Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.79557289G>A | CA377352764 | SFTPA2 | c.667C>T (p.Gln223Ter) c.718C>T (p.Gln240Ter) c.697C>T (p.Gln233Ter) | gnomAD v4 |
10 | g.79557289G>C | CA377352765 | SFTPA2 | c.667C>G (p.Gln223Glu) c.718C>G (p.Gln240Glu) c.697C>G (p.Gln233Glu) | |
10 | g.79557289G= | CA1630848392 | SFTPA2 | c.667C= (p.Gln223=) c.718C= (p.Gln240=) c.697C= (p.Gln233=) | |
10 | g.79557289G>T | CA5573983 | SFTPA2 | c.667C>A (p.Gln223Lys) c.718C>A (p.Gln240Lys) c.697C>A (p.Gln233Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557290C>A | CA377352767 | SFTPA2 | c.666G>T (p.Glu222Asp) c.717G>T (p.Glu239Asp) c.696G>T (p.Glu232Asp) | |
10 | g.79557290C>G | CA377352766 | SFTPA2 | c.666G>C (p.Glu222Asp) c.717G>C (p.Glu239Asp) c.696G>C (p.Glu232Asp) | |
10 | g.79557290C>T | CA470414480 | SFTPA2 | c.666G>A (p.Glu222=) c.717G>A (p.Glu239=) c.696G>A (p.Glu232=) | gnomAD v4 |
10 | g.79557291T>A | CA377352768 | SFTPA2 | c.665A>T (p.Glu222Val) c.716A>T (p.Glu239Val) c.695A>T (p.Glu232Val) | |
10 | g.79557291T>C | CA377352769 | SFTPA2 | c.665A>G (p.Glu222Gly) c.716A>G (p.Glu239Gly) c.695A>G (p.Glu232Gly) | gnomAD v4 |
10 | g.79557291T>G | CA377352770 | SFTPA2 | c.665A>C (p.Glu222Ala) c.716A>C (p.Glu239Ala) c.695A>C (p.Glu232Ala) | |
10 | g.79557292C>A | CA5573984 | SFTPA2 | c.664G>T (p.Glu222Ter) c.715G>T (p.Glu239Ter) c.694G>T (p.Glu232Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.79557292C= | CA1922240687 | SFTPA2 | c.664G= (p.Glu222=) c.715G= (p.Glu239=) c.694G= (p.Glu232=) | |
10 | g.79557292C>G | CA377352771 | SFTPA2 | c.664G>C (p.Glu222Gln) c.715G>C (p.Glu239Gln) c.694G>C (p.Glu232Gln) | gnomAD v4 COSMIC |
10 | g.79557292C>T | CA377352772 | SFTPA2 | c.664G>A (p.Glu222Lys) c.715G>A (p.Glu239Lys) c.694G>A (p.Glu232Lys) | |
10 | g.79557293T>A | CA377352773 | SFTPA2 | c.663A>T (p.Lys221Asn) c.714A>T (p.Lys238Asn) c.693A>T (p.Lys231Asn) | |
10 | g.79557293T>C | CA470414481 | SFTPA2 | c.663A>G (p.Lys221=) c.714A>G (p.Lys238=) c.693A>G (p.Lys231=) | |
10 | g.79557293T>G | CA377352774 | SFTPA2 | c.663A>C (p.Lys221Asn) c.714A>C (p.Lys238Asn) c.693A>C (p.Lys231Asn) | |
10 | g.79557294T>A | CA377352775 | SFTPA2 | c.662A>T (p.Lys221Ile) c.713A>T (p.Lys238Ile) c.692A>T (p.Lys231Ile) | |
10 | g.79557294T>C | CA377352776 | SFTPA2 | c.662A>G (p.Lys221Arg) c.713A>G (p.Lys238Arg) c.692A>G (p.Lys231Arg) | |
10 | g.79557294T>G | CA377352777 | SFTPA2 | c.662A>C (p.Lys221Thr) c.713A>C (p.Lys238Thr) c.692A>C (p.Lys231Thr) | gnomAD v4 |
10 | g.79557295T>A | CA210248098 | SFTPA2 | c.661A>T (p.Lys221Ter) c.712A>T (p.Lys238Ter) c.691A>T (p.Lys231Ter) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557295T>C | CA377352779 | SFTPA2 | c.661A>G (p.Lys221Glu) c.712A>G (p.Lys238Glu) c.691A>G (p.Lys231Glu) | |
10 | g.79557295T>G | CA377352778 | SFTPA2 | c.661A>C (p.Lys221Gln) c.712A>C (p.Lys238Gln) c.691A>C (p.Lys231Gln) | |
10 | g.79557295T= | CA1922240692 | SFTPA2 | c.661A= (p.Lys221=) c.712A= (p.Lys238=) c.691A= (p.Lys231=) | |
10 | g.79557296T>A | CA470414483 | SFTPA2 | c.660A>T (p.Gly220=) c.711A>T (p.Gly237=) c.690A>T (p.Gly230=) | |
