1 | g.215727995del | CA2650501255 | USH2A | c.12066+36del (n.12066+36del)
| gnomAD v4 |
1 | g.215727996T>C | CA2650501257 | USH2A | c.12066+34A>G (n.12066+34A>G)
| gnomAD v4 |
1 | g.215727997C>A | CA1393568 | USH2A | c.12066+33G>T (n.12066+33G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215727997C= | CA1149135817 | USH2A | c.12066+33G= (n.12066+33G=)
| |
1 | g.215727997C>G | CA1393567 | USH2A | c.12066+33G>C (n.12066+33G>C)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.215727997C>T | CA1393569 | USH2A | c.12066+33G>A (n.12066+33G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215727998T>C | CA2650501262 | USH2A | c.12066+32A>G (n.12066+32A>G)
| gnomAD v4 |
1 | g.215728001A= | CA1220396444 | USH2A | c.12066+29T= (n.12066+29T=)
| |
1 | g.215728001A>G | CA1220396445 | USH2A | c.12066+29T>C (n.12066+29T>C)
| dbSNP gnomAD v4 |
1 | g.215728001A>T | CA1220396446 | USH2A | c.12066+29T>A (n.12066+29T>A)
| dbSNP gnomAD v4 |
1 | g.215728002T>C | CA2650501268 | USH2A | c.12066+28A>G (n.12066+28A>G)
| gnomAD v4 |
1 | g.215728003G>A | CA2650501270 | USH2A | c.12066+27C>T (n.12066+27C>T)
| gnomAD v4 |
1 | g.215728003G= | CA1220396447 | USH2A | c.12066+27C= (n.12066+27C=)
| |
1 | g.215728003G>T | CA528705101 | USH2A | c.12066+27C>A (n.12066+27C>A)
| dbSNP gnomAD v2 |
1 | g.215728004T>C | CA2650501274 | USH2A | c.12066+26A>G (n.12066+26A>G)
| gnomAD v4 |
1 | g.215728004T= | CA1220396448 | USH2A | c.12066+26A= (n.12066+26A=)
| |
1 | g.215728005C>A | CA2541149952 | USH2A | c.12066+25G>T (n.12066+25G>T)
| |
1 | g.215728005C= | CA1220396449 | USH2A | c.12066+25G= (n.12066+25G=)
| |
1 | g.215728005C>T | CA1220396450 | USH2A | c.12066+25G>A (n.12066+25G>A)
| dbSNP gnomAD v4 |
1 | g.215728007_215728012dup | CA731341604 | USH2A | c.12066+20_12066+25dup (n.12066+20_12066+25dup)
| dbSNP |
1 | g.215728008T>A | CA1220396452 | USH2A | c.12066+22A>T (n.12066+22A>T)
| dbSNP gnomAD v4 |
1 | g.215728008T>C | CA1220396453 | USH2A | c.12066+22A>G (n.12066+22A>G)
| dbSNP |
1 | g.215728008T= | CA1220396451 | USH2A | c.12066+22A= (n.12066+22A=)
| |
1 | g.215728009T>A | CA1220396455 | USH2A | c.12066+21A>T (n.12066+21A>T)
| dbSNP gnomAD v4 |
1 | g.215728009T= | CA1220396454 | USH2A | c.12066+21A= (n.12066+21A=)
| |
1 | g.215728011C>G | CA2650501282 | USH2A | c.12066+19G>C (n.12066+19G>C)
| ClinVar gnomAD v4 |
1 | g.215728013T>C | CA2739275627 | USH2A | c.12066+17A>G (n.12066+17A>G)
| ClinVar |
1 | g.215728014T>C | CA2698063467 | USH2A | c.12066+16A>G (n.12066+16A>G)
| dbSNP |
1 | g.215728015T>C | CA2650501284 | USH2A | c.12066+15A>G (n.12066+15A>G)
| gnomAD v4 |
1 | g.215728016C= | CA1220396456 | USH2A | c.12066+14G= (n.12066+14G=)
| |
1 | g.215728016C>G | CA37395076 | USH2A | c.12066+14G>C (n.12066+14G>C)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.215728016C>T | CA2697855174 | USH2A | c.12066+14G>A (n.12066+14G>A)
| ClinVar dbSNP |
1 | g.215728018A>G | CA2697554899 | USH2A | c.12066+12T>C (n.12066+12T>C)
| ClinVar |
1 | g.215728020del | CA2740090501 | USH2A | c.12066+12del (n.12066+12del)
| ClinVar |
