Leu32=) n.345C= | |
7 | g.138771152G>T | CA457942563 | ATP6V0A4 | c.96C>A (p.Leu32=) n.345C>A | gnomAD v4 |
7 | g.138771153A>C | CA369379571 | ATP6V0A4 | c.95T>G (p.Leu32Arg) n.344T>G | |
7 | g.138771153A>G | CA369379573 | ATP6V0A4 | c.95T>C (p.Leu32Pro) n.344T>C | |
7 | g.138771153A>T | CA369379574 | ATP6V0A4 | c.95T>A (p.Leu32His) n.344T>A | |
7 | g.138771154G>A | CA369379577 | ATP6V0A4 | c.94C>T (p.Leu32Phe) n.343C>T | gnomAD v4 |
7 | g.138771154G>C | CA369379578 | ATP6V0A4 | c.94C>G (p.Leu32Val) n.343C>G | |
7 | g.138771154G>T | CA369379581 | ATP6V0A4 | c.94C>A (p.Leu32Ile) n.343C>A | |
7 | g.138771155C>A | CA369379584 | ATP6V0A4 | c.93G>T (p.Glu31Asp) n.342G>T | |
7 | g.138771155C= | CA1746794350 | ATP6V0A4 | c.93G= (p.Glu31=) n.342G= | |
7 | g.138771155C>G | CA369379583 | ATP6V0A4 | c.93G>C (p.Glu31Asp) n.342G>C | |
7 | g.138771155C>T | CA4505258 | ATP6V0A4 | c.93G>A (p.Glu31=) n.342G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138771156T>A | CA369379586 | ATP6V0A4 | c.92A>T (p.Glu31Val) n.341A>T | |
7 | g.138771156T>C | CA369379587 | ATP6V0A4 | c.92A>G (p.Glu31Gly) n.341A>G | dbSNP gnomAD v4 |
7 | g.138771156T>G | CA369379588 | ATP6V0A4 | c.92A>C (p.Glu31Ala) n.341A>C | |
7 | g.138771156T= | CA1746794351 | ATP6V0A4 | c.92A= (p.Glu31=) n.341A= | |
7 | g.138771157C>A | CA369379589 | ATP6V0A4 | c.91G>T (p.Glu31Ter) n.340G>T |