Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.23048087G>A | CA9787562 | THBD | c.1418C>T (p.Ala473Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048087G>C | CA408405560 | THBD | c.1418C>G (p.Ala473Gly) | |
20 | g.23048087G= | CA2355680894 | THBD | c.1418C= (p.Ala473=) | |
20 | g.23048087G>T | CA408405561 | THBD | c.1418C>A (p.Ala473Asp) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.23048088C>A | CA408405562 | THBD | c.1417G>T (p.Ala473Ser) | |
20 | g.23048088C= | CA2355680895 | THBD | c.1417G= (p.Ala473=) | |
20 | g.23048088C>G | CA408405563 | THBD | c.1417G>C (p.Ala473Pro) | |
20 | g.23048088C>T | CA408405564 | THBD | c.1417G>A (p.Ala473Thr) | dbSNP gnomAD v2 |
20 | g.23048089A>C | CA510160289 | THBD | c.1416T>G (p.Leu472=) | |
20 | g.23048089A>G | CA510160287 | THBD | c.1416T>C (p.Leu472=) | |
20 | g.23048089A>T | CA510160288 | THBD | c.1416T>A (p.Leu472=) | |
20 | g.23048090A= | CA2355680896 | THBD | c.1415T= (p.Leu472=) | |
20 | g.23048090A>C | CA408405565 | THBD | c.1415T>G (p.Leu472Arg) | |
20 | g.23048090A>G | CA9787563 | THBD | c.1415T>C (p.Leu472Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23048090A>T | CA408405566 | THBD | c.1415T>A (p.Leu472His) | |
20 | g.23048091G>A | CA408405567 | THBD | c.1414C>T (p.Leu472Phe) | gnomAD v4 |
20 | g.23048091G>C | CA408405568 | THBD | c.1414C>G (p.Leu472Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048091G= | CA2355680897 | THBD | c.1414C= (p.Leu472=) | |
20 | g.23048091G>T | CA408405569 | THBD | c.1414C>A (p.Leu472Ile) | |
20 | g.23048092G>A | CA510160290 | THBD | c.1413C>T (p.Ala471=) | |
20 | g.23048092G>C | CA510160291 | THBD | c.1413C>G (p.Ala471=) | |
20 | g.23048092G>T | CA510160292 | THBD | c.1413C>A (p.Ala471=) | |
20 | g.23048093G>A | CA408405570 | THBD | c.1412C>T (p.Ala471Val) | |
20 | g.23048093G>C | CA408405571 | THBD | c.1412C>G (p.Ala471Gly) | |
20 | g.23048093G>T | CA408405572 | THBD | c.1412C>A (p.Ala471Asp) | |
20 | g.23048094C>A | CA408405573 | THBD | c.1411G>T (p.Ala471Ser) | |
20 | g.23048094C= | CA2355680898 | THBD | c.1411G= (p.Ala471=) | |
20 | g.23048094C>G | CA408405574 | THBD | c.1411G>C (p.Ala471Pro) | |
20 | g.23048094C>T | CA9787564 | THBD | c.1411G>A (p.Ala471Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048095C>A | CA9787566 | THBD | c.1410G>T (p.Ser470=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
20 | g.23048095C= | CA2355680899 | THBD | c.1410G= (p.Ser470=) | |
20 | g.23048095C>G | CA510160293 | THBD | c.1410G>C (p.Ser470=) | gnomAD v4 |
20 | g.23048095C>T | CA9787565 | THBD | c.1410G>A (p.Ser470=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.23048096G>A | CA313550700 | THBD | c.1409C>T (p.Ser470Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048096G>C | CA408405575 | THBD | c.1409C>G (p.Ser470Trp) | |
20 | g.23048096G= | CA2355680900 | THBD | c.1409C= (p.Ser470=) | |
20 | g.23048096G>T | CA408405576 | THBD | c.1409C>A (p.Ser470Ter) | |
20 | g.23048097A= | CA2355680901 | THBD | c.1408T= (p.Ser470=) | |
20 | g.23048097A>C | CA408405577 | THBD | c.1408T>G (p.Ser470Ala) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.23048097A>G | CA408405578 | THBD | c.1408T>C (p.Ser470Pro) | gnomAD v4 |
20 | g.23048097A>T | CA408405579 | THBD | c.1408T>A (p.Ser470Thr) | |
20 | g.23048098G>A | CA9787567 | THBD | c.1407C>T (p.Asp469=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048098G>C | CA408405580 | THBD | c.1407C>G (p.Asp469Glu) | |
20 | g.23048098G= | CA2355680902 | THBD | c.1407C= (p.Asp469=) | |
20 | g.23048098G>T | CA408405581 | THBD | c.1407C>A (p.Asp469Glu) | |
20 | g.23048099T>A | CA408405583 | THBD | c.1406A>T (p.Asp469Val) | dbSNP |
20 | g.23048099T>C | CA9787568 | THBD | c.1406A>G (p.Asp469Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048099T>G | CA408405582 | THBD | c.1406A>C (p.Asp469Ala) | |
20 | g.23048099T= | CA2355680903 | THBD | c.1406A= (p.Asp469=) | |
20 | g.23048100C>A | CA9787569 | THBD | c.1405G>T (p.Asp469Tyr) | dbSNP ExAC |