1 | g.215728019A= | CA1220396457 | USH2A | c.12066+11T= (n.12066+11T=)
| |
1 | g.215728019A>C | CA731341606 | USH2A | c.12066+11T>G (n.12066+11T>G)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215728021G>A | CA2580062165 | USH2A | c.12066+9C>T (n.12066+9C>T)
| ClinVar gnomAD v4 |
1 | g.215728022G>A | CA731341614 | USH2A | c.12066+8C>T (n.12066+8C>T)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.215728022G>C | CA2574001053 | USH2A | c.12066+8C>G (n.12066+8C>G)
| |
1 | g.215728022G= | CA1220396458 | USH2A | c.12066+8C= (n.12066+8C=)
| |
1 | g.215728023G>A | CA2650501296 | USH2A | c.12066+7C>T (n.12066+7C>T)
| gnomAD v4 |
1 | g.215728023G= | CA1220396459 | USH2A | c.12066+7C= (n.12066+7C=)
| |
1 | g.215728023G>T | CA2573131547 | USH2A | c.12066+7C>A (n.12066+7C>A)
| ClinVar dbSNP |
1 | g.215728025_215728027dup | CA37395079 | USH2A | c.12066+4_12066+6dup (n.12066+4_12066+6dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215728025C>A | CA1393570 | USH2A | c.12066+5G>T (n.12066+5G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215728025C= | CA1220396460 | USH2A | c.12066+5G= (n.12066+5G=)
| |
1 | g.215728025_215728027delinsCTT | CA1220396461 | USH2A | c.12066+3_12066+5delinsAAG (n.12066+3_12066+5delinsAAG)
| |
1 | g.215728026T>C | CA528705103 | USH2A | c.12066+4A>G (n.12066+4A>G)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215728026T= | CA1220396462 | USH2A | c.12066+4A= (n.12066+4A=)
| |
1 | g.215728026_215728027del | CA528705102 | USH2A | c.12066+3_12066+4del (n.12066+3_12066+4del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215728027T>G | CA1393571 | USH2A | c.12066+3A>C (n.12066+3A>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215728027T= | CA1220396463 | USH2A | c.12066+3A= (n.12066+3A=)
| |
1 | g.215728028A>C | CA344826682 | USH2A | c.12066+2T>G (n.12066+2T>G)
| |
1 | g.215728028A>G | CA344826687 | USH2A | c.12066+2T>C (n.12066+2T>C)
| |
1 | g.215728028A>T | CA344826690 | USH2A | c.12066+2T>A (n.12066+2T>A)
| |
1 | g.215728029C>A | CA344826696 | USH2A | c.12066+1G>T (n.12066+1G>T)
| |
1 | g.215728029C>G | CA344826697 | USH2A | c.12066+1G>C (n.12066+1G>C)
| |
1 | g.215728029C>T | CA344826695 | USH2A | c.12066+1G>A (n.12066+1G>A)
| ClinVar dbSNP |
1 | g.215728030C>A | CA37395085 | USH2A | c.12066G>T (p.Lys4022Asn)
| ClinVar dbSNP |
1 | g.215728030C= | CA1220396464 | USH2A | c.12066G= (p.Lys4022=)
| |
1 | g.215728030C>G | CA344826698 | USH2A | c.12066G>C (p.Lys4022Asn)
| |
1 | g.215728030C>T | CA423314350 | USH2A | c.12066G>A (p.Lys4022=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215728031T>A | CA344826700 | USH2A | c.12065A>T (p.Lys4022Met)
| |
1 | g.215728031T>C | CA344826704 | USH2A | c.12065A>G (p.Lys4022Arg)
| |
1 | g.215728031T>G | CA344826712 | USH2A | c.12065A>C (p.Lys4022Thr)
| |
1 | g.215728032T>A | CA344826718 | USH2A | c.12064A>T (p.Lys4022Ter)
| |
1 | g.215728032T>C | CA344826720 | USH2A | c.12064A>G (p.Lys4022Glu)
| |
1 | g.215728032T>G | CA344826722 | USH2A | c.12064A>C (p.Lys4022Gln)
| |
1 | g.215728033C>A | CA423314352 | USH2A | c.12063G>T (p.Val4021=)
