Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31598610A= | CA2293889348 | TTR | c.379A= (p.Ile127=) c.283A= (p.Ile95=) c.493A= (p.Ile165=) c.375+4A= (n.375+4A=) | |
18 | g.31598610A>C | CA402158195 | TTR | c.379A>C (p.Ile127Leu) c.283A>C (p.Ile95Leu) c.493A>C (p.Ile165Leu) c.375+4A>C (n.375+4A>C) | |
18 | g.31598610A>G | CA256843 | TTR | c.379A>G (p.Ile127Val) c.283A>G (p.Ile95Val) c.493A>G (p.Ile165Val) c.375+4A>G (n.375+4A>G) | ClinVar dbSNP |
18 | g.31598610A>T | CA402158196 | TTR | c.379A>T (p.Ile127Phe) c.283A>T (p.Ile95Phe) c.493A>T (p.Ile165Phe) c.375+4A>T (n.375+4A>T) | |
18 | g.31598611T>A | CA402158197 | TTR | c.380T>A (p.Ile127Asn) c.284T>A (p.Ile95Asn) c.494T>A (p.Ile165Asn) c.375+5T>A (n.375+5T>A) | |
18 | g.31598611T>C | CA8928507 | TTR | c.380T>C (p.Ile127Thr) c.284T>C (p.Ile95Thr) c.494T>C (p.Ile165Thr) c.375+5T>C (n.375+5T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31598611T>G | CA402158198 | TTR | c.380T>G (p.Ile127Ser) c.284T>G (p.Ile95Ser) c.494T>G (p.Ile165Ser) c.375+5T>G (n.375+5T>G) | |
18 | g.31598611T= | CA2293889349 | TTR | c.380T= (p.Ile127=) c.284T= (p.Ile95=) c.494T= (p.Ile165=) c.375+5T= (n.375+5T=) | |
18 | g.31598612T>A | CA503610891 | TTR | c.381T>A (p.Ile127=) c.285T>A (p.Ile95=) c.495T>A (p.Ile165=) c.375+6T>A (n.375+6T>A) | |
18 | g.31598612T>C | CA297741913 | TTR | c.381T>C (p.Ile127=) c.285T>C (p.Ile95=) c.495T>C (p.Ile165=) c.375+6T>C (n.375+6T>C) | ClinVar dbSNP |
18 | g.31598612T>G | CA402158199 | TTR | c.381T>G (p.Ile127Met) c.285T>G (p.Ile95Met) c.495T>G (p.Ile165Met) c.375+6T>G (n.375+6T>G) | ClinVar dbSNP |
18 | g.31598612T= | CA2293889350 | TTR | c.381T= (p.Ile127=) c.285T= (p.Ile95=) c.495T= (p.Ile165=) c.375+6T= (n.375+6T=) | |
18 | g.31598613G>A | CA402158200 | TTR | c.382G>A (p.Ala128Thr) c.286G>A (p.Ala96Thr) c.496G>A (p.Ala166Thr) c.375+7G>A (n.375+7G>A) | ClinVar dbSNP |
18 | g.31598613G>C | CA402158202 | TTR | c.382G>C (p.Ala128Pro) c.286G>C (p.Ala96Pro) c.496G>C (p.Ala166Pro) c.375+7G>C (n.375+7G>C) | |
18 | g.31598613G= | CA2293889351 | TTR | c.382G= (p.Ala128=) c.286G= (p.Ala96=) c.496G= (p.Ala166=) c.375+7G= (n.375+7G=) | |
18 | g.31598613G>T | CA402158201 | TTR | c.382G>T (p.Ala128Ser) c.286G>T (p.Ala96Ser) c.496G>T (p.Ala166Ser) c.375+7G>T (n.375+7G>T) | |
18 | g.31598614C>A | CA402158203 | TTR | c.383C>A (p.Ala128Asp) c.287C>A (p.Ala96Asp) c.497C>A (p.Ala166Asp) c.375+8C>A (n.375+8C>A) | |
18 | g.31598614C= | CA2293889352 | TTR | c.383C= (p.Ala128=) c.287C= (p.Ala96=) c.497C= (p.Ala166=) c.375+8C= (n.375+8C=) | |
18 | g.31598614C>G | CA402158204 | TTR | c.383C>G (p.Ala128Gly) c.287C>G (p.Ala96Gly) c.497C>G (p.Ala166Gly) c.375+8C>G (n.375+8C>G) | |
18 | g.31598614C>T | CA402158205 | TTR | c.383C>T (p.Ala128Val) c.287C>T (p.Ala96Val) c.497C>T (p.Ala166Val) c.375+8C>T (n.375+8C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598615C>A | CA503610896 | TTR | c.384C>A (p.Ala128=) c.288C>A (p.Ala96=) c.498C>A (p.Ala166=) c.375+9C>A (n.375+9C>A) | |
18 | g.31598615C= | CA2293889353 | TTR | c.384C= (p.Ala128=) c.288C= (p.Ala96=) c.498C= (p.Ala166=) c.375+9C= (n.375+9C=) | |
18 | g.31598615C>G | CA503610897 | TTR | c.384C>G (p.Ala128=) c.288C>G (p.Ala96=) c.498C>G (p.Ala166=) c.375+9C>G (n.375+9C>G) | |
18 | g.31598615C>T | CA245099 | TTR | c.384C>T (p.Ala128=) c.288C>T (p.Ala96=) c.498C>T (p.Ala166=) c.375+9C>T (n.375+9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598616G>A | CA132600 | TTR | c.385G>A (p.Ala129Thr) c.289G>A (p.Ala97Thr) c.499G>A (p.Ala167Thr) c.375+10G>A (n.375+10G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.31598616G>C | CA402158206 | TTR | c.385G>C (p.Ala129Pro) c.289G>C (p.Ala97Pro) c.499G>C (p.Ala167Pro) c.375+10G>C (n.375+10G>C) | |
