| 1 | g.215673953_215675415del | CA1139656543 | USH2A | c.12497_13811+148del
| ClinVar |
| 1 | g.215674345A>C | CA423427759 | USH2A | c.13566T>G (p.Leu4522=)
| |
| 1 | g.215674345A>G | CA423427756 | USH2A | c.13566T>C (p.Leu4522=)
| |
| 1 | g.215674345A>T | CA423427754 | USH2A | c.13566T>A (p.Leu4522=)
| |
| 1 | g.215674346A>C | CA344844577 | USH2A | c.13565T>G (p.Leu4522Arg)
| |
| 1 | g.215674346A>G | CA344844582 | USH2A | c.13565T>C (p.Leu4522Pro)
| |
| 1 | g.215674346A>T | CA344844579 | USH2A | c.13565T>A (p.Leu4522His)
| |
| 1 | g.215674347G>A | CA344844587 | USH2A | c.13564C>T (p.Leu4522Phe)
| dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.215674347G>C | CA344844588 | USH2A | c.13564C>G (p.Leu4522Val)
| |
| 1 | g.215674347G= | CA1220373516 | USH2A | c.13564C= (p.Leu4522=)
| |
| 1 | g.215674347G>T | CA344844590 | USH2A | c.13564C>A (p.Leu4522Ile)
| |
| 1 | g.215674348A= | CA1141697644 | USH2A | c.13563T= (p.Pro4521=)
| |
| 1 | g.215674348A>C | CA423427765 | USH2A | c.13563T>G (p.Pro4521=)
| |
| 1 | g.215674348A>G | CA1393266 | USH2A | c.13563T>C (p.Pro4521=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674348A>T | CA423427766 | USH2A | c.13563T>A (p.Pro4521=)
| |
| 1 | g.215674349G>A | CA37412329 | USH2A | c.13562C>T (p.Pro4521Leu)
| dbSNP |
| 1 | g.215674349G>C | CA344844594 | USH2A | c.13562C>G (p.Pro4521Arg)
| |
| 1 | g.215674349G= | CA1220373517 | USH2A | c.13562C= (p.Pro4521=)
| |
| 1 | g.215674349G>T | CA344844596 | USH2A | c.13562C>A (p.Pro4521His)
| gnomAD v4 |
| 1 | g.215674350G>A | CA344844598 | USH2A | c.13561C>T (p.Pro4521Ser)
| COSMIC COSMIC |
| 1 | g.215674350G>C | CA344844601 | USH2A | c.13561C>G (p.Pro4521Ala)
| |
| 1 | g.215674350G>T | CA344844604 | USH2A | c.13561C>A (p.Pro4521Thr)
| |
| 1 | g.215674351A>C | CA344844606 | USH2A | c.13560T>G (p.Ser4520Arg)
| |
| 1 | g.215674351A>G | CA423427775 | USH2A | c.13560T>C (p.Ser4520=)
| |
| 1 | g.215674351A>T | CA344844608 | USH2A | c.13560T>A (p.Ser4520Arg)
| gnomAD v4 |
| 1 | g.215674352C>A | CA344844616 | USH2A | c.13559G>T (p.Ser4520Ile)
| |
| 1 | g.215674352C>G | CA344844613 | USH2A | c.13559G>C (p.Ser4520Thr)
| |
| 1 | g.215674352C>T | CA344844609 | USH2A | c.13559G>A (p.Ser4520Asn)
| COSMIC COSMIC |
| 1 | g.215674353T>A | CA344844619 | USH2A | c.13558A>T (p.Ser4520Cys)
| |
| 1 | g.215674353T>C | CA344844624 | USH2A | c.13558A>G (p.Ser4520Gly)
| |
| 1 | g.215674353T>G | CA344844621 | USH2A | c.13558A>C (p.Ser4520Arg)
| |
| 1 | g.215674354C>A | CA344844627 | USH2A | c.13557G>T (p.Leu4519Phe)
| |
| 1 | g.215674354C= | CA1220373518 | USH2A | c.13557G= (p.Leu4519=)
| |
| 1 | g.215674354C>G | CA344844629 | USH2A | c.13557G>C (p.Leu4519Phe)
| |
| 1 | g.215674354C>T | CA423427803 | USH2A | c.13557G>A (p.Leu4519=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674354_215674355del | CA913072751 | USH2A | c.13556_13557del (p.Leu4519Ter)
| |
| 1 | g.215674354_215674355delinsCA | CA1220373519 | USH2A | c.13556_13557delinsTG (p.Leu4519=)
| |
| 1 | g.215674355A>C | CA344844632 | USH2A | c.13556T>G (p.Leu4519Trp)
| |
| 1 | g.215674355A>G | CA344844635 | USH2A | c.13556T>C (p.Leu4519Ser)
| |
| 1 | g.215674355A>T | CA344844636 | USH2A | c.13556T>A (p.Leu4519Ter)
| |
| 1 | g.215674358del | CA658822640 | USH2A | c.13556del (p.Leu4519Ter)
| ClinVar dbSNP |
| 1 | g.215674356A= | CA1220373520 | USH2A | c.13555T= (p.Leu4519=)
| |
| 1 | g.215674356A>C | CA344844638 | USH2A | c.13555T>G (p.Leu4519Val)
| |
| 1 | g.215674356A>G | CA423427809 | USH2A | c.13555T>C (p.Leu4519=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215674356A>T | CA344844639 | USH2A | c.13555T>A (p.Leu4519Met)
| |
| 1 | g.215674356_215674357insG | CA2650500254 | USH2A | c.13554_13555insC (p.Ser4520GlufsTer?)