| |
1 | g.215728033C= | CA1220396465 | USH2A | c.12063G= (p.Val4021=)
| |
1 | g.215728033C>G | CA423314353 | USH2A | c.12063G>C (p.Val4021=)
| ClinVar dbSNP |
1 | g.215728033C>T | CA423314354 | USH2A | c.12063G>A (p.Val4021=)
| ClinVar |
1 | g.215728034A>C | CA344826724 | USH2A | c.12062T>G (p.Val4021Gly)
| |
1 | g.215728034A>G | CA344826725 | USH2A | c.12062T>C (p.Val4021Ala)
| |
1 | g.215728034A>T | CA344826727 | USH2A | c.12062T>A (p.Val4021Glu)
| |
1 | g.215728035C>A | CA344826730 | USH2A | c.12061G>T (p.Val4021Leu)
| COSMIC COSMIC |
1 | g.215728035C>G | CA344826733 | USH2A | c.12061G>C (p.Val4021Leu)
| |
1 | g.215728035C>T | CA344826729 | USH2A | c.12061G>A (p.Val4021Met)
| gnomAD v4 |
1 | g.215728036T>A | CA423314356 | USH2A | c.12060A>T (p.Thr4020=)
| |
1 | g.215728036T>C | CA423314358 | USH2A | c.12060A>G (p.Thr4020=)
| ClinVar |
1 | g.215728036T>G | CA423314359 | USH2A | c.12060A>C (p.Thr4020=)
| |
1 | g.215728037G>A | CA344826737 | USH2A | c.12059C>T (p.Thr4020Ile)
| |
1 | g.215728037G>C | CA344826740 | USH2A | c.12059C>G (p.Thr4020Arg)
| gnomAD v4 |
1 | g.215728037G>T | CA344826742 | USH2A | c.12059C>A (p.Thr4020Lys)
| |
1 | g.215728038T>A | CA344826744 | USH2A | c.12058A>T (p.Thr4020Ser)
| |
1 | g.215728038T>C | CA344826749 | USH2A | c.12058A>G (p.Thr4020Ala)
| COSMIC COSMIC |
1 | g.215728038T>G | CA344826753 | USH2A | c.12058A>C (p.Thr4020Pro)
| |
1 | g.215728039G>A | CA423314360 | USH2A | c.12057C>T (p.Phe4019=)
| |
1 | g.215728039G>C | CA344826756 | USH2A | c.12057C>G (p.Phe4019Leu)
| |
1 | g.215728039G>T | CA344826763 | USH2A | c.12057C>A (p.Phe4019Leu)
| |
1 | g.215728040A>C | CA344826765 | USH2A | c.12056T>G (p.Phe4019Cys)
| |
1 | g.215728040A>G | CA344826767 | USH2A | c.12056T>C (p.Phe4019Ser)
| |
1 | g.215728040A>T | CA344826771 | USH2A | c.12056T>A (p.Phe4019Tyr)
| |
1 | g.215728041A>C | CA344826772 | USH2A | c.12055T>G (p.Phe4019Val)
| |
1 | g.215728041A>G | CA344826773 | USH2A | c.12055T>C (p.Phe4019Leu)
| |
1 | g.215728041A>T | CA344826774 | USH2A | c.12055T>A (p.Phe4019Ile)
| |
1 | g.215728042A>C | CA423314363 | USH2A | c.12054T>G (p.Ala4018=)
| |
1 | g.215728042A>G | CA423314364 | USH2A | c.12054T>C (p.Ala4018=)
| |
1 | g.215728042A>T | CA423314362 | USH2A | c.12054T>A (p.Ala4018=)
| |
1 | g.215728043G>A | CA344826776 | USH2A | c.12053C>T (p.Ala4018Val)
| dbSNP gnomAD v4 |
1 | g.215728043G>C | CA344826777 | USH2A | c.12053C>G (p.Ala4018Gly)
| |
1 | g.215728043G= | CA1220396466 | USH2A | c.12053C= (p.Ala4018=)
| |
1 | g.215728043G>T | CA344826775 | USH2A | c.12053C>A (p.Ala4018Asp)
| |
1 | g.215728044C>A | CA344826780 | USH2A | c.12052G>T (p.Ala4018Ser)
| |
1 | g.215728044C= | CA1220396467 | USH2A | c.12052G= (p.Ala4018=)
| |
1 | g.215728044C>G | CA344826783 | USH2A | c.12052G>C (p.Ala4018Pro)
| gnomAD v4 |
1 | g.215728044C>T | CA344826789 | USH2A | c.12052G>A (p.Ala4018Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215728045A= | CA1220396468 | USH2A | c.12051T= (p.His4017=)
| |
1 | g.215728045A>C | CA344826793 | USH2A | c.12051T>G (p.His4017Gln)
| dbSNP |
