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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215727993T>A | CA1393566 | USH2A | c.12066+37A>T (n.12066+37A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215727993T= | CA1147674318 | USH2A | c.12066+37A= (n.12066+37A=) | |
| 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=) |