10 | g.79557296T>C | CA470414484 | SFTPA2 | c.660A>G (p.Gly220=) c.711A>G (p.Gly237=) c.690A>G (p.Gly230=) | gnomAD v4 |
10 | g.79557296T>G | CA470414485 | SFTPA2 | c.660A>C (p.Gly220=) c.711A>C (p.Gly237=) c.690A>C (p.Gly230=) | |
10 | g.79557297C>A | CA377352780 | SFTPA2 | c.659G>T (p.Gly220Val) c.710G>T (p.Gly237Val) c.689G>T (p.Gly230Val) | |
10 | g.79557297C= | CA1922240694 | SFTPA2 | c.659G= (p.Gly220=) c.710G= (p.Gly237=) c.689G= (p.Gly230=) | |
10 | g.79557297C>G | CA377352781 | SFTPA2 | c.659G>C (p.Gly220Ala) c.710G>C (p.Gly237Ala) c.689G>C (p.Gly230Ala) | |
10 | g.79557297C>T | CA377352782 | SFTPA2 | c.659G>A (p.Gly220Glu) c.710G>A (p.Gly237Glu) c.689G>A (p.Gly230Glu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557298C>A | CA377352783 | SFTPA2 | c.658G>T (p.Gly220Ter) c.709G>T (p.Gly237Ter) c.688G>T (p.Gly230Ter) | |
10 | g.79557298C>G | CA377352784 | SFTPA2 | c.658G>C (p.Gly220Arg) c.709G>C (p.Gly237Arg) c.688G>C (p.Gly230Arg) | |
10 | g.79557298C>T | CA377352785 | SFTPA2 | c.658G>A (p.Gly220Arg) c.709G>A (p.Gly237Arg) c.688G>A (p.Gly230Arg) | |
10 | g.79557299C>A | CA470414487 | SFTPA2 | c.657G>T (p.Arg219=) c.708G>T (p.Arg236=) c.687G>T (p.Arg229=) | |
10 | g.79557299C= | CA1922240697 | SFTPA2 | c.657G= (p.Arg219=) c.708G= (p.Arg236=) c.687G= (p.Arg229=) | |
10 | g.79557299C>G | CA470414488 | SFTPA2 | c.657G>C (p.Arg219=) c.708G>C (p.Arg236=) c.687G>C (p.Arg229=) | |
10 | g.79557299C>T | CA5573985 | SFTPA2 | c.657G>A (p.Arg219=) c.708G>A (p.Arg236=) c.687G>A (p.Arg229=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557300C>A | CA377352786 | SFTPA2 | c.656G>T (p.Arg219Leu) c.707G>T (p.Arg236Leu) c.686G>T (p.Arg229Leu) | ClinVar dbSNP |
10 | g.79557300C= | CA1922240702 | SFTPA2 | c.656G= (p.Arg219=) c.707G= (p.Arg236=) c.686G= (p.Arg229=) | |
10 | g.79557300C>G | CA377352787 | SFTPA2 | c.656G>C (p.Arg219Pro) c.707G>C (p.Arg236Pro) c.686G>C (p.Arg229Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557300C>T | CA5573986 | SFTPA2 | c.656G>A (p.Arg219Gln) c.707G>A (p.Arg236Gln) c.686G>A (p.Arg229Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.79557301del | CA2609869139 | SFTPA2 | c.655del (p.Arg219GlyfsTer25) c.706del (p.Arg236GlyfsTer25) c.685del (p.Arg229GlyfsTer25) | gnomAD v4 |
10 | g.79557301G>A | CA5573987 | SFTPA2 | c.655C>T (p.Arg219Trp) c.706C>T (p.Arg236Trp) c.685C>T (p.Arg229Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557301G>C | CA377352788 | SFTPA2 | c.655C>G (p.Arg219Gly) c.706C>G (p.Arg236Gly) c.685C>G (p.Arg229Gly) | gnomAD v4 |
10 | g.79557301G= | CA1922240709 | SFTPA2 | c.655C= (p.Arg219=) c.706C= (p.Arg236=) c.685C= (p.Arg229=) | |
10 | g.79557301G>T | CA470414489 | SFTPA2 | c.655C>A (p.Arg219=) c.706C>A (p.Arg236=) c.685C>A (p.Arg229=) | gnomAD v4 |
10 | g.79557301_79557321delinsGACCTGCAGGCTCCCCTCGGT | CA1922240710 | SFTPA2 | c.635_655delinsACCGAGGGGAGCCTGCAGGTC (p.Tyr212=) c.686_706delinsACCGAGGGGAGCCTGCAGGTC (p.Tyr229=) c.665_685delinsACCGAGGGGAGCCTGCAGGTC (p.Tyr222=) | |
10 | g.79557302A= | CA1922240716 | SFTPA2 | c.654T= (p.Gly218=) c.705T= (p.Gly235=) c.684T= (p.Gly228=) | |
10 | g.79557302A>C | CA470414490 | SFTPA2 | c.654T>G (p.Gly218=) c.705T>G (p.Gly235=) c.684T>G (p.Gly228=) | COSMIC |