1 | g.215728045A>G | CA1393572 | USH2A | c.12051T>C (p.His4017=)
| dbSNP ExAC gnomAD v4 COSMIC COSMIC |
1 | g.215728045A>T | CA344826798 | USH2A | c.12051T>A (p.His4017Gln)
| |
1 | g.215728046T>A | CA344826801 | USH2A | c.12050A>T (p.His4017Leu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215728046T>C | CA344826804 | USH2A | c.12050A>G (p.His4017Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215728046T>G | CA344826806 | USH2A | c.12050A>C (p.His4017Pro)
| |
1 | g.215728046T= | CA1220396469 | USH2A | c.12050A= (p.His4017=)
| |
1 | g.215728047G>A | CA344826809 | USH2A | c.12049C>T (p.His4017Tyr)
| |
1 | g.215728047G>C | CA344826811 | USH2A | c.12049C>G (p.His4017Asp)
| |
1 | g.215728047G= | CA1143884250 | USH2A | c.12049C= (p.His4017=)
| |
1 | g.215728047G>T | CA37395088 | USH2A | c.12049C>A (p.His4017Asn)
| dbSNP gnomAD v4 |
1 | g.215728048C>A | CA423314368 | USH2A | c.12048G>T (p.Val4016=)
| |
1 | g.215728048C= | CA1220396470 | USH2A | c.12048G= (p.Val4016=)
| |
1 | g.215728048C>G | CA423314366 | USH2A | c.12048G>C (p.Val4016=)
| |
1 | g.215728048C>T | CA423314367 | USH2A | c.12048G>A (p.Val4016=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215728049A= | CA1220396471 | USH2A | c.12047T= (p.Val4016=)
| |
1 | g.215728049A>C | CA344826817 | USH2A | c.12047T>G (p.Val4016Gly)
| |
1 | g.215728049A>G | CA344826816 | USH2A | c.12047T>C (p.Val4016Ala)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215728049A>T | CA344826814 | USH2A | c.12047T>A (p.Val4016Glu)
| COSMIC COSMIC |
1 | g.215728050C>A | CA344826818 | USH2A | c.12046G>T (p.Val4016Leu)
| |
1 | g.215728050C= | CA1141640806 | USH2A | c.12046G= (p.Val4016=)
| |
1 | g.215728050C>G | CA344826819 | USH2A | c.12046G>C (p.Val4016Leu)
| |
1 | g.215728050C>T | CA179519 | USH2A | c.12046G>A (p.Val4016Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215728051G>A | CA1393574 | USH2A | c.12045C>T (p.Thr4015=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215728051G>C | CA423314370 | USH2A | c.12045C>G (p.Thr4015=)
| ClinVar |
1 | g.215728051G= | CA1220396472 | USH2A | c.12045C= (p.Thr4015=)
| |
1 | g.215728051G>T | CA1393573 | USH2A | c.12045C>A (p.Thr4015=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215728052del | CA2695199984 | USH2A | c.12045del (p.Val4016CysfsTer6)
| ClinVar |
1 | g.215728052G>A | CA344826825 | USH2A | c.12044C>T (p.Thr4015Ile)
| |
1 | g.215728052G>C | CA344826827 | USH2A | c.12044C>G (p.Thr4015Ser)
| |
1 | g.215728052G>T | CA344826830 | USH2A | c.12044C>A (p.Thr4015Asn)
| |
1 | g.215728053T>A | CA344826832 | USH2A | c.12043A>T (p.Thr4015Ser)
| |
1 | g.215728053T>C | CA344826833 | USH2A | c.12043A>G (p.Thr4015Ala)
| |
1 | g.215728053T>G | CA344826834 | USH2A | c.12043A>C (p.Thr4015Pro)
| |
1 | g.215728054del | CA645537389 | USH2A | c.12042del (p.Thr4015ProfsTer7)
| COSMIC COSMIC |
1 | g.215728054A>C | CA423314372 | USH2A | c.12042T>G (p.Pro4014=)
| |
1 | g.215728054A>G | CA423314373 | USH2A | c.12042T>C (p.Pro4014=)
| |
1 | g.215728054A>T | CA423314374 | USH2A | c.12042T>A (p.Pro4014=)
| |
