Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31598602G>A | CA179467 | TTR | c.371G>A (p.Arg124His) c.275G>A (p.Arg92His) c.485G>A (p.Arg162His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598602G>C | CA402158180 | TTR | c.371G>C (p.Arg124Pro) c.275G>C (p.Arg92Pro) c.485G>C (p.Arg162Pro) | |
18 | g.31598602G= | CA2293889343 | TTR | c.371G= (p.Arg124=) c.275G= (p.Arg92=) c.485G= (p.Arg162=) | |
18 | g.31598602G>T | CA402158181 | TTR | c.371G>T (p.Arg124Leu) c.275G>T (p.Arg92Leu) c.485G>T (p.Arg162Leu) | gnomAD v4 |
18 | g.31598603C>A | CA503610876 | TTR | c.372C>A (p.Arg124=) c.276C>A (p.Arg92=) c.486C>A (p.Arg162=) | |
18 | g.31598603C= | CA2293889344 | TTR | c.372C= (p.Arg124=) c.276C= (p.Arg92=) c.486C= (p.Arg162=) | |
18 | g.31598603C>G | CA8928505 | TTR | c.372C>G (p.Arg124=) c.276C>G (p.Arg92=) c.486C>G (p.Arg162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598603C>T | CA503610878 | TTR | c.372C>T (p.Arg124=) c.276C>T (p.Arg92=) c.486C>T (p.Arg162=) | gnomAD v4 |
18 | g.31598604T>A | CA402158184 | TTR | c.373T>A (p.Tyr125Asn) c.277T>A (p.Tyr93Asn) c.487T>A (p.Tyr163Asn) | |
18 | g.31598604T>C | CA402158182 | TTR | c.373T>C (p.Tyr125His) c.277T>C (p.Tyr93His) c.487T>C (p.Tyr163His) | ClinVar dbSNP COSMIC |
18 | g.31598604T>G | CA402158183 | TTR | c.373T>G (p.Tyr125Asp) c.277T>G (p.Tyr93Asp) c.487T>G (p.Tyr163Asp) | |
18 | g.31598604T= | CA2293889345 | TTR | c.373T= (p.Tyr125=) c.277T= (p.Tyr93=) c.487T= (p.Tyr163=) | |
18 | g.31598605A>C | CA402158185 | TTR | c.374A>C (p.Tyr125Ser) c.278A>C (p.Tyr93Ser) c.488A>C (p.Tyr163Ser) | |
18 | g.31598605A>G | CA402158186 | TTR | c.374A>G (p.Tyr125Cys) c.278A>G (p.Tyr93Cys) c.488A>G (p.Tyr163Cys) | |
18 | g.31598605A>T | CA402158187 | TTR | c.374A>T (p.Tyr125Phe) c.278A>T (p.Tyr93Phe) c.488A>T (p.Tyr163Phe) | |
18 | g.31598606C>A | CA8928506 | TTR | c.375C>A (p.Tyr125Ter) c.279C>A (p.Tyr93Ter) c.489C>A (p.Tyr163Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31598606C= | CA2293889346 | TTR | c.375C= (p.Tyr125=) c.279C= (p.Tyr93=) c.489C= (p.Tyr163=) | |
18 | g.31598606C>G | CA402158188 | TTR | c.375C>G (p.Tyr125Ter) c.279C>G (p.Tyr93Ter) c.489C>G (p.Tyr163Ter) | |
18 | g.31598606C>T | CA16616068 | TTR | c.375C>T (p.Tyr125=) c.279C>T (p.Tyr93=) c.489C>T (p.Tyr163=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598607A>C | CA402158189 | TTR | c.376A>C (p.Thr126Pro) c.280A>C (p.Thr94Pro) c.490A>C (p.Thr164Pro) c.375+1A>C (n.375+1A>C) | |
18 | g.31598607A>G | CA402158191 | TTR | c.376A>G (p.Thr126Ala) c.280A>G (p.Thr94Ala) c.490A>G (p.Thr164Ala) c.375+1A>G (n.375+1A>G) | |
18 | g.31598607A>T | CA402158190 | TTR | c.376A>T (p.Thr126Ser) c.280A>T (p.Thr94Ser) c.490A>T (p.Thr164Ser) c.375+1A>T (n.375+1A>T) | |
18 | g.31598608C>A | CA402158192 | TTR | c.377C>A (p.Thr126Asn) c.281C>A (p.Thr94Asn) c.491C>A (p.Thr164Asn) c.375+2C>A (n.375+2C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598608C= | CA2293889347 | TTR | c.377C= (p.Thr126=) c.281C= (p.Thr94=) c.491C= (p.Thr164=) c.375+2C= (n.375+2C=) | |
18 | g.31598608C>G | CA402158193 | TTR | c.377C>G (p.Thr126Ser) c.281C>G (p.Thr94Ser) c.491C>G (p.Thr164Ser) c.375+2C>G (n.375+2C>G) | |
18 | g.31598608C>T | CA402158194 | TTR | c.377C>T (p.Thr126Ile) c.281C>T (p.Thr94Ile) c.491C>T (p.Thr164Ile) c.375+2C>T (n.375+2C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
18 | g.31598609C>A | CA503610887 | TTR | c.378C>A (p.Thr126=) c.282C>A (p.Thr94=) c.492C>A (p.Thr164=) c.375+3C>A (n.375+3C>A) | gnomAD v4 |
18 | g.31598609C>G | CA503610888 | TTR | c.378C>G (p.Thr126=) c.282C>G (p.Thr94=) c.492C>G (p.Thr164=) c.375+3C>G (n.375+3C>G) | |
18 | g.31598609C>T | CA503610889 | TTR | c.378C>T (p.Thr126=) c.282C>T (p.Thr94=) c.492C>T (p.Thr164=) c.375+3C>T (n.375+3C>T) | |
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) |