Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
20 | g.23048107G>A | CA313550712 | THBD | c.1398C>T (p.Cys466=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.23048107G>C | CA408405598 | THBD | c.1398C>G (p.Cys466Trp) | |
20 | g.23048107G= | CA2355680909 | THBD | c.1398C= (p.Cys466=) | |
20 | g.23048107G>T | CA408405599 | THBD | c.1398C>A (p.Cys466Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048108C>A | CA408405600 | THBD | c.1397G>T (p.Cys466Phe) | |
20 | g.23048108C>G | CA408405601 | THBD | c.1397G>C (p.Cys466Ser) | |
20 | g.23048108C>T | CA408405602 | THBD | c.1397G>A (p.Cys466Tyr) | ClinVar |
20 | g.23048109A>C | CA408405603 | THBD | c.1396T>G (p.Cys466Gly) | |
20 | g.23048109A>G | CA408405604 | THBD | c.1396T>C (p.Cys466Arg) | |
20 | g.23048109A>T | CA408405605 | THBD | c.1396T>A (p.Cys466Ser) | |
20 | g.23048110G>A | CA510160364 | THBD | c.1395C>T (p.Ile465=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.23048110G>C | CA408405606 | THBD | c.1395C>G (p.Ile465Met) | |
20 | g.23048110G= | CA2355680910 | THBD | c.1395C= (p.Ile465=) | |
20 | g.23048110G>T | CA510160367 | THBD | c.1395C>A (p.Ile465=) | |
20 | g.23048111A>C | CA408405607 | THBD | c.1394T>G (p.Ile465Ser) | |
20 | g.23048111A>G | CA408405608 | THBD | c.1394T>C (p.Ile465Thr) | |
20 | g.23048111A>T | CA408405609 | THBD | c.1394T>A (p.Ile465Asn) | |
20 | g.23048112T>A | CA408405611 | THBD | c.1393A>T (p.Ile465Phe) | |
20 | g.23048112T>C | CA408405612 | THBD | c.1393A>G (p.Ile465Val) | gnomAD v4 |
20 | g.23048112T>G | CA408405610 | THBD | c.1393A>C (p.Ile465Leu) | |
20 | g.23048113G>A | CA510160371 | THBD | c.1392C>T (p.Cys464=) | dbSNP |
20 | g.23048113G>C | CA408405613 | THBD | c.1392C>G (p.Cys464Trp) | |
20 | g.23048113G= | CA2355680911 | THBD | c.1392C= (p.Cys464=) | |
20 | g.23048113G>T | CA408405614 | THBD | c.1392C>A (p.Cys464Ter) |