1 | g.215728055G>A | CA344826835 | USH2A | c.12041C>T (p.Pro4014Leu)
| |
1 | g.215728055G>C | CA344826836 | USH2A | c.12041C>G (p.Pro4014Arg)
| |
1 | g.215728055G>T | CA344826837 | USH2A | c.12041C>A (p.Pro4014His)
| |
1 | g.215728056G>A | CA344826841 | USH2A | c.12040C>T (p.Pro4014Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215728056G>C | CA344826851 | USH2A | c.12040C>G (p.Pro4014Ala)
| |
1 | g.215728056G= | CA1220396473 | USH2A | c.12040C= (p.Pro4014=)
| |
1 | g.215728056G>T | CA344826839 | USH2A | c.12040C>A (p.Pro4014Thr)
| |
1 | g.215728057G>A | CA37395116 | USH2A | c.12039C>T (p.Ser4013=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.215728057G>C | CA344826853 | USH2A | c.12039C>G (p.Ser4013Arg)
| |
1 | g.215728057G= | CA1220396474 | USH2A | c.12039C= (p.Ser4013=)
| |
1 | g.215728057G>T | CA344826859 | USH2A | c.12039C>A (p.Ser4013Arg)
| |
1 | g.215728058C>A | CA344826861 | USH2A | c.12038G>T (p.Ser4013Ile)
| |
1 | g.215728058C>G | CA344826865 | USH2A | c.12038G>C (p.Ser4013Thr)
| |
1 | g.215728058C>T | CA344826867 | USH2A | c.12038G>A (p.Ser4013Asn)
| |
1 | g.215728059T>A | CA344826872 | USH2A | c.12037A>T (p.Ser4013Cys)
| |
1 | g.215728059T>C | CA344826873 | USH2A | c.12037A>G (p.Ser4013Gly)
| dbSNP |
1 | g.215728059T>G | CA344826874 | USH2A | c.12037A>C (p.Ser4013Arg)
| |
1 | g.215728059T= | CA1220396475 | USH2A | c.12037A= (p.Ser4013=)
| |
1 | g.215728060G>A | CA423314375 | USH2A | c.12036C>T (p.Asn4012=)
| |
1 | g.215728060G>C | CA344826875 | USH2A | c.12036C>G (p.Asn4012Lys)
| |
1 | g.215728060G>T | CA344826876 | USH2A | c.12036C>A (p.Asn4012Lys)
| |
1 | g.215728061T>A | CA344826877 | USH2A | c.12035A>T (p.Asn4012Ile)
| |
1 | g.215728061T>C | CA344826880 | USH2A | c.12035A>G (p.Asn4012Ser)
| |
1 | g.215728061T>G | CA344826881 | USH2A | c.12035A>C (p.Asn4012Thr)
| |
1 | g.215728062T>A | CA344826886 | USH2A | c.12034A>T (p.Asn4012Tyr)
| |
1 | g.215728062T>C | CA344826884 | USH2A | c.12034A>G (p.Asn4012Asp)
| |
1 | g.215728062T>G | CA344826885 | USH2A | c.12034A>C (p.Asn4012His)
| |
1 | g.215728063A= | CA1220396476 | USH2A | c.12033T= (p.Phe4011=)
| |
1 | g.215728063A>C | CA344826889 | USH2A | c.12033T>G (p.Phe4011Leu)
| |
1 | g.215728063A>G | CA1393575 | USH2A | c.12033T>C (p.Phe4011=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215728063A>T | CA344826891 | USH2A | c.12033T>A (p.Phe4011Leu)
| |
1 | g.215728064A>C | CA344826894 | USH2A | c.12032T>G (p.Phe4011Cys)
| gnomAD v4 |
1 | g.215728064A>G | CA344826897 | USH2A | c.12032T>C (p.Phe4011Ser)
| |
1 | g.215728064A>T | CA344826899 | USH2A | c.12032T>A (p.Phe4011Tyr)
| |
1 | g.215728065A= | CA1220396477 | USH2A | c.12031T= (p.Phe4011=)
| |
1 | g.215728065A>C | CA344826902 | USH2A | c.12031T>G (p.Phe4011Val)
| |
1 | g.215728065A>G | CA344826910 | USH2A | c.12031T>C (p.Phe4011Leu)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215728065A>T | CA344826912 | USH2A | c.12031T>A (p.Phe4011Ile)
| |
1 | g.215728066T>A | CA423314376 | USH2A | c.12030A>T (p.Thr4010=)
| |
1 | g.215728066T>C | CA423314377 | USH2A | c.12030A>G (p.Thr4010=)
