Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.79557189T>C | CA1922240543 | SFTPA2 | c.*20A>G (n.*20A>G) | dbSNP |
10 | g.79557189T= | CA1922240542 | SFTPA2 | c.*20A= (n.*20A=) | |
10 | g.79557190C>A | CA594711237 | SFTPA2 | c.*19G>T (n.*19G>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557190C= | CA1922240545 | SFTPA2 | c.*19G= (n.*19G=) | |
10 | g.79557190C>T | CA2609869134 | SFTPA2 | c.*19G>A (n.*19G>A) | gnomAD v4 |
10 | g.79557191C= | CA1922240547 | SFTPA2 | c.*18G= (n.*18G=) | |
10 | g.79557191C>T | CA5573968 | SFTPA2 | c.*18G>A (n.*18G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557192C>T | CA930320755 | SFTPA2 | c.*17G>A (n.*17G>A) | gnomAD v3 gnomAD v4 |
10 | g.79557193A= | CA1922240549 | SFTPA2 | c.*16T= (n.*16T=) | |
10 | g.79557193A>G | CA594711238 | SFTPA2 | c.*16T>C (n.*16T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557194T>C | CA668801806 | SFTPA2 | c.*15A>G (n.*15A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557194T= | CA1922240551 | SFTPA2 | c.*15A= (n.*15A=) | |
10 | g.79557195G>A | CA2609869135 | SFTPA2 | c.*14C>T (n.*14C>T) | gnomAD v4 |
10 | g.79557197C= | CA1922240552 | SFTPA2 | c.*12G= (n.*12G=) | |
10 | g.79557197C>T | CA1922240554 | SFTPA2 | c.*12G>A (n.*12G>A) | dbSNP gnomAD v4 |
10 | g.79557198C>A | CA930320767 | SFTPA2 | c.*11G>T (n.*11G>T) | gnomAD v3 gnomAD v4 |
10 | g.79557202A>G | CA2609869136 | SFTPA2 | c.*7T>C (n.*7T>C) | gnomAD v4 |
10 | g.79557203T>C | CA210248019 | SFTPA2 | c.*6A>G (n.*6A>G) | dbSNP |
10 | g.79557203T= | CA1922240555 | SFTPA2 | c.*6A= (n.*6A=) | |
10 | g.79557204G>A | CA5573969 | SFTPA2 | c.*5C>T (n.*5C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557204G>C | CA5573970 | SFTPA2 | c.*5C>G (n.*5C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557204G= | CA1922240558 | SFTPA2 | c.*5C= (n.*5C=) | |
10 | g.79557204G>T | CA930320776 | SFTPA2 | c.*5C>A (n.*5C>A) | gnomAD v3 gnomAD v4 |
10 | g.79557205C>G | CA2517304672 | SFTPA2 | c.*4G>C (n.*4G>C) | gnomAD v4 |
10 | g.79557207T>C | CA668801811 | SFTPA2 | c.*2A>G (n.*2A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557207T= | CA1922240563 | SFTPA2 | c.*2A= (n.*2A=) | |
10 | g.79557209T>A | CA377352583 | SFTPA2 | c.747A>T (p.Ter249Cys) c.798A>T (p.Ter266Cys) c.777A>T (p.Ter259Cys) | |
10 | g.79557209T>C | CA377352584 | SFTPA2 | c.747A>G (p.Ter249Trp) c.798A>G (p.Ter266Trp) c.777A>G (p.Ter259Trp) | |
10 | g.79557209T>G | CA377352585 | SFTPA2 | c.747A>C (p.Ter249Cys) c.798A>C (p.Ter266Cys) c.777A>C (p.Ter259Cys) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557209T= | CA1922240564 | SFTPA2 | c.747A= (p.Ter249=) c.798A= (p.Ter266=) c.777A= (p.Ter259=) | |
10 | g.79557210C>A | CA377352586 | SFTPA2 | c.746G>T (p.Ter249Leu) c.797G>T (p.Ter266Leu) c.776G>T (p.Ter259Leu) | |
10 | g.79557210C>G | CA377352587 | SFTPA2 | c.746G>C (p.Ter249Ser) c.797G>C (p.Ter266Ser) c.776G>C (p.Ter259Ser) | |
10 | g.79557210C>T | CA470414435 | SFTPA2 | c.746G>A (p.Ter249=) c.797G>A (p.Ter266=) c.776G>A (p.Ter259=) | |
10 | g.79557211A= | CA1922240567 | SFTPA2 | c.745T= (p.Ter249=) c.796T= (p.Ter266=) c.775T= (p.Ter259=) | |
10 | g.79557211A>C | CA377352589 | SFTPA2 | c.745T>G (p.Ter249Gly) c.796T>G (p.Ter266Gly) c.775T>G (p.Ter259Gly) | gnomAD v4 |
10 | g.79557211A>G | CA210248021 | SFTPA2 | c.745T>C (p.Ter249Arg) c.796T>C (p.Ter266Arg) c.775T>C (p.Ter259Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557211A>T | CA377352588 | SFTPA2 | c.745T>A (p.Ter249Arg) c.796T>A (p.Ter266Arg) c.775T>A (p.Ter259Arg) | |
10 | g.79557212G>A | CA470414436 | SFTPA2 | c.744C>T (p.Phe248=) c.795C>T (p.Phe265=) c.774C>T (p.Phe258=) | |
10 | g.79557212G>C | CA377352591 | SFTPA2 | c.744C>G (p.Phe248Leu) c.795C>G (p.Phe265Leu) c.774C>G (p.Phe258Leu) | |
10 | g.79557212G>T | CA377352590 | SFTPA2 | c.744C>A (p.Phe248Leu) c.795C>A (p.Phe265Leu) c.774C>A (p.Phe258Leu) | COSMIC |
10 | g.79557213A>C | CA377352593 | SFTPA2 | c.743T>G (p.Phe248Cys) c.794T>G (p.Phe265Cys) c.773T>G (p.Phe258Cys) | gnomAD v4 |
10 | g.79557213A>G | CA377352592 | SFTPA2 | c.743T>C (p.Phe248Ser) c.794T>C (p.Phe265Ser) c.773T>C (p.Phe258Ser) | |
10 | g.79557213A>T | CA377352594 | SFTPA2 | c.743T>A (p.Phe248Tyr) c.794T>A (p.Phe265Tyr) c.773T>A (p.Phe258Tyr) | |
10 | g.79557214A>C | CA377352595 | SFTPA2 | c.742T>G (p.Phe248Val) c.793T>G (p.Phe265Val) c.772T>G (p.Phe258Val) | |
10 | g.79557214A>G | CA377352597 | SFTPA2 | c.742T>C (p.Phe248Leu) c.793T>C (p.Phe265Leu) c.772T>C (p.Phe258Leu) | |
10 | g.79557214A>T | CA377352596 | SFTPA2 | c.742T>A (p.Phe248Ile) c.793T>A (p.Phe265Ile) c.772T>A (p.Phe258Ile) | gnomAD v4 |
10 | g.79557215C>A | CA377352598 | SFTPA2 | c.741G>T (p.Glu247Asp) c.792G>T (p.Glu264Asp) c.771G>T (p.Glu257Asp) | |
10 | g.79557215C>G | CA377352599 | SFTPA2 | c.741G>C (p.Glu247Asp) c.792G>C (p.Glu264Asp) c.771G>C (p.Glu257Asp) | |
10 | g.79557215C>T | CA470414437 | SFTPA2 | c.741G>A (p.Glu247=) c.792G>A (p.Glu264=) c.771G>A (p.Glu257=) | |
10 | g.79557216T>A | CA377352600 | SFTPA2 | c.740A>T (p.Glu247Val) c.791A>T (p.Glu264Val) c.770A>T (p.Glu257Val) |