18 | g.31598616G= | CA2293889354 | TTR | c.385G= (p.Ala129=) c.289G= (p.Ala97=) c.499G= (p.Ala167=) c.375+10G= (n.375+10G=) | |
18 | g.31598616G>T | CA402158207 | TTR | c.385G>T (p.Ala129Ser) c.289G>T (p.Ala97Ser) c.499G>T (p.Ala167Ser) c.375+10G>T (n.375+10G>T) | ClinVar dbSNP |
18 | g.31598617C>A | CA402158208 | TTR | c.386C>A (p.Ala129Asp) c.290C>A (p.Ala97Asp) c.500C>A (p.Ala167Asp) c.375+11C>A (n.375+11C>A) | |
18 | g.31598617C= | CA2293889355 | TTR | c.386C= (p.Ala129=) c.290C= (p.Ala97=) c.500C= (p.Ala167=) c.375+11C= (n.375+11C=) | |
18 | g.31598617C>G | CA402158209 | TTR | c.386C>G (p.Ala129Gly) c.290C>G (p.Ala97Gly) c.500C>G (p.Ala167Gly) c.375+11C>G (n.375+11C>G) | |
18 | g.31598617C>T | CA123109 | TTR | c.386C>T (p.Ala129Val) c.290C>T (p.Ala97Val) c.500C>T (p.Ala167Val) c.375+11C>T (n.375+11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598618C>A | CA8928508 | TTR | c.387C>A (p.Ala129=) c.291C>A (p.Ala97=) c.501C>A (p.Ala167=) c.376-13C>A (n.376-13C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31598618C= | CA2293889356 | TTR | c.387C= (p.Ala129=) c.291C= (p.Ala97=) c.501C= (p.Ala167=) c.376-13C= (n.376-13C=) | |
18 | g.31598618C>G | CA503610902 | TTR | c.387C>G (p.Ala129=) c.291C>G (p.Ala97=) c.501C>G (p.Ala167=) c.376-13C>G (n.376-13C>G) | gnomAD v4 |
18 | g.31598618C>T | CA503610901 | TTR | c.387C>T (p.Ala129=) c.291C>T (p.Ala97=) c.501C>T (p.Ala167=) c.376-13C>T (n.376-13C>T) | |
18 | g.31598619C>A | CA402158210 | TTR | c.388C>A (p.Leu130Met) c.292C>A (p.Leu98Met) c.502C>A (p.Leu168Met) c.376-12C>A (n.376-12C>A) | |
18 | g.31598619C>G | CA402158211 | TTR | c.388C>G (p.Leu130Val) c.292C>G (p.Leu98Val) c.502C>G (p.Leu168Val) c.376-12C>G (n.376-12C>G) | |
18 | g.31598619C>T | CA503610903 | TTR | c.388C>T (p.Leu130=) c.292C>T (p.Leu98=) c.502C>T (p.Leu168=) c.376-12C>T (n.376-12C>T) | |
18 | g.31598620T>A | CA402158212 | TTR | c.389T>A (p.Leu130Gln) c.293T>A (p.Leu98Gln) c.503T>A (p.Leu168Gln) c.376-11T>A (n.376-11T>A) | |
18 | g.31598620T>C | CA402158214 | TTR | c.389T>C (p.Leu130Pro) c.293T>C (p.Leu98Pro) c.503T>C (p.Leu168Pro) c.376-11T>C (n.376-11T>C) | |
18 | g.31598620T>G | CA402158213 | TTR | c.389T>G (p.Leu130Arg) c.293T>G (p.Leu98Arg) c.503T>G (p.Leu168Arg) c.376-11T>G (n.376-11T>G) | |
18 | g.31598621G>A | CA503610904 | TTR | c.390G>A (p.Leu130=) c.294G>A (p.Leu98=) c.504G>A (p.Leu168=) c.376-10G>A (n.376-10G>A) | ClinVar gnomAD v4 |
18 | g.31598621G>C | CA503610905 | TTR | c.390G>C (p.Leu130=) c.294G>C (p.Leu98=) c.504G>C (p.Leu168=) c.376-10G>C (n.376-10G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31598621G= | CA2293889357 | TTR | c.390G= (p.Leu130=) c.294G= (p.Leu98=) c.504G= (p.Leu168=) c.376-10G= (n.376-10G=) | |
18 | g.31598621G>T | CA503610906 | TTR | c.390G>T (p.Leu130=) c.294G>T (p.Leu98=) c.504G>T (p.Leu168=) c.376-10G>T (n.376-10G>T) | gnomAD v4 |
18 | g.31598622C>A | CA256804 | TTR | c.391C>A (p.Leu131Met) c.295C>A (p.Leu99Met) c.505C>A (p.Leu169Met) c.376-9C>A (n.376-9C>A) | ClinVar dbSNP |
18 | g.31598622C= | CA2293889358 | TTR | c.391C= (p.Leu131=) c.295C= (p.Leu99=) c.505C= (p.Leu169=) c.376-9C= (n.376-9C=) | |
18 | g.31598622C>G | CA402158215 | TTR | c.391C>G (p.Leu131Val) c.295C>G (p.Leu99Val) c.505C>G (p.Leu169Val) c.376-9C>G (n.376-9C>G) | |
18 | g.31598622C>T | CA503610908 | TTR | c.391C>T (p.Leu131=) c.295C>T (p.Leu99=) c.505C>T (p.Leu169=) c.376-9C>T (n.376-9C>T) | ClinVar dbSNP |