| ClinVar dbSNP gnomAD v4 |
1 | g.215728066T>G | CA423314378 | USH2A | c.12030A>C (p.Thr4010=)
| |
1 | g.215728066T= | CA1220396478 | USH2A | c.12030A= (p.Thr4010=)
| |
1 | g.215728067G>A | CA37395126 | USH2A | c.12029C>T (p.Thr4010Ile)
| dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.215728067G>C | CA344826917 | USH2A | c.12029C>G (p.Thr4010Arg)
| |
1 | g.215728067G= | CA1220396479 | USH2A | c.12029C= (p.Thr4010=)
| |
1 | g.215728067G>T | CA344826920 | USH2A | c.12029C>A (p.Thr4010Lys)
| |
1 | g.215728068T>A | CA344826925 | USH2A | c.12028A>T (p.Thr4010Ser)
| |
1 | g.215728068T>C | CA1393576 | USH2A | c.12028A>G (p.Thr4010Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.215728068T>G | CA344826923 | USH2A | c.12028A>C (p.Thr4010Pro)
| |
1 | g.215728068T= | CA1220396480 | USH2A | c.12028A= (p.Thr4010=)
| |
1 | g.215728069A= | CA1220396481 | USH2A | c.12027T= (p.Pro4009=)
| |
1 | g.215728069A>C | CA423314379 | USH2A | c.12027T>G (p.Pro4009=)
| |
1 | g.215728069A>G | CA423314380 | USH2A | c.12027T>C (p.Pro4009=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215728069A>T | CA1393577 | USH2A | c.12027T>A (p.Pro4009=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215728070G>A | CA344826933 | USH2A | c.12026C>T (p.Pro4009Leu)
| |
1 | g.215728070G>C | CA344826938 | USH2A | c.12026C>G (p.Pro4009Arg)
| |
1 | g.215728070G>T | CA344826935 | USH2A | c.12026C>A (p.Pro4009His)
| |
1 | g.215728071G>A | CA344826940 | USH2A | c.12025C>T (p.Pro4009Ser)
| gnomAD v4 COSMIC COSMIC |
1 | g.215728071G>C | CA344826941 | USH2A | c.12025C>G (p.Pro4009Ala)
| |
1 | g.215728071G>T | CA344826943 | USH2A | c.12025C>A (p.Pro4009Thr)
| |
1 | g.215728072A>C | CA344826945 | USH2A | c.12024T>G (p.Asp4008Glu)
| |
1 | g.215728072A>G | CA423314381 | USH2A | c.12024T>C (p.Asp4008=)
| |
1 | g.215728072A>T | CA344826949 | USH2A | c.12024T>A (p.Asp4008Glu)
| |
1 | g.215728072_215728075delinsATCG | CA1220396482 | USH2A | c.12021_12024delinsCGAT (p.Asp4007=)
| |
1 | g.215728073T>A | CA344826952 | USH2A | c.12023A>T (p.Asp4008Val)
| |
1 | g.215728073T>C | CA344826955 | USH2A | c.12023A>G (p.Asp4008Gly)
| |
1 | g.215728073T>G | CA344826958 | USH2A | c.12023A>C (p.Asp4008Ala)
| |
1 | g.215728076_215728078del | CA1393578 | USH2A | c.12021_12023del (p.Asp4008del)
| dbSNP ExAC gnomAD v2 |
1 | g.215728074C>A | CA344826960 | USH2A | c.12022G>T (p.Asp4008Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215728074C= | CA1220396483 | USH2A | c.12022G= (p.Asp4008=)
| |
1 | g.215728074C>G | CA344826962 | USH2A | c.12022G>C (p.Asp4008His)
| |
1 | g.215728074C>T | CA37395151 | USH2A | c.12022G>A (p.Asp4008Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.215728075G>A | CA423314382 | USH2A | c.12021C>T (p.Asp4007=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.215728075G>C | CA344826965 | USH2A | c.12021C>G (p.Asp4007Glu)
| |
1 | g.215728075G= | CA1220396484 | USH2A | c.12021C= (p.Asp4007=)
| |
1 | g.215728075G>T | CA344826963 | USH2A | c.12021C>A (p.Asp4007Glu)
| |
1 | g.215728075_215728076dup | CA2650501417 | USH2A | c.12020_12021dup (p.Asp4008ThrfsTer15)
