| 1 | g.215671205_215671221del | CA2499214435 | USH2A | c.13886_13902del (p.Glu4629AlafsTer?)
| ClinVar dbSNP |
| 1 | g.215671218C>A | CA344841544 | USH2A | c.13887G>T (p.Glu4629Asp)
| ClinVar dbSNP COSMIC COSMIC |
| 1 | g.215671218C= | CA1220372193 | USH2A | c.13887G= (p.Glu4629=)
| |
| 1 | g.215671218C>G | CA344841547 | USH2A | c.13887G>C (p.Glu4629Asp)
| |
| 1 | g.215671218C>T | CA423426514 | USH2A | c.13887G>A (p.Glu4629=)
| |
| 1 | g.215671219T>A | CA344841552 | USH2A | c.13886A>T (p.Glu4629Val)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215671219T>C | CA344841554 | USH2A | c.13886A>G (p.Glu4629Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671219T>G | CA344841563 | USH2A | c.13886A>C (p.Glu4629Ala)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215671219T= | CA1220372194 | USH2A | c.13886A= (p.Glu4629=)
| |
| 1 | g.215671220C>A | CA344841566 | USH2A | c.13885G>T (p.Glu4629Ter)
| |
| 1 | g.215671220C= | CA1220372195 | USH2A | c.13885G= (p.Glu4629=)
| |
| 1 | g.215671220C>G | CA344841568 | USH2A | c.13885G>C (p.Glu4629Gln)
| |
| 1 | g.215671220C>T | CA37410195 | USH2A | c.13885G>A (p.Glu4629Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671221A>C | CA423426519 | USH2A | c.13884T>G (p.Pro4628=)
| |
| 1 | g.215671221A>G | CA423426520 | USH2A | c.13884T>C (p.Pro4628=)
| |
| 1 | g.215671221A>T | CA423426521 | USH2A | c.13884T>A (p.Pro4628=)
| COSMIC COSMIC |
| 1 | g.215671222G>A | CA344841570 | USH2A | c.13883C>T (p.Pro4628Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671222G>C | CA344841572 | USH2A | c.13883C>G (p.Pro4628Arg)
| |
| 1 | g.215671222G= | CA1220372196 | USH2A | c.13883C= (p.Pro4628=)
| |
| 1 | g.215671222G>T | CA344841574 | USH2A | c.13883C>A (p.Pro4628His)
| |
| 1 | g.215671223G>A | CA344841581 | USH2A | c.13882C>T (p.Pro4628Ser)
| |
| 1 | g.215671223G>C | CA344841589 | USH2A | c.13882C>G (p.Pro4628Ala)
| ClinVar dbSNP |
| 1 | g.215671223G= | CA1220372197 | USH2A | c.13882C= (p.Pro4628=)
| |
| 1 | g.215671223G>T | CA344841577 | USH2A | c.13882C>A (p.Pro4628Thr)
| |
| 1 | g.215671224G>A | CA423426528 | USH2A | c.13881C>T (p.Thr4627=)
| |
| 1 | g.215671224G>C | CA423426529 | USH2A | c.13881C>G (p.Thr4627=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671224G= | CA1220372198 | USH2A | c.13881C= (p.Thr4627=)
| |
| 1 | g.215671224G>T | CA423426530 | USH2A | c.13881C>A (p.Thr4627=)
| |
| 1 | g.215671225G>A | CA344841592 | USH2A | c.13880C>T (p.Thr4627Ile)
| ClinVar gnomAD v4 |
| 1 | g.215671225G>C | CA344841595 | USH2A | c.13880C>G (p.Thr4627Ser)
| |
| 1 | g.215671225G= | CA1220372199 | USH2A | c.13880C= (p.Thr4627=)
| |
| 1 | g.215671225G>T | CA344841598 | USH2A | c.13880C>A (p.Thr4627Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671227_215671230del | CA2580062065 | USH2A | c.13877_13880del (p.Gln4626ProfsTer7)
| ClinVar |
| 1 | g.215671226T>A | CA344841600 | USH2A | c.13879A>T (p.Thr4627Ser)
| |
| 1 | g.215671226T>C | CA344841610 | USH2A | c.13879A>G (p.Thr4627Ala)
| |
| 1 | g.215671226T>G | CA344841613 | USH2A | c.13879A>C (p.Thr4627Pro)
| |
| 1 | g.215671227C>A | CA344841616 | USH2A | c.13878G>T (p.Gln4626His)
| |
| 1 | g.215671227C= | CA1220372200 | USH2A | c.13878G= (p.Gln4626=)
| |
| 1 | g.215671227C>G | CA344841622 | USH2A | c.13878G>C (p.Gln4626His)
| dbSNP |
| 1 | g.215671227C>T | CA423426536 | USH2A | c.13878G>A (p.Gln4626=)
| |
| 1 | g.215671228T>A | CA344841625 | USH2A | c.13877A>T (p.Gln4626Leu)
| |
