Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.33053909A= | CA2083133438 | KL | c.962A= (p.Asp321=) n.970A= c.41A= (p.Asp14=) | |
13 | g.33053909A>C | CA387790567 | KL | c.962A>C (p.Asp321Ala) n.970A>C c.41A>C (p.Asp14Ala) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.33053909A>G | CA387790569 | KL | c.962A>G (p.Asp321Gly) n.970A>G c.41A>G (p.Asp14Gly) | |
13 | g.33053909A>T | CA387790571 | KL | c.962A>T (p.Asp321Val) n.970A>T c.41A>T (p.Asp14Val) | |
13 | g.33053910C>A | CA387790573 | KL | c.963C>A (p.Asp321Glu) n.971C>A c.42C>A (p.Asp14Glu) | gnomAD v4 |
13 | g.33053910C>G | CA387790575 | KL | c.963C>G (p.Asp321Glu) n.971C>G c.42C>G (p.Asp14Glu) | gnomAD v4 |
13 | g.33053910C>T | CA483441634 | KL | c.963C>T (p.Asp321=) n.971C>T c.42C>T (p.Asp14=) | gnomAD v4 |
13 | g.33053911T>A | CA387790585 | KL | c.964T>A (p.Phe322Ile) n.972T>A c.43T>A (p.Phe15Ile) | |
13 | g.33053911T>C | CA387790582 | KL | c.964T>C (p.Phe322Leu) n.972T>C c.43T>C (p.Phe15Leu) | |
13 | g.33053911T>G | CA387790576 | KL | c.964T>G (p.Phe322Val) n.972T>G c.43T>G (p.Phe15Val) | |
13 | g.33053912T>A | CA387790587 | KL | c.965T>A (p.Phe322Tyr) n.973T>A c.44T>A (p.Phe15Tyr) | |
13 | g.33053912T>C | CA387790588 | KL | c.965T>C (p.Phe322Ser) n.973T>C c.44T>C (p.Phe15Ser) | |
13 | g.33053912T>G | CA387790590 | KL | c.965T>G (p.Phe322Cys) n.973T>G c.44T>G (p.Phe15Cys) | |
13 | g.33053913T>A | CA387790593 | KL | c.966T>A (p.Phe322Leu) n.974T>A c.45T>A (p.Phe15Leu) | |
13 | g.33053913T>C | CA483441636 | KL | c.966T>C (p.Phe322=) n.974T>C c.45T>C (p.Phe15=) | |
13 | g.33053913T>G | CA387790594 | KL | c.966T>G (p.Phe322Leu) n.974T>G c.45T>G (p.Phe15Leu) | |
13 | g.33053914G>A | CA6944007 | KL | c.967G>A (p.Val323Ile) n.975G>A c.46G>A (p.Val16Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.33053914G>C | CA387790595 | KL | c.967G>C (p.Val323Leu) n.975G>C c.46G>C (p.Val16Leu) | |
13 | g.33053914G= | CA2083133449 | KL | c.967G= (p.Val323=) n.975G= c.46G= (p.Val16=) | |
13 | g.33053914G>T | CA387790596 | KL | c.967G>T (p.Val323Leu) n.975G>T c.46G>T (p.Val16Leu) | |
13 | g.33053915T>A | CA387790597 | KL | c.968T>A (p.Val323Glu) n.976T>A c.47T>A (p.Val16Glu) | |
13 | g.33053915T>C | CA387790599 | KL | c.968T>C (p.Val323Ala) n.976T>C c.47T>C (p.Val16Ala) | |
13 | g.33053915T>G | CA387790601 | KL | c.968T>G (p.Val323Gly) n.976T>G c.47T>G (p.Val16Gly) | |
13 | g.33053916A>C | CA483441643 | KL | c.969A>C (p.Val323=) n.977A>C c.48A>C (p.Val16=) | gnomAD v4 |
13 | g.33053916A>G | CA483441644 | KL | c.969A>G (p.Val323=) n.977A>G c.48A>G (p.Val16=) | ClinVar gnomAD v4 |
13 | g.33053916A>T | CA483441645 | KL | c.969A>T (p.Val323=) n.977A>T c.48A>T (p.Val16=) | |
13 | g.33053917C>A | CA387790603 | KL | c.970C>A (p.Leu324Ile) n.978C>A c.49C>A (p.Leu17Ile) | |
13 | g.33053917C>G | CA387790604 | KL | c.970C>G (p.Leu324Val) n.978C>G c.49C>G (p.Leu17Val) | |
13 | g.33053917C>T | CA483441647 | KL | c.970C>T (p.Leu324=) n.978C>T c.49C>T (p.Leu17=) | |
13 | g.33053918T>A | CA387790607 | KL | c.971T>A (p.Leu324Gln) n.979T>A c.50T>A (p.Leu17Gln) | |
13 | g.33053918T>C | CA387790605 | KL | c.971T>C (p.Leu324Pro) n.979T>C c.50T>C (p.Leu17Pro) | dbSNP |
13 | g.33053918T>G | CA387790606 | KL | c.971T>G (p.Leu324Arg) n.979T>G c.50T>G (p.Leu17Arg) | gnomAD v4 |
13 | g.33053918T= | CA2083133454 | KL | c.971T= (p.Leu324=) n.979T= c.50T= (p.Leu17=) | |
13 | g.33053919A>C | CA483441653 | KL | c.972A>C (p.Leu324=) n.980A>C c.51A>C (p.Leu17=) | |
13 | g.33053919A>G | CA483441652 | KL | c.972A>G (p.Leu324=) n.980A>G c.51A>G (p.Leu17=) | |
13 | g.33053919A>T | CA483441651 | KL | c.972A>T (p.Leu324=) n.980A>T c.51A>T (p.Leu17=) | |
13 | g.33053920G>A | CA387790609 | KL | c.973G>A (p.Gly325Ser) n.981G>A c.52G>A (p.Gly18Ser) | dbSNP gnomAD v4 |
13 | g.33053920G>C | CA387790611 | KL | c.973G>C (p.Gly325Arg) n.981G>C c.52G>C (p.Gly18Arg) | |
13 | g.33053920G= | CA2083133457 | KL | c.973G= (p.Gly325=) n.981G= c.52G= (p.Gly18=) | |
13 | g.33053920G>T | CA247528360 | KL | c.973G>T (p.Gly325Cys) n.981G>T c.52G>T (p.Gly18Cys) | dbSNP |
13 | g.33053921G>A | CA387790614 | KL | c.974G>A (p.Gly325Asp) n.982G>A c.53G>A (p.Gly18Asp) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.33053921G>C | CA387790615 | KL | c.974G>C (p.Gly325Ala) n.982G>C c.53G>C (p.Gly18Ala) | gnomAD v4 |
13 | g.33053921G= | CA2083133466 | KL | c.974G= (p.Gly325=) n.982G= c.53G= (p.Gly18=) | |
13 | g.33053921G>T | CA387790617 | KL | c.974G>T (p.Gly325Val) n.982G>T c.53G>T (p.Gly18Val) | ClinVar dbSNP |
13 | g.33053922T>A | CA483441659 | KL | c.975T>A (p.Gly325=) n.983T>A c.54T>A (p.Gly18=) | |
13 | g.33053922T>C | CA483441660 | KL | c.975T>C (p.Gly325=) n.983T>C c.54T>C (p.Gly18=) | gnomAD v4 |
13 | g.33053922T>G | CA483441661 | KL | c.975T>G (p.Gly325=) n.983T>G c.54T>G (p.Gly18=) | |
13 | g.33053923T>A | CA387790619 | KL | c.976T>A (p.Trp326Arg) n.984T>A c.55T>A (p.Trp19Arg) | |
13 | g.33053923T>C | CA387790620 | KL | c.976T>C (p.Trp326Arg) n.984T>C c.55T>C (p.Trp19Arg) | |
13 | g.33053923T>G | CA387790621 | KL | c.976T>G (p.Trp326Gly) n.984T>G c.55T>G (p.Trp19Gly) |