| gnomAD v4 |
1 | g.215728076T>A | CA344826968 | USH2A | c.12020A>T (p.Asp4007Val)
| |
1 | g.215728076T>C | CA344826970 | USH2A | c.12020A>G (p.Asp4007Gly)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215728076T>G | CA344826973 | USH2A | c.12020A>C (p.Asp4007Ala)
| |
1 | g.215728076T= | CA1220396485 | USH2A | c.12020A= (p.Asp4007=)
| |
1 | g.215728077C>A | CA344826975 | USH2A | c.12019G>T (p.Asp4007Tyr)
| |
1 | g.215728077C= | CA1220396486 | USH2A | c.12019G= (p.Asp4007=)
| |
1 | g.215728077C>G | CA344826981 | USH2A | c.12019G>C (p.Asp4007His)
| |
1 | g.215728077C>T | CA1393579 | USH2A | c.12019G>A (p.Asp4007Asn)
| ClinVar dbSNP ExAC gnomAD v4 COSMIC |
1 | g.215728078G>A | CA1393580 | USH2A | c.12018C>T (p.Pro4006=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.215728078G>C | CA423314383 | USH2A | c.12018C>G (p.Pro4006=)
| |
1 | g.215728078G= | CA1220396487 | USH2A | c.12018C= (p.Pro4006=)
| |
1 | g.215728078G>T | CA423314384 | USH2A | c.12018C>A (p.Pro4006=)
| COSMIC COSMIC |
1 | g.215728079G>A | CA344826991 | USH2A | c.12017C>T (p.Pro4006Leu)
| gnomAD v4 |
1 | g.215728079G>C | CA344826992 | USH2A | c.12017C>G (p.Pro4006Arg)
| |
1 | g.215728079G>T | CA344827005 | USH2A | c.12017C>A (p.Pro4006His)
| |
1 | g.215728080G>A | CA344827007 | USH2A | c.12016C>T (p.Pro4006Ser)
| ClinVar gnomAD v4 |
1 | g.215728080G>C | CA344827016 | USH2A | c.12016C>G (p.Pro4006Ala)
| |
1 | g.215728080G>T | CA344827017 | USH2A | c.12016C>A (p.Pro4006Thr)
| |
1 | g.215728081T>A | CA344827020 | USH2A | c.12015A>T (p.Arg4005Ser)
| |
1 | g.215728081T>C | CA423314385 | USH2A | c.12015A>G (p.Arg4005=)
| |
1 | g.215728081T>G | CA344827021 | USH2A | c.12015A>C (p.Arg4005Ser)
| dbSNP |
1 | g.215728081T= | CA1220396488 | USH2A | c.12015A= (p.Arg4005=)
| |
1 | g.215728082C>A | CA344827023 | USH2A | c.12014G>T (p.Arg4005Ile)
| COSMIC COSMIC |
1 | g.215728082C= | CA1220396489 | USH2A | c.12014G= (p.Arg4005=)
| |
1 | g.215728082C>G | CA344827025 | USH2A | c.12014G>C (p.Arg4005Thr)
| |
1 | g.215728082C>T | CA1393581 | USH2A | c.12014G>A (p.Arg4005Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215728083T>A | CA344827026 | USH2A | c.12013A>T (p.Arg4005Ter)
| |
1 | g.215728083T>C | CA344827027 | USH2A | c.12013A>G (p.Arg4005Gly)
| |
1 | g.215728083T>G | CA423314386 | USH2A | c.12013A>C (p.Arg4005=)
| |
1 | g.215728084C>A | CA344827028 | USH2A | c.12012G>T (p.Glu4004Asp)
| |
1 | g.215728084C= | CA1220396490 | USH2A | c.12012G= (p.Glu4004=)
| |
1 | g.215728084C>G | CA344827029 | USH2A | c.12012G>C (p.Glu4004Asp)
| COSMIC COSMIC |
1 | g.215728084C>T | CA423314387 | USH2A | c.12012G>A (p.Glu4004=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.215728085T>A | CA344827030 | USH2A | c.12011A>T (p.Glu4004Val)
| |
1 | g.215728085T>C | CA37395200 | USH2A | c.12011A>G (p.Glu4004Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215728085T>G | CA344827031 | USH2A | c.12011A>C (p.Glu4004Ala)
| |
1 | g.215728085T= | CA1220396491 | USH2A | c.12011A= (p.Glu4004=)
| |
1 | g.215728086C>A | CA344827032 | USH2A | c.12010G>T (p.Glu4004Ter)
