Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | ClinVar 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 |
20 | g.23048100C= | CA2355680904 | THBD | c.1405G= (p.Asp469=) | |
20 | g.23048100C>G | CA408405584 | THBD | c.1405G>C (p.Asp469His) | |
20 | g.23048100C>T | CA408405585 | THBD | c.1405G>A (p.Asp469Asn) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.23048101G>A | CA510160347 | THBD | c.1404C>T (p.Pro468=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.23048101G>C | CA510160348 | THBD | c.1404C>G (p.Pro468=) | |
20 | g.23048101G= | CA2355680905 | THBD | c.1404C= (p.Pro468=) | |
20 | g.23048101G>T | CA510160350 | THBD | c.1404C>A (p.Pro468=) | |
20 | g.23048102G>A | CA408405586 | THBD | c.1403C>T (p.Pro468Leu) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.23048102G>C | CA408405587 | THBD | c.1403C>G (p.Pro468Arg) | |
20 | g.23048102G= | CA2355680906 | THBD | c.1403C= (p.Pro468=) | |
20 | g.23048102G>T | CA408405588 | THBD | c.1403C>A (p.Pro468His) | |
20 | g.23048103G>A | CA408405589 | THBD | c.1402C>T (p.Pro468Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.23048103G>C | CA408405590 | THBD | c.1402C>G (p.Pro468Ala) | |
20 | g.23048103G= | CA2355680907 | THBD | c.1402C= (p.Pro468=) | |
20 | g.23048103G>T | CA408405591 | THBD | c.1402C>A (p.Pro468Thr) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.23048104C>A | CA510160357 | THBD | c.1401G>T (p.Gly467=) | gnomAD v4 |
20 | g.23048104C>G | CA510160358 | THBD | c.1401G>C (p.Gly467=) | |
20 | g.23048104C>T | CA510160356 | THBD | c.1401G>A (p.Gly467=) | COSMIC |
20 | g.23048105C>A | CA408405592 | THBD | c.1400G>T (p.Gly467Val) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.23048105C= | CA2355680908 | THBD | c.1400G= (p.Gly467=) | |
20 | g.23048105C>G | CA408405593 | THBD | c.1400G>C (p.Gly467Ala) | |
20 | g.23048105C>T | CA408405594 | THBD | c.1400G>A (p.Gly467Glu) | |
20 | g.23048106C>A | CA408405596 | THBD | c.1399G>T (p.Gly467Trp) | |
20 | g.23048106C>G | CA408405597 | THBD | c.1399G>C (p.Gly467Arg) | |
20 | g.23048106C>T | CA408405595 | THBD | c.1399G>A (p.Gly467Arg) | COSMIC |