Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.216246853G>A | CA423431790 | USH2A | c.2541C>T (p.Cys847=) | |
1 | g.216246853G>C | CA344864573 | USH2A | c.2541C>G (p.Cys847Trp) | |
1 | g.216246853G= | CA1148224994 | USH2A | c.2541C= (p.Cys847=) | |
1 | g.216246853G>T | CA273290 | USH2A | c.2541C>A (p.Cys847Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.216246854C>A | CA344864574 | USH2A | c.2540G>T (p.Cys847Phe) | |
1 | g.216246854C>G | CA344864576 | USH2A | c.2540G>C (p.Cys847Ser) | |
1 | g.216246854C>T | CA344864575 | USH2A | c.2540G>A (p.Cys847Tyr) | |
1 | g.216246855A= | CA1220619149 | USH2A | c.2539T= (p.Cys847=) | |
1 | g.216246855A>C | CA344864577 | USH2A | c.2539T>G (p.Cys847Gly) | |
1 | g.216246855A>G | CA37501275 | USH2A | c.2539T>C (p.Cys847Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.216246855A>T | CA344864578 | USH2A | c.2539T>A (p.Cys847Ser) | |
1 | g.216246856A>C | CA423431799 | USH2A | c.2538T>G (p.Pro846=) | |
1 | g.216246856A>G | CA423431801 | USH2A | c.2538T>C (p.Pro846=) | |
1 | g.216246856A>T | CA423431802 | USH2A | c.2538T>A (p.Pro846=) | |
1 | g.216246857G>A | CA344864579 | USH2A | c.2537C>T (p.Pro846Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216246857G>C | CA344864580 | USH2A | c.2537C>G (p.Pro846Arg) | |
1 | g.216246857G= | CA1220619150 | USH2A | c.2537C= (p.Pro846=) | |
1 | g.216246857G>T | CA344864581 | USH2A | c.2537C>A (p.Pro846His) | |
1 | g.216246858G>A | CA1396215 | USH2A | c.2536C>T (p.Pro846Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216246858G>C | CA344864582 | USH2A | c.2536C>G (p.Pro846Ala) | |
1 | g.216246858G= | CA1149061104 | USH2A | c.2536C= (p.Pro846=) | |
1 | g.216246858G>T | CA344864583 | USH2A | c.2536C>A (p.Pro846Thr) | |
1 | g.216246859C>A | CA423431804 | USH2A | c.2535G>T (p.Leu845=) | |
1 | g.216246859C>G | CA423431805 | USH2A | c.2535G>C (p.Leu845=) | |
1 | g.216246859C>T | CA423431806 | USH2A | c.2535G>A (p.Leu845=) | ClinVar dbSNP |
1 | g.216246859_216246860delinsCA | CA1220619151 | USH2A | c.2534_2535delinsTG (p.Leu845=) | |
1 | g.216246863_216246866del | CA2586964549 | USH2A | c.2532_2535del (p.Pro846AlafsTer9) | ClinVar |
1 | g.216246860del | CA915942024 | USH2A | c.2534del (p.Leu845ArgfsTer11) | ClinVar dbSNP |
1 | g.216246860A>C | CA344864586 | USH2A | c.2534T>G (p.Leu845Arg) | |
1 | g.216246860A>G | CA344864585 | USH2A | c.2534T>C (p.Leu845Pro) | |
1 | g.216246860A>T | CA344864584 | USH2A | c.2534T>A (p.Leu845Gln) | |
1 | g.216246861G>A | CA423431810 | USH2A | c.2533C>T (p.Leu845=) | gnomAD v4 |
1 | g.216246861G>C | CA344864587 | USH2A | c.2533C>G (p.Leu845Val) | |
1 | g.216246861G>T | CA344864588 | USH2A | c.2533C>A (p.Leu845Met) | |
1 | g.216246862A>C | CA344864589 | USH2A | c.2532T>G (p.Cys844Trp) | |
1 | g.216246862A>G | CA423431813 | USH2A | c.2532T>C (p.Cys844=) | ClinVar dbSNP |
1 | g.216246862A>T | CA344864590 | USH2A | c.2532T>A (p.Cys844Ter) | |
1 | g.216246863_216246864del | CA2573132759 | USH2A | c.2531_2532del (p.Cys844SerfsTer6) | ClinVar dbSNP |
1 | g.216246863C>A | CA344864591 | USH2A | c.2531G>T (p.Cys844Phe) | |
1 | g.216246863C= | CA1147069712 | USH2A | c.2531G= (p.Cys844=) | |
1 | g.216246863C>G | CA1396216 | USH2A | c.2531G>C (p.Cys844Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.216246863C>T | CA37501309 | USH2A | c.2531G>A (p.Cys844Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216246864A= | CA1220619152 | USH2A | c.2530T= (p.Cys844=) | |
1 | g.216246864A>C | CA344864592 | USH2A | c.2530T>G (p.Cys844Gly) | |
1 | g.216246864A>G | CA344864593 | USH2A | c.2530T>C (p.Cys844Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.216246864A>T | CA344864594 | USH2A | c.2530T>A (p.Cys844Ser) | COSMIC |
1 | g.216246865G>A | CA423431817 | USH2A | c.2529C>T (p.Leu843=) | COSMIC COSMIC COSMIC |
1 | g.216246865G>C | CA423431818 | USH2A | c.2529C>G (p.Leu843=) | |
1 | g.216246865G>T | CA423431819 | USH2A | c.2529C>A (p.Leu843=) | COSMIC COSMIC COSMIC |
1 | g.216246866A= | CA1220619153 | USH2A | c.2528T= (p.Leu843=) |