| gnomAD v4 |
1 | g.215728086C= | CA1220396492 | USH2A | c.12010G= (p.Glu4004=)
| |
1 | g.215728086C>G | CA344827033 | USH2A | c.12010G>C (p.Glu4004Gln)
| dbSNP |
1 | g.215728086C>T | CA344827034 | USH2A | c.12010G>A (p.Glu4004Lys)
| |
1 | g.215728087C>A | CA344827036 | USH2A | c.12009G>T (p.Gln4003His)
| gnomAD v4 |
1 | g.215728087C>G | CA344827035 | USH2A | c.12009G>C (p.Gln4003His)
| |
1 | g.215728087C>T | CA423314388 | USH2A | c.12009G>A (p.Gln4003=)
| |
1 | g.215728088T>A | CA344827037 | USH2A | c.12008A>T (p.Gln4003Leu)
| COSMIC COSMIC |
1 | g.215728088T>C | CA344827038 | USH2A | c.12008A>G (p.Gln4003Arg)
| |
1 | g.215728088T>G | CA344827039 | USH2A | c.12008A>C (p.Gln4003Pro)
| |
1 | g.215728089G>A | CA344827040 | USH2A | c.12007C>T (p.Gln4003Ter)
| |
1 | g.215728089G>C | CA344827041 | USH2A | c.12007C>G (p.Gln4003Glu)
| gnomAD v4 |
1 | g.215728089G>T | CA344827042 | USH2A | c.12007C>A (p.Gln4003Lys)
| |
1 | g.215728090G>A | CA423314389 | USH2A | c.12006C>T (p.Tyr4002=)
| |
1 | g.215728090G>C | CA344827043 | USH2A | c.12006C>G (p.Tyr4002Ter)
| |
1 | g.215728090G>T | CA344827044 | USH2A | c.12006C>A (p.Tyr4002Ter)
| ClinVar dbSNP gnomAD v4 |
1 | g.215728091T>A | CA344827045 | USH2A | c.12005A>T (p.Tyr4002Phe)
| |
1 | g.215728091T>C | CA1393582 | USH2A | c.12005A>G (p.Tyr4002Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215728091T>G | CA344827046 | USH2A | c.12005A>C (p.Tyr4002Ser)
| |
1 | g.215728091T= | CA1220396493 | USH2A | c.12005A= (p.Tyr4002=)
| |
1 | g.215728092A= | CA1220396494 | USH2A | c.12004T= (p.Tyr4002=)
| |
1 | g.215728092A>C | CA344827049 | USH2A | c.12004T>G (p.Tyr4002Asp)
| |
1 | g.215728092A>G | CA1393584 | USH2A | c.12004T>C (p.Tyr4002His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215728092A>T | CA1393583 | USH2A | c.12004T>A (p.Tyr4002Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215728092_215728199delinsAGACCACACGGTAATGGGAGATAATGCCATTGGGAGATTCTGGCTTTGTCCAATTCAACAGAACTGAATGAGCACTCGTGGCTTGAGCCCAAGGAGCTGGAAAATCTT | CA1220396495 | USH2A | c.11897_12004delinsAAGATTTTCCAGCTCCTTGGGCTCAAGCCACGAGTGCTCATTCAGTTCTGTTGAATTGGACAAAGCCAGAATCTCCCAATGGCATTATCTCCCATTACCGTGTGGTCT (p.Gln3966=)
| |
1 | g.215728093G>A | CA423314390 | USH2A | c.12003C>T (p.Val4001=)
| |
1 | g.215728093G>C | CA423314391 | USH2A | c.12003C>G (p.Val4001=)
| |
1 | g.215728093G= | CA1220396496 | USH2A | c.12003C= (p.Val4001=)
| |
1 | g.215728093G>T | CA1393585 | USH2A | c.12003C>A (p.Val4001=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215728095_215728201del | CA1139656579 | USH2A | c.11897_12003del (p.Gln3966LeufsTer11)
| ClinVar dbSNP |
1 | g.215728094A>C | CA344827066 | USH2A | c.12002T>G (p.Val4001Gly)
| |
1 | g.215728094A>G | CA344827061 | USH2A | c.12002T>C (p.Val4001Ala)
| |
1 | g.215728094A>T | CA344827065 | USH2A | c.12002T>A (p.Val4001Asp)
| |
1 | g.215728095C>A | CA344827068 | USH2A | c.12001G>T (p.Val4001Phe)
| |
1 | g.215728095C>G | CA344827070 | USH2A | c.12001G>C (p.Val4001Leu)
| |
1 | g.215728095C>T | CA344827072 | USH2A | c.12001G>A (p.Val4001Ile)
| |