| gnomAD v4 |
| 1 | g.215674357A>C | CA344844642 | USH2A | c.13554T>G (p.Ile4518Met)
| |
| 1 | g.215674357A>G | CA423427814 | USH2A | c.13554T>C (p.Ile4518=)
| |
| 1 | g.215674357A>T | CA423427815 | USH2A | c.13554T>A (p.Ile4518=)
| |
| 1 | g.215674358A>C | CA344844643 | USH2A | c.13553T>G (p.Ile4518Ser)
| gnomAD v4 |
| 1 | g.215674358A>G | CA344844644 | USH2A | c.13553T>C (p.Ile4518Thr)
| ClinVar gnomAD v4 |
| 1 | g.215674358A>T | CA344844645 | USH2A | c.13553T>A (p.Ile4518Asn)
| |
| 1 | g.215674359T>A | CA344844646 | USH2A | c.13552A>T (p.Ile4518Phe)
| |
| 1 | g.215674359T>C | CA344844647 | USH2A | c.13552A>G (p.Ile4518Val)
| gnomAD v4 |
| 1 | g.215674359T>G | CA344844648 | USH2A | c.13552A>C (p.Ile4518Leu)
| gnomAD v4 |
| 1 | g.215674360A>C | CA423427826 | USH2A | c.13551T>G (p.Gly4517=)
| |
| 1 | g.215674360A>G | CA423427827 | USH2A | c.13551T>C (p.Gly4517=)
| |
| 1 | g.215674360A>T | CA423427830 | USH2A | c.13551T>A (p.Gly4517=)
| |
| 1 | g.215674360_215674361delinsAC | CA1220373521 | USH2A | c.13550_13551delinsGT (p.Gly4517=)
| |
| 1 | g.215674361C>A | CA1393268 | USH2A | c.13550G>T (p.Gly4517Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674361C= | CA1220373522 | USH2A | c.13550G= (p.Gly4517=)
| |
| 1 | g.215674361C>G | CA344844658 | USH2A | c.13550G>C (p.Gly4517Ala)
| |
| 1 | g.215674361C>T | CA344844656 | USH2A | c.13550G>A (p.Gly4517Asp)
| gnomAD v4 |
| 1 | g.215674361_215674365delinsCCCCC | CA1148879160 | USH2A | c.13546_13550delinsGGGGG (p.Gly4516=)
| |
| 1 | g.215674365dup | CA2650500255 | USH2A | c.13550dup (p.Ile4518TyrfsTer?)
| gnomAD v4 |
| 1 | g.215674365del | CA1393267 | USH2A | c.13550del (p.Gly4517ValfsTer3)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215674362C>A | CA344844660 | USH2A | c.13549G>T (p.Gly4517Cys)
| |
| 1 | g.215674362C= | CA1220373523 | USH2A | c.13549G= (p.Gly4517=)
| |
| 1 | g.215674362C>G | CA1393269 | USH2A | c.13549G>C (p.Gly4517Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215674362C>T | CA344844664 | USH2A | c.13549G>A (p.Gly4517Ser)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215674363C>A | CA423427850 | USH2A | c.13548G>T (p.Gly4516=)
| |
| 1 | g.215674363C= | CA1220373524 | USH2A | c.13548G= (p.Gly4516=)
| |
| 1 | g.215674363C>G | CA423427852 | USH2A | c.13548G>C (p.Gly4516=)
| |
| 1 | g.215674363C>T | CA1393270 | USH2A | c.13548G>A (p.Gly4516=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215674364C>A | CA344844667 | USH2A | c.13547G>T (p.Gly4516Val)
| gnomAD v4 |
| 1 | g.215674364C= | CA1220373525 | USH2A | c.13547G= (p.Gly4516=)
| |
| 1 | g.215674364C>G | CA344844669 | USH2A | c.13547G>C (p.Gly4516Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215674364C>T | CA1393271 | USH2A | c.13547G>A (p.Gly4516Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674365C>A | CA344844674 | USH2A | c.13546G>T (p.Gly4516Trp)
| ClinVar gnomAD v4 |
| 1 | g.215674365C>G | CA344844676 | USH2A | c.13546G>C (p.Gly4516Arg)
| |
| 1 | g.215674365C>T | CA344844678 | USH2A | c.13546G>A (p.Gly4516Arg)
| COSMIC COSMIC |
| 1 | g.215674366T>A | CA344844682 | USH2A | c.13545A>T (p.Gln4515His)
| |
| 1 | g.215674366T>C | CA423427861 | USH2A | c.13545A>G (p.Gln4515=)
| gnomAD v4 |
| 1 | g.215674366T>G | CA344844679 | USH2A | c.13545A>C (p.Gln4515His)
| |
| 1 | g.215674367T>A | CA344844697 | USH2A | c.13544A>T (p.Gln4515Leu)
| |
| 1 | g.215674367T>C | CA344844699 | USH2A | c.13544A>G (p.Gln4515Arg)
| |
| 1 | g.215674367T>G | CA344844701 | USH2A | c.13544A>C (p.Gln4515Pro)
| |
| 1 | g.215674368G>A | CA344844704 | USH2A | c.13543C>T (p.Gln4515Ter)
| ClinVar |
| 1 | g.215674368G>C | CA344844705 | USH2A | c.13543C>G (p.Gln4515Glu)
| |
| 1 | g.215674368G>T | CA344844707 | USH2A | c.13543C>A (p.Gln4515Lys)
| |
| 1 | g.215674369G>A | CA423427227 | USH2A | c.13542C>T (p.Ser4514=)
| |
| 1 | g.215674369G>C | CA344844709 | USH2A | c.13542C>G (p.Ser4514Arg)
| |
| 1 | g.215674369G>T | CA344844713 | USH2A | c.13542C>A (p.Ser4514Arg)
| |
| 1 | g.215674370C>A | CA344844714 | USH2A | c.13541G>T (p.Ser4514Ile)
| |
| 1 | g.215674370C= | CA1220373526 | USH2A | c.13541G= (p.Ser4514=)
| |
| 1 | g.215674370C>G | CA344844715 | USH2A | c.13541G>C (p.Ser4514Thr)
| |
| 1 | g.215674370C>T | CA37412353 | USH2A | c.13541G>A (p.Ser4514Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215674371T>A | CA344844724 | USH2A | c.13540A>T (p.Ser4514Cys)
| |
| 1 | g.215674371T>C | CA344844726 | USH2A | c.13540A>G (p.Ser4514Gly)
| |
| 1 | g.215674371T>G | CA344844729 | USH2A | c.13540A>C (p.Ser4514Arg)
| |
| 1 | g.215674372G>A | CA1393272 | USH2A | c.13539C>T (p.Asn4513=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674372G>C | CA344844735 | USH2A | c.13539C>G (p.Asn4513Lys)
| |
| 1 | g.215674372G= | CA1220373527 | USH2A | c.13539C= (p.Asn4513=)
| |
| 1 | g.215674372G>T | CA344844732 | USH2A | c.13539C>A (p.Asn4513Lys)
| |
| 1 | g.215674373T>A | CA344844740 | USH2A | c.13538A>T (p.Asn4513Ile)
| |
| 1 | g.215674373T>C | CA344844742 | USH2A | c.13538A>G (p.Asn4513Ser)
| |
| 1 | g.215674373T>G | CA344844746 | USH2A | c.13538A>C (p.Asn4513Thr)
| |
| 1 | g.215674374T>A | CA344844749 | USH2A | c.13537A>T (p.Asn4513Tyr)
| |
| 1 | g.215674374T>C | CA344844755 | USH2A | c.13537A>G (p.Asn4513Asp)
| |
| 1 | g.215674374T>G | CA344844758 | USH2A | c.13537A>C (p.Asn4513His)
| |
| 1 | g.215674375G>A | CA423427239 | USH2A | c.13536C>T (p.Ser4512=)
| |
| 1 | g.215674375G>C | CA344844769 | USH2A | c.13536C>G (p.Ser4512Arg)
| |
| 1 | g.215674375G>T | CA344844771 | USH2A | c.13536C>A (p.Ser4512Arg)
| ClinVar |
| 1 | g.215674376C>A | CA344844780 | USH2A | c.13535G>T (p.Ser4512Ile)
| |
| 1 | g.215674376C= | CA1143893956 | USH2A | c.13535G= (p.Ser4512=)
| |
| 1 | g.215674376C>G | CA344844783 | USH2A | c.13535G>C (p.Ser4512Thr)
| |
| 1 | g.215674376C>T | CA1393273 | USH2A | c.13535G>A (p.Ser4512Asn)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215674377T>A | CA344844789 | USH2A | c.13534A>T (p.Ser4512Cys)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215674377T>C | CA344844798 | USH2A | c.13534A>G (p.Ser4512Gly)
| ClinVar dbSNP |
| 1 | g.215674377T>G | CA344844800 | USH2A | c.13534A>C (p.Ser4512Arg)
| |
| 1 | g.215674377T= | CA1220373528 | USH2A | c.13534A= (p.Ser4512=)
| |
| 1 | g.215674378G>A | CA423427244 | USH2A | c.13533C>T (p.Ala4511=)
| |
| 1 | g.215674378G>C | CA423427245 | USH2A | c.13533C>G (p.Ala4511=)
| |
| 1 | g.215674378G>T | CA423427246 | USH2A | c.13533C>A (p.Ala4511=)
| |
| 1 | g.215674379G>A | CA344844806 | USH2A | c.13532C>T (p.Ala4511Val)
| COSMIC COSMIC |
| 1 | g.215674379G>C | CA344844807 | USH2A | c.13532C>G (p.Ala4511Gly)
| |
| 1 | g.215674379G>T | CA344844803 | USH2A | c.13532C>A (p.Ala4511Asp)
| COSMIC |
| 1 | g.215674380C>A | CA344844810 | USH2A | c.13531G>T (p.Ala4511Ser)
| dbSNP gnomAD v2 COSMIC COSMIC |
| 1 | g.215674380C= | CA1220373529 | USH2A | c.13531G= (p.Ala4511=)
| |
| 1 | g.215674380C>G | CA344844814 | USH2A | c.13531G>C (p.Ala4511Pro)
| |
| 1 | g.215674380C>T | CA344844813 | USH2A | c.13531G>A (p.Ala4511Thr)
| ClinVar gnomAD v4 |
| 1 | g.215674381A= | CA1142378361 | USH2A | c.13530T= (p.Thr4510=)
| |
| 1 | g.215674381A>C | CA423427253 | USH2A | c.13530T>G (p.Thr4510=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215674381A>G | CA1393274 | USH2A | c.13530T>C (p.Thr4510=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674381A>T | CA423427254 | USH2A | c.13530T>A (p.Thr4510=)
| |
| 1 | g.215674382G>A | CA344844818 | USH2A | c.13529C>T (p.Thr4510Ile)
| |
| 1 | g.215674382G>C | CA344844819 | USH2A | c.13529C>G (p.Thr4510Ser)
| |
| 1 | g.215674382G>T | CA344844820 | USH2A | c.13529C>A (p.Thr4510Asn)
| ClinVar |
| 1 | g.215674383T>A | CA344844832 | USH2A | c.13528A>T (p.Thr4510Ser)
| |
| 1 | g.215674383T>C | CA344844834 | USH2A | c.13528A>G (p.Thr4510Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215674383T>G | CA344844836 | USH2A | c.13528A>C (p.Thr4510Pro)
| |
| 1 | g.215674384T>A | CA423427260 | USH2A | c.13527A>T (p.Val4509=)
| |
| 1 | g.215674384T>C | CA423427261 | USH2A | c.13527A>G (p.Val4509=)
| |
| 1 | g.215674384T>G | CA423427262 | USH2A | c.13527A>C (p.Val4509=)
| |
| 1 | g.215674385A>C | CA344844845 | USH2A | c.13526T>G (p.Val4509Gly)
| |
| 1 | g.215674385A>G | CA344844847 | USH2A | c.13526T>C (p.Val4509Ala)
| |
| 1 | g.215674385A>T | CA344844850 | USH2A | c.13526T>A (p.Val4509Glu)
| |
| 1 | g.215674386C>A | CA344844853 | USH2A | c.13525G>T (p.Val4509Leu)
| |
| 1 | g.215674386C= | CA1220373530 | USH2A | c.13525G= (p.Val4509=)
| |
| 1 | g.215674386C>G | CA344844855 | USH2A | c.13525G>C (p.Val4509Leu)
| dbSNP |
| 1 | g.215674386C>T | CA344844858 | USH2A | c.13525G>A (p.Val4509Ile)
| |
| 1 | g.215674387del | CA2739275671 | USH2A | c.13524del (p.Val4509Ter)
| ClinVar |
| 1 | g.215674387T>A | CA423427267 | USH2A | c.13524A>T (p.Thr4508=)
| |
| 1 | g.215674387T>C | CA423427268 | USH2A | c.13524A>G (p.Thr4508=)
| dbSNP |
| 1 | g.215674387T>G | CA423427269 | USH2A | c.13524A>C (p.Thr4508=)
| |
| 1 | g.215674387T= | CA1220373531 | USH2A | c.13524A= (p.Thr4508=)
| |
| 1 | g.215674387dup | CA2739275672 | USH2A | c.13524dup (p.Val4509SerfsTer?)
| ClinVar |
| 1 | g.215674388G>A | CA344844861 | USH2A | c.13523C>T (p.Thr4508Ile)
| dbSNP |
| 1 | g.215674388G>C | CA344844870 | USH2A | c.13523C>G (p.Thr4508Arg)
| |
| 1 | g.215674388G= | CA1220373532 | USH2A | c.13523C= (p.Thr4508=)
| |
| 1 | g.215674388G>T | CA344844867 | USH2A | c.13523C>A (p.Thr4508Lys)
| |
| 1 | g.215674388_215674403delinsCT | CA2586968122 | USH2A | c.13508_13523delinsAG (p.Val4503GlufsTer?)
| |
| 1 | g.215674389T>A | CA344844872 | USH2A | c.13522A>T (p.Thr4508Ser)
| |
| 1 | g.215674389T>C | CA344844874 | USH2A | c.13522A>G (p.Thr4508Ala)
| dbSNP |
| 1 | g.215674389T>G | CA344844877 | USH2A | c.13522A>C (p.Thr4508Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215674389T= | CA1220373533 | USH2A | c.13522A= (p.Thr4508=)
| |
| 1 | g.215674390G>A | CA423427278 | USH2A | c.13521C>T (p.Tyr4507=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215674390G>C | CA344844879 | USH2A | c.13521C>G (p.Tyr4507Ter)
| |
| 1 | g.215674390G= | CA1220373534 | USH2A | c.13521C= (p.Tyr4507=)
| |
| 1 | g.215674390G>T | CA344844881 | USH2A | c.13521C>A (p.Tyr4507Ter)
| |
| 1 | g.215674391T>A | CA344844883 | USH2A | c.13520A>T (p.Tyr4507Phe)
| |
| 1 | g.215674391T>C | CA344844886 | USH2A | c.13520A>G (p.Tyr4507Cys)
| |
| 1 | g.215674391T>G | CA344844889 | USH2A | c.13520A>C (p.Tyr4507Ser)
| |
| 1 | g.215674392A= | CA1220373535 | USH2A | c.13519T= (p.Tyr4507=)
| |
| 1 | g.215674392A>C | CA344844893 | USH2A | c.13519T>G (p.Tyr4507Asp)
| |
| 1 | g.215674392A>G | CA1393275 | USH2A | c.13519T>C (p.Tyr4507His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215674392A>T | CA344844896 | USH2A | c.13519T>A (p.Tyr4507Asn)
| |
| 1 | g.215674393G>A | CA423427282 | USH2A | c.13518C>T (p.Ser4506=)
| |
| 1 | g.215674393G>C | CA344844897 | USH2A | c.13518C>G (p.Ser4506Arg)
| |
| 1 | g.215674393G>T | CA344844898 | USH2A | c.13518C>A (p.Ser4506Arg)
| |
| 1 | g.215674394C>A | CA344844899 | USH2A | c.13517G>T (p.Ser4506Ile)
| |
| 1 | g.215674394C>G | CA344844900 | USH2A | c.13517G>C (p.Ser4506Thr)
| |
| 1 | g.215674394C>T | CA344844901 | USH2A | c.13517G>A (p.Ser4506Asn)
| |
| 1 | g.215674395T>A | CA344844902 | USH2A | c.13516A>T (p.Ser4506Cys)
| |
| 1 | g.215674395T>C | CA344844903 | USH2A | c.13516A>G (p.Ser4506Gly)
| dbSNP gnomAD v4 |
| 1 | g.215674395T>G | CA344844904 | USH2A | c.13516A>C (p.Ser4506Arg)
| |
| 1 | g.215674395_215674417dup | CA2580617436 | USH2A | c.13494_13516dup (p.Ser4506IlefsTer12)
| ClinVar |
| 1 | g.215674396A>C | CA344844905 | USH2A | c.13515T>G (p.Tyr4505Ter)
| |
| 1 | g.215674396A>G | CA423427287 | USH2A | c.13515T>C (p.Tyr4505=)
| |
| 1 | g.215674396A>T | CA344844907 | USH2A | c.13515T>A (p.Tyr4505Ter)
| ClinVar |
| 1 | g.215674397T>A | CA344844908 | USH2A | c.13514A>T (p.Tyr4505Phe)
| |
| 1 | g.215674397T>C | CA344844917 | USH2A | c.13514A>G (p.Tyr4505Cys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215674397T>G | CA344844920 | USH2A | c.13514A>C (p.Tyr4505Ser)
| |
| 1 | g.215674397T= | CA1220373536 | USH2A | c.13514A= (p.Tyr4505=)
| |
| 1 | g.215674398A>C | CA344844923 | USH2A | c.13513T>G (p.Tyr4505Asp)
| |
| 1 | g.215674398A>G | CA344844924 | USH2A | c.13513T>C (p.Tyr4505His)
| ClinVar gnomAD v4 |
| 1 | g.215674398A>T | CA344844927 | USH2A | c.13513T>A (p.Tyr4505Asn)
| |
| 1 | g.215674399C>A | CA344844928 | USH2A | c.13512G>T (p.Glu4504Asp)
| gnomAD v4 |
| 1 | g.215674399C= | CA1220373537 | USH2A | c.13512G= (p.Glu4504=)
| |
| 1 | g.215674399C>G | CA344844935 | USH2A | c.13512G>C (p.Glu4504Asp)
| |
| 1 | g.215674399C>T | CA423427292 | USH2A | c.13512G>A (p.Glu4504=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215674400T>A | CA344844945 | USH2A | c.13511A>T (p.Glu4504Val)
| |
| 1 | g.215674400T>C | CA344844947 | USH2A | c.13511A>G (p.Glu4504Gly)
| |
| 1 | g.215674400T>G | CA344844950 | USH2A | c.13511A>C (p.Glu4504Ala)
| ClinVar dbSNP |
| 1 | g.215674400T= | CA1220373538 | USH2A | c.13511A= (p.Glu4504=)
| |
| 1 | g.215674401C>A | CA344844954 | USH2A | c.13510G>T (p.Glu4504Ter)
| |
| 1 | g.215674401C= | CA1220373539 | USH2A | c.13510G= (p.Glu4504=)
| |
| 1 | g.215674401C>G | CA344844957 | USH2A | c.13510G>C (p.Glu4504Gln)
| |
| 1 | g.215674401C>T | CA37412368 | USH2A | c.13510G>A (p.Glu4504Lys)
| dbSNP |
| 1 | g.215674402C>A | CA423427302 | USH2A | c.13509G>T (p.Val4503=)
| |
| 1 | g.215674402C= | CA1220373540 | USH2A | c.13509G= (p.Val4503=)
| |
| 1 | g.215674402C>G | CA423427304 | USH2A | c.13509G>C (p.Val4503=)
| |
| 1 | g.215674402C>T | CA423427305 | USH2A | c.13509G>A (p.Val4503=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215674403A>C | CA344844961 | USH2A | c.13508T>G (p.Val4503Gly)
| |
| 1 | g.215674403A>G | CA344844963 | USH2A | c.13508T>C (p.Val4503Ala)
| |
| 1 | g.215674403A>T | CA344844964 | USH2A | c.13508T>A (p.Val4503Glu)
| |
| 1 | g.215674404C>A | CA344844966 | USH2A | c.13507G>T (p.Val4503Leu)
| |
| 1 | g.215674404C= | CA1144059346 | USH2A | c.13507G= (p.Val4503=)
| |
| 1 | g.215674404C>G | CA344844968 | USH2A | c.13507G>C (p.Val4503Leu)
| |
| 1 | g.215674404C>T | CA37412377 | USH2A | c.13507G>A (p.Val4503Met)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215674405A= | CA1220373541 | USH2A | c.13506T= (p.Gly4502=)
| |
| 1 | g.215674405A>C | CA423427310 | USH2A | c.13506T>G (p.Gly4502=)
| |
| 1 | g.215674405A>G | CA423427311 | USH2A | c.13506T>C (p.Gly4502=)
| ClinVar dbSNP gnomAD v2 |
| 1 | g.215674405A>T | CA423427313 | USH2A | c.13506T>A (p.Gly4502=)
| |
| 1 | g.215674406C>A | CA344844973 | USH2A | c.13505G>T (p.Gly4502Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674406C= | CA1220373542 | USH2A | c.13505G= (p.Gly4502=)
| |
| 1 | g.215674406C>G | CA344844976 | USH2A | c.13505G>C (p.Gly4502Ala)
| |
| 1 | g.215674406C>T | CA344844975 | USH2A | c.13505G>A (p.Gly4502Asp)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215674407C>A | CA344844978 | USH2A | c.13504G>T (p.Gly4502Cys)
| |
| 1 | g.215674407C>G | CA344844987 | USH2A | c.13504G>C (p.Gly4502Arg)
| |
| 1 | g.215674407C>T | CA344844986 | USH2A | c.13504G>A (p.Gly4502Ser)
| |
| 1 | g.215674408T>A | CA423427320 | USH2A | c.13503A>T (p.Pro4501=)
| gnomAD v4 |
| 1 | g.215674408T>C | CA423427322 | USH2A | c.13503A>G (p.Pro4501=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215674408T>G | CA423427324 | USH2A | c.13503A>C (p.Pro4501=)
| dbSNP |
| 1 | g.215674408T= | CA1220373543 | USH2A | c.13503A= (p.Pro4501=)
| |
| 1 | g.215674409G>A | CA344844989 | USH2A | c.13502C>T (p.Pro4501Leu)
| |
| 1 | g.215674409G>C | CA344844993 | USH2A | c.13502C>G (p.Pro4501Arg)
| ClinVar |
| 1 | g.215674409G>T | CA344844991 | USH2A | c.13502C>A (p.Pro4501Gln)
| |
| 1 | g.215674410G>A | CA344844995 | USH2A | c.13501C>T (p.Pro4501Ser)
| |
| 1 | g.215674410G>C | CA1393276 | USH2A | c.13501C>G (p.Pro4501Ala)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215674410G= | CA1220373544 | USH2A | c.13501C= (p.Pro4501=)
| |
| 1 | g.215674410G>T | CA344844997 | USH2A | c.13501C>A (p.Pro4501Thr)
| |
| 1 | g.215674411G>A | CA423427333 | USH2A | c.13500C>T (p.Thr4500=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215674411G>C | CA423427332 | USH2A | c.13500C>G (p.Thr4500=)
| |
| 1 | g.215674411G= | CA1220373545 | USH2A | c.13500C= (p.Thr4500=)
| |
| 1 | g.215674411G>T | CA423427331 | USH2A | c.13500C>A (p.Thr4500=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215674412G>A | CA344844998 | USH2A | c.13499C>T (p.Thr4500Ile)
| |
| 1 | g.215674412G>C | CA344845000 | USH2A | c.13499C>G (p.Thr4500Ser)
| |
| 1 | g.215674412G= | CA1220373546 | USH2A | c.13499C= (p.Thr4500=)
| |
| 1 | g.215674412G>T | CA1393277 | USH2A | c.13499C>A (p.Thr4500Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674412_215674420dup | CA529002034 | USH2A | c.13491_13499dup (p.Thr4500_Pro4501insThrLeuThr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215674413T>A | CA344845003 | USH2A | c.13498A>T (p.Thr4500Ser)
| |
| 1 | g.215674413T>C | CA344845004 | USH2A | c.13498A>G (p.Thr4500Ala)
| |
| 1 | g.215674413T>G | CA344845006 | USH2A | c.13498A>C (p.Thr4500Pro)
| |
| 1 | g.215674414G>A | CA423427338 | USH2A | c.13497C>T (p.Leu4499=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215674414G>C | CA423427340 | USH2A | c.13497C>G (p.Leu4499=)
| |
| 1 | g.215674414G= | CA1220373547 | USH2A | c.13497C= (p.Leu4499=)
| |
| 1 | g.215674414G>T | CA423427343 | USH2A | c.13497C>A (p.Leu4499=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215674415A>C | CA344845008 | USH2A | c.13496T>G (p.Leu4499Arg)
| |
| 1 | g.215674415A>G | CA344845010 | USH2A | c.13496T>C (p.Leu4499Pro)
| |
| 1 | g.215674415A>T | CA344845011 | USH2A | c.13496T>A (p.Leu4499His)
| |
| 1 | g.215674416G>A | CA344845013 | USH2A | c.13495C>T (p.Leu4499Phe)
| dbSNP |
| 1 | g.215674416G>C | CA37412386 | USH2A | c.13495C>G (p.Leu4499Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215674416G= | CA1220373548 | USH2A | c.13495C= (p.Leu4499=)
| |
| 1 | g.215674416G>T | CA344845015 | USH2A | c.13495C>A (p.Leu4499Ile)
| COSMIC COSMIC |
| 1 | g.215674417A= | CA1142325070 | USH2A | c.13494T= (p.Thr4498=)
| |
| 1 | g.215674417A>C | CA423427350 | USH2A | c.13494T>G (p.Thr4498=)
| |
| 1 | g.215674417A>G | CA1393278 | USH2A | c.13494T>C (p.Thr4498=)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215674417A>T | CA423427351 | USH2A | c.13494T>A (p.Thr4498=)
| gnomAD v4 |
| 1 | g.215674418G>A | CA344845020 | USH2A | c.13493C>T (p.Thr4498Ile)
| |
| 1 | g.215674418G>C | CA344845021 | USH2A | c.13493C>G (p.Thr4498Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674418G= | CA1220373549 | USH2A | c.13493C= (p.Thr4498=)
| |
| 1 | g.215674418G>T | CA344845022 | USH2A | c.13493C>A (p.Thr4498Asn)
| |
| 1 | g.215674419T>A | CA344845024 | USH2A | c.13492A>T (p.Thr4498Ser)
| |
| 1 | g.215674419T>C | CA344845026 | USH2A | c.13492A>G (p.Thr4498Ala)
| ClinVar |
| 1 | g.215674419T>G | CA344845028 | USH2A | c.13492A>C (p.Thr4498Pro)
| |
| 1 | g.215674420A>C | CA344845030 | USH2A | c.13491T>G (p.Phe4497Leu)
| |
| 1 | g.215674420A>G | CA423427359 | USH2A | c.13491T>C (p.Phe4497=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215674420A>T | CA344845032 | USH2A | c.13491T>A (p.Phe4497Leu)
| |
| 1 | g.215674421A= | CA1142071466 | USH2A | c.13490T= (p.Phe4497=)
| |
| 1 | g.215674421A>C | CA344845036 | USH2A | c.13490T>G (p.Phe4497Cys)
| |
| 1 | g.215674421A>G | CA344845035 | USH2A | c.13490T>C (p.Phe4497Ser)
| |
| 1 | g.215674421A>T | CA1393279 | USH2A | c.13490T>A (p.Phe4497Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674422A>C | CA344845037 | USH2A | c.13489T>G (p.Phe4497Val)
| |
| 1 | g.215674422A>G | CA344845038 | USH2A | c.13489T>C (p.Phe4497Leu)
| |
| 1 | g.215674422A>T | CA344845039 | USH2A | c.13489T>A (p.Phe4497Ile)
| |
| 1 | g.215674422_215674441delinsAATCACGATAGCGTGTTTCC | CA1220373550 | USH2A | c.13470_13489delinsGGAAACACGCTATCGTGATT (p.Leu4490=)
| |
| 1 | g.215674423A= | CA1220373551 | USH2A | c.13488T= (p.Asp4496=)
| |
| 1 | g.215674423A>C | CA344845040 | USH2A | c.13488T>G (p.Asp4496Glu)
| |
| 1 | g.215674423A>G | CA1393280 | USH2A | c.13488T>C (p.Asp4496=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215674423A>T | CA344845041 | USH2A | c.13488T>A (p.Asp4496Glu)
| |
| 1 | g.215674424_215674442del | CA1012178789 | USH2A | c.13470_13488del (p.Leu4490PhefsTer14)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215674424T>A | CA344845042 | USH2A | c.13487A>T (p.Asp4496Val)
| |
| 1 | g.215674424T>C | CA344845043 | USH2A | c.13487A>G (p.Asp4496Gly)
| gnomAD v4 |
| 1 | g.215674424T>G | CA344845045 | USH2A | c.13487A>C (p.Asp4496Ala)
| |
| 1 | g.215674425C>A | CA344845048 | USH2A | c.13486G>T (p.Asp4496Tyr)
| |
| 1 | g.215674425C>G | CA344845049 | USH2A | c.13486G>C (p.Asp4496His)
| |
| 1 | g.215674425C>T | CA344845050 | USH2A | c.13486G>A (p.Asp4496Asn)
| |
| 1 | g.215674426A= | CA1144727561 | USH2A | c.13485T= (p.Arg4495=)
| |
| 1 | g.215674426A>C | CA423427371 | USH2A | c.13485T>G (p.Arg4495=)
| |
| 1 | g.215674426A>G | CA423427372 | USH2A | c.13485T>C (p.Arg4495=)
| |
| 1 | g.215674426A>T | CA1393281 | USH2A | c.13485T>A (p.Arg4495=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674427C>A | CA37412390 | USH2A | c.13484G>T (p.Arg4495Leu)
| dbSNP gnomAD v4 |
| 1 | g.215674427C= | CA1145976954 | USH2A | c.13484G= (p.Arg4495=)
| |
| 1 | g.215674427C>G | CA344845051 | USH2A | c.13484G>C (p.Arg4495Pro)
| |
| 1 | g.215674427C>T | CA1393282 | USH2A | c.13484G>A (p.Arg4495His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674428G>A | CA1393283 | USH2A | c.13483C>T (p.Arg4495Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674428G>C | CA344845055 | USH2A | c.13483C>G (p.Arg4495Gly)
| ClinVar |
| 1 | g.215674428G= | CA1148294603 | USH2A | c.13483C= (p.Arg4495=)
| |
| 1 | g.215674428G>T | CA344845056 | USH2A | c.13483C>A (p.Arg4495Ser)
| gnomAD v4 |
| 1 | g.215674429A>C | CA344845057 | USH2A | c.13482T>G (p.Tyr4494Ter)
| |
| 1 | g.215674429A>G | CA423427378 | USH2A | c.13482T>C (p.Tyr4494=)
| |
| 1 | g.215674429A>T | CA344845058 | USH2A | c.13482T>A (p.Tyr4494Ter)
| ClinVar |
| 1 | g.215674430T>A | CA344845059 | USH2A | c.13481A>T (p.Tyr4494Phe)
| |
| 1 | g.215674430T>C | CA344845060 | USH2A | c.13481A>G (p.Tyr4494Cys)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215674430T>G | CA344845061 | USH2A | c.13481A>C (p.Tyr4494Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215674430T= | CA1220373552 | USH2A | c.13481A= (p.Tyr4494=)
| |
| 1 | g.215674431_215674438del | CA2580062225 | USH2A | c.13474_13481del (p.Thr4492SerfsTer2)
| ClinVar |
| 1 | g.215674431A= | CA1220373553 | USH2A | c.13480T= (p.Tyr4494=)
| |
| 1 | g.215674431A>C | CA344845062 | USH2A | c.13480T>G (p.Tyr4494Asp)
| |
| 1 | g.215674431A>G | CA344845063 | USH2A | c.13480T>C (p.Tyr4494His)
| dbSNP |
| 1 | g.215674431A>T | CA344845064 | USH2A | c.13480T>A (p.Tyr4494Asn)
| |
| 1 | g.215674432G>A | CA423427381 | USH2A | c.13479C>T (p.Arg4493=)
| |
| 1 | g.215674432G>C | CA423427382 | USH2A | c.13479C>G (p.Arg4493=)
| |
| 1 | g.215674432G>T | CA423427383 | USH2A | c.13479C>A (p.Arg4493=)
| |
| 1 | g.215674433C>A | CA344845066 | USH2A | c.13478G>T (p.Arg4493Leu)
| |
| 1 | g.215674433C= | CA1141645880 | USH2A | c.13478G= (p.Arg4493=)
| |
| 1 | g.215674433C>G | CA344845067 | USH2A | c.13478G>C (p.Arg4493Pro)
| |
| 1 | g.215674433C>T | CA246929 | USH2A | c.13478G>A (p.Arg4493His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674434G>A | CA1393284 | USH2A | c.13477C>T (p.Arg4493Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215674434G>C | CA344845069 | USH2A | c.13477C>G (p.Arg4493Gly)
| |
| 1 | g.215674434G= | CA1141998301 | USH2A | c.13477C= (p.Arg4493=)
| |
| 1 | g.215674434G>T | CA344845071 | USH2A | c.13477C>A (p.Arg4493Ser)
| |
| 1 | g.215674436_215674437del | CA2650500258 | USH2A | c.13476_13477del (p.Arg4493LeufsTer3)
| gnomAD v4 |
| 1 | g.215674435T>A | CA423427388 | USH2A | c.13476A>T (p.Thr4492=)
| |
| 1 | g.215674435T>C | CA423427390 | USH2A | c.13476A>G (p.Thr4492=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215674435T>G | CA423427391 | USH2A | c.13476A>C (p.Thr4492=)
| |
| 1 | g.215674435T= | CA1220373554 | USH2A | c.13476A= (p.Thr4492=)
| |
| 1 | g.215674436G>A | CA344845072 | USH2A | c.13475C>T (p.Thr4492Ile)
| |
| 1 | g.215674436G>C | CA344845073 | USH2A | c.13475C>G (p.Thr4492Arg)
| |
| 1 | g.215674436G>T | CA344845074 | USH2A | c.13475C>A (p.Thr4492Lys)
| |
| 1 | g.215674437T>A | CA344845075 | USH2A | c.13474A>T (p.Thr4492Ser)
| |
| 1 | g.215674437T>C | CA344845076 | USH2A | c.13474A>G (p.Thr4492Ala)
| |
| 1 | g.215674437T>G | CA344845077 | USH2A | c.13474A>C (p.Thr4492Pro)
| gnomAD v4 |
| 1 | g.215674438T>A | CA344845079 | USH2A | c.13473A>T (p.Glu4491Asp)
| |
| 1 | g.215674438T>C | CA423427399 | USH2A | c.13473A>G (p.Glu4491=)
| ClinVar gnomAD v4 |
| 1 | g.215674438T>G | CA344845081 | USH2A | c.13473A>C (p.Glu4491Asp)
| |
| 1 | g.215674439T>A | CA344845085 | USH2A | c.13472A>T (p.Glu4491Val)
| |
| 1 | g.215674439T>C | CA344845086 | USH2A | c.13472A>G (p.Glu4491Gly)
| gnomAD v4 |
| 1 | g.215674439T>G | CA344845088 | USH2A | c.13472A>C (p.Glu4491Ala)
| |
| 1 | g.215674440C>A | CA344845094 | USH2A | c.13471G>T (p.Glu4491Ter)
| |
| 1 | g.215674440C>G | CA344845091 | USH2A | c.13471G>C (p.Glu4491Gln)
| |
| 1 | g.215674440C>T | CA344845092 | USH2A | c.13471G>A (p.Glu4491Lys)
| gnomAD v4 |
| 1 | g.215674441C>A | CA344845096 | USH2A | c.13470G>T (p.Leu4490Phe)
| dbSNP gnomAD v2 |
| 1 | g.215674441C= | CA1220373555 | USH2A | c.13470G= (p.Leu4490=)
| |
| 1 | g.215674441C>G | CA344845098 | USH2A | c.13470G>C (p.Leu4490Phe)
| |
| 1 | g.215674441C>T | CA423427402 | USH2A | c.13470G>A (p.Leu4490=)
| gnomAD v4 |
| 1 | g.215674442A= | CA1220373556 | USH2A | c.13469T= (p.Leu4490=)
| |
| 1 | g.215674442A>C | CA344845100 | USH2A | c.13469T>G (p.Leu4490Trp)
| |
| 1 | g.215674442A>G | CA344845102 | USH2A | c.13469T>C (p.Leu4490Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215674442A>T | CA344845103 | USH2A | c.13469T>A (p.Leu4490Ter)
| |
| 1 | g.215674443A>C | CA344845105 | USH2A | c.13468T>G (p.Leu4490Val)
| |
| 1 | g.215674443A>G | CA423427407 | USH2A | c.13468T>C (p.Leu4490=)
| |
| 1 | g.215674443A>T | CA344845107 | USH2A | c.13468T>A (p.Leu4490Met)
| |
| 1 | g.215674444G>A | CA423427408 | USH2A | c.13467C>T (p.Gly4489=)
| |
| 1 | g.215674444G>C | CA423427410 | USH2A | c.13467C>G (p.Gly4489=)
| |
| 1 | g.215674444G>T | CA423427409 | USH2A | c.13467C>A (p.Gly4489=)
| ClinVar dbSNP |
| 1 | g.215674445C>A | CA344845109 | USH2A | c.13466G>T (p.Gly4489Val)
| |
| 1 | g.215674445C= | CA1144233401 | USH2A | c.13466G= (p.Gly4489=)
| |
| 1 | g.215674445C>G | CA344845110 | USH2A | c.13466G>C (p.Gly4489Ala)
| |
| 1 | g.215674445C>T | CA270141 | USH2A | c.13466G>A (p.Gly4489Asp)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215674446dup | CA2586968123 | USH2A | c.13466dup (p.Glu4491GlyfsTer6)
| |