| 1 | g.215671228T>C | CA344841629 | USH2A | c.13877A>G (p.Gln4626Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671228T>G | CA344841632 | USH2A | c.13877A>C (p.Gln4626Pro)
| |
| 1 | g.215671228T= | CA1220372201 | USH2A | c.13877A= (p.Gln4626=)
| |
| 1 | g.215671229G>A | CA344841636 | USH2A | c.13876C>T (p.Gln4626Ter)
| ClinVar dbSNP |
| 1 | g.215671229G>C | CA344841639 | USH2A | c.13876C>G (p.Gln4626Glu)
| ClinVar dbSNP |
| 1 | g.215671229G= | CA1220372202 | USH2A | c.13876C= (p.Gln4626=)
| |
| 1 | g.215671229G>T | CA344841641 | USH2A | c.13876C>A (p.Gln4626Lys)
| |
| 1 | g.215671230T>A | CA423426538 | USH2A | c.13875A>T (p.Ile4625=)
| |
| 1 | g.215671230T>C | CA344841645 | USH2A | c.13875A>G (p.Ile4625Met)
| |
| 1 | g.215671230T>G | CA423426539 | USH2A | c.13875A>C (p.Ile4625=)
| |
| 1 | g.215671231A>C | CA344841648 | USH2A | c.13874T>G (p.Ile4625Arg)
| |
| 1 | g.215671231A>G | CA344841666 | USH2A | c.13874T>C (p.Ile4625Thr)
| |
| 1 | g.215671231A>T | CA344841670 | USH2A | c.13874T>A (p.Ile4625Lys)
| |
| 1 | g.215671232T>A | CA344841672 | USH2A | c.13873A>T (p.Ile4625Leu)
| |
| 1 | g.215671232T>C | CA344841673 | USH2A | c.13873A>G (p.Ile4625Val)
| |
| 1 | g.215671232T>G | CA344841686 | USH2A | c.13873A>C (p.Ile4625Leu)
| |
| 1 | g.215671233G>A | CA423426542 | USH2A | c.13872C>T (p.Phe4624=)
| ClinVar dbSNP |
| 1 | g.215671233G>C | CA344841688 | USH2A | c.13872C>G (p.Phe4624Leu)
| |
| 1 | g.215671233G>T | CA344841690 | USH2A | c.13872C>A (p.Phe4624Leu)
| |
| 1 | g.215671234A>C | CA344841699 | USH2A | c.13871T>G (p.Phe4624Cys)
| |
| 1 | g.215671234A>G | CA344841701 | USH2A | c.13871T>C (p.Phe4624Ser)
| |
| 1 | g.215671234A>T | CA344841706 | USH2A | c.13871T>A (p.Phe4624Tyr)
| |
| 1 | g.215671235A= | CA1220372203 | USH2A | c.13870T= (p.Phe4624=)
| |
| 1 | g.215671235A>C | CA344841709 | USH2A | c.13870T>G (p.Phe4624Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671235A>G | CA344841710 | USH2A | c.13870T>C (p.Phe4624Leu)
| |
| 1 | g.215671235A>T | CA344841712 | USH2A | c.13870T>A (p.Phe4624Ile)
| |
| 1 | g.215671236T>A | CA423426544 | USH2A | c.13869A>T (p.Thr4623=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215671236T>C | CA423426545 | USH2A | c.13869A>G (p.Thr4623=)
| ClinVar gnomAD v4 |
| 1 | g.215671236T>G | CA423426546 | USH2A | c.13869A>C (p.Thr4623=)
| |
| 1 | g.215671237G>A | CA344841728 | USH2A | c.13868C>T (p.Thr4623Ile)
| |
| 1 | g.215671237G>C | CA344841726 | USH2A | c.13868C>G (p.Thr4623Arg)
| gnomAD v4 |
| 1 | g.215671237G>T | CA344841720 | USH2A | c.13868C>A (p.Thr4623Lys)
| gnomAD v4 |
| 1 | g.215671238del | CA2573662647 | USH2A | c.13867del (p.Thr4623HisfsTer11)
| |
| 1 | g.215671238T>A | CA344841731 | USH2A | c.13867A>T (p.Thr4623Ser)
| |
| 1 | g.215671238T>C | CA344841735 | USH2A | c.13867A>G (p.Thr4623Ala)
| |
| 1 | g.215671238T>G | CA344841734 | USH2A | c.13867A>C (p.Thr4623Pro)
| |
| 1 | g.215671239C>A | CA344841740 | USH2A | c.13866G>T (p.Trp4622Cys)
| |
| 1 | g.215671239C= | CA1220372204 | USH2A | c.13866G= (p.Trp4622=)
| |
| 1 | g.215671239C>G | CA344841747 | USH2A | c.13866G>C (p.Trp4622Cys)
| dbSNP |
| 1 | g.215671239C>T | CA344841748 | USH2A | c.13866G>A (p.Trp4622Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671240C>A | CA344841751 | USH2A | c.13865G>T (p.Trp4622Leu)
| |
| 1 | g.215671240C= | CA1220372205 | USH2A | c.13865G= (p.Trp4622=)
| |
| 1 | g.215671240C>G | CA344841753 | USH2A | c.13865G>C (p.Trp4622Ser)
| |
| 1 | g.215671240C>T | CA344841757 | USH2A | c.13865G>A (p.Trp4622Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671241A>C | CA344841763 | USH2A | c.13864T>G (p.Trp4622Gly)
