Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.57198910C>A | CA353401533 | HESX1 | c.200G>T (p.Ser67Ile) n.851-418G>T | gnomAD v4 |
3 | g.57198910C= | CA1367077674 | HESX1 | c.200G= (p.Ser67=) n.851-418G= | |
3 | g.57198910C>G | CA2463301 | HESX1 | c.200G>C (p.Ser67Thr) n.851-418G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.57198910C>T | CA2463302 | HESX1 | c.200G>A (p.Ser67Asn) n.851-418G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.57198911T>A | CA353401534 | HESX1 | c.199A>T (p.Ser67Cys) n.851-419A>T | |
3 | g.57198911T>C | CA353401535 | HESX1 | c.199A>G (p.Ser67Gly) n.851-419A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.57198911T>G | CA353401536 | HESX1 | c.199A>C (p.Ser67Arg) n.851-419A>C | |
3 | g.57198911T= | CA1367077678 | HESX1 | c.199A= (p.Ser67=) n.851-419A= | |
3 | g.57198912G>A | CA434088091 | HESX1 | c.198C>T (p.Pro66=) n.851-420C>T | gnomAD v4 |
3 | g.57198912G>C | CA434088093 | HESX1 | c.198C>G (p.Pro66=) n.851-420C>G | |
3 | g.57198912G>T | CA434088096 | HESX1 | c.198C>A (p.Pro66=) n.851-420C>A | |
3 | g.57198913G>A | CA2463303 | HESX1 | c.197C>T (p.Pro66Leu) n.851-421C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.57198913G>C | CA353401538 | HESX1 | c.197C>G (p.Pro66Arg) n.851-421C>G | |
3 | g.57198913G= | CA1367077682 | HESX1 | c.197C= (p.Pro66=) n.851-421C= | |
3 | g.57198913G>T | CA353401537 | HESX1 | c.197C>A (p.Pro66His) n.851-421C>A | |
3 | g.57198914G>A | CA353401539 | HESX1 | c.196C>T (p.Pro66Ser) n.851-422C>T | |
3 | g.57198914G>C | CA353401540 | HESX1 | c.196C>G (p.Pro66Ala) n.851-422C>G | |
3 | g.57198914G>T | CA353401541 | HESX1 | c.196C>A (p.Pro66Thr) n.851-422C>A | |
3 | g.57198915A>C | CA434088122 | HESX1 | c.195T>G (p.Pro65=) n.851-423T>G | |
3 | g.57198915A>G | CA434088116 | HESX1 | c.195T>C (p.Pro65=) n.851-423T>C | |
3 | g.57198915A>T | CA434088119 | HESX1 | c.195T>A (p.Pro65=) n.851-423T>A | |
3 | g.57198916G>A | CA353401542 | HESX1 | c.194C>T (p.Pro65Leu) n.851-424C>T | gnomAD v4 |
3 | g.57198916G>C | CA353401543 | HESX1 | c.194C>G (p.Pro65Arg) n.851-424C>G | |
3 | g.57198916G>T | CA353401544 | HESX1 | c.194C>A (p.Pro65His) n.851-424C>A | |
3 | g.57198917G>A | CA353401545 | HESX1 | c.193C>T (p.Pro65Ser) n.851-425C>T | |
3 | g.57198917G>C | CA353401547 | HESX1 | c.193C>G (p.Pro65Ala) n.851-425C>G | COSMIC |
3 | g.57198917G>T | CA353401546 | HESX1 | c.193C>A (p.Pro65Thr) n.851-425C>A | |
3 | g.57198918A>C | CA353401548 | HESX1 | c.192T>G (p.Asn64Lys) n.851-426T>G | |
3 | g.57198918A>G | CA434088132 | HESX1 | c.192T>C (p.Asn64=) n.851-426T>C | |
3 | g.57198918A>T | CA353401549 | HESX1 | c.192T>A (p.Asn64Lys) n.851-426T>A | |
3 | g.57198919T>A | CA353401550 | HESX1 | c.191A>T (p.Asn64Ile) n.851-427A>T | |
3 | g.57198919T>C | CA353401551 | HESX1 | c.191A>G (p.Asn64Ser) n.851-427A>G | |
3 | g.57198919T>G | CA353401552 | HESX1 | c.191A>C (p.Asn64Thr) n.851-427A>C | |
3 | g.57198920T>A | CA353401553 | HESX1 | c.190A>T (p.Asn64Tyr) n.851-428A>T | |
3 | g.57198920T>C | CA353401554 | HESX1 | c.190A>G (p.Asn64Asp) n.851-428A>G | gnomAD v4 |
3 | g.57198920T>G | CA353401555 | HESX1 | c.190A>C (p.Asn64His) n.851-428A>C | |
3 | g.57198921T>A | CA434088153 | HESX1 | c.189A>T (p.Pro63=) n.851-429A>T | |
3 | g.57198921T>C | CA434088156 | HESX1 | c.189A>G (p.Pro63=) n.851-429A>G | |
3 | g.57198921T>G | CA434088158 | HESX1 | c.189A>C (p.Pro63=) n.851-429A>C | |
3 | g.57198922G>A | CA353401556 | HESX1 | c.188C>T (p.Pro63Leu) n.851-430C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.57198922G>C | CA353401557 | HESX1 | c.188C>G (p.Pro63Arg) n.851-430C>G | |
3 | g.57198922G= | CA1367077684 | HESX1 | c.188C= (p.Pro63=) n.851-430C= | |
3 | g.57198922G>T | CA353401558 | HESX1 | c.188C>A (p.Pro63Gln) n.851-430C>A | |
3 | g.57198923G>A | CA353401559 | HESX1 | c.187C>T (p.Pro63Ser) n.851-431C>T | |
3 | g.57198923G>C | CA353401561 | HESX1 | c.187C>G (p.Pro63Ala) n.851-431C>G | |
3 | g.57198923G>T | CA353401560 | HESX1 | c.187C>A (p.Pro63Thr) n.851-431C>A | |
3 | g.57198924G>A | CA434088173 | HESX1 | c.186C>T (p.Val62=) n.851-432C>T | |
3 | g.57198924G>C | CA434088176 | HESX1 | c.186C>G (p.Val62=) n.851-432C>G | |
3 | g.57198924G>T | CA434088178 | HESX1 | c.186C>A (p.Val62=) n.851-432C>A | |
3 | g.57198925A= | CA1367077689 | HESX1 | c.185T= (p.Val62=) n.851-433T= |