| |
| 1 | g.215671241A>G | CA344841765 | USH2A | c.13864T>C (p.Trp4622Arg)
| |
| 1 | g.215671241A>T | CA344841766 | USH2A | c.13864T>A (p.Trp4622Arg)
| |
| 1 | g.215671242G>A | CA423426551 | USH2A | c.13863C>T (p.Asp4621=)
| |
| 1 | g.215671242G>C | CA344841768 | USH2A | c.13863C>G (p.Asp4621Glu)
| |
| 1 | g.215671242G>T | CA344841770 | USH2A | c.13863C>A (p.Asp4621Glu)
| |
| 1 | g.215671243T>A | CA344841779 | USH2A | c.13862A>T (p.Asp4621Val)
| |
| 1 | g.215671243T>C | CA344841774 | USH2A | c.13862A>G (p.Asp4621Gly)
| |
| 1 | g.215671243T>G | CA344841773 | USH2A | c.13862A>C (p.Asp4621Ala)
| |
| 1 | g.215671244C>A | CA344841783 | USH2A | c.13861G>T (p.Asp4621Tyr)
| |
| 1 | g.215671244C= | CA1220372206 | USH2A | c.13861G= (p.Asp4621=)
| |
| 1 | g.215671244C>G | CA344841787 | USH2A | c.13861G>C (p.Asp4621His)
| |
| 1 | g.215671244C>T | CA1393184 | USH2A | c.13861G>A (p.Asp4621Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671245A>C | CA344841790 | USH2A | c.13860T>G (p.Ser4620Arg)
| |
| 1 | g.215671245A>G | CA423426555 | USH2A | c.13860T>C (p.Ser4620=)
| |
| 1 | g.215671245A>T | CA344841791 | USH2A | c.13860T>A (p.Ser4620Arg)
| |
| 1 | g.215671246C>A | CA344841792 | USH2A | c.13859G>T (p.Ser4620Ile)
| |
| 1 | g.215671246C= | CA1220372207 | USH2A | c.13859G= (p.Ser4620=)
| |
| 1 | g.215671246C>G | CA344841793 | USH2A | c.13859G>C (p.Ser4620Thr)
| |
| 1 | g.215671246C>T | CA344841794 | USH2A | c.13859G>A (p.Ser4620Asn)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671247T>A | CA344841795 | USH2A | c.13858A>T (p.Ser4620Cys)
| |
| 1 | g.215671247T>C | CA344841797 | USH2A | c.13858A>G (p.Ser4620Gly)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215671247T>G | CA344841798 | USH2A | c.13858A>C (p.Ser4620Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671247T= | CA1220372208 | USH2A | c.13858A= (p.Ser4620=)
| |
| 1 | g.215671248dup | CA645519368 | USH2A | c.13858dup (p.Ser4620LysfsTer2)
| COSMIC COSMIC |
| 1 | g.215671248T>A | CA423426560 | USH2A | c.13857A>T (p.Ser4619=)
| |
| 1 | g.215671248T>C | CA1393185 | USH2A | c.13857A>G (p.Ser4619=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671248T>G | CA423426558 | USH2A | c.13857A>C (p.Ser4619=)
| |
| 1 | g.215671248T= | CA1143945369 | USH2A | c.13857A= (p.Ser4619=)
| |
| 1 | g.215671249G>A | CA344841824 | USH2A | c.13856C>T (p.Ser4619Leu)
| gnomAD v4 |
| 1 | g.215671249G>C | CA344841820 | USH2A | c.13856C>G (p.Ser4619Ter)
| ClinVar |
| 1 | g.215671249G>T | CA344841817 | USH2A | c.13856C>A (p.Ser4619Ter)
| |
| 1 | g.215671250A>C | CA344841831 | USH2A | c.13855T>G (p.Ser4619Ala)
| |
| 1 | g.215671250A>G | CA344841827 | USH2A | c.13855T>C (p.Ser4619Pro)
| |
| 1 | g.215671250A>T | CA344841829 | USH2A | c.13855T>A (p.Ser4619Thr)
| |
| 1 | g.215671251T>A | CA423426569 | USH2A | c.13854A>T (p.Ala4618=)
| |
| 1 | g.215671251T>C | CA1393186 | USH2A | c.13854A>G (p.Ala4618=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671251T>G | CA423426561 | USH2A | c.13854A>C (p.Ala4618=)
| |
| 1 | g.215671251T= | CA1148724243 | USH2A | c.13854A= (p.Ala4618=)
| |
| 1 | g.215671252G>A | CA344841833 | USH2A | c.13853C>T (p.Ala4618Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671252G>C | CA344841836 | USH2A | c.13853C>G (p.Ala4618Gly)
| |
| 1 | g.215671252G= | CA1220372209 | USH2A | c.13853C= (p.Ala4618=)
| |
| 1 | g.215671252G>T | CA344841840 | USH2A | c.13853C>A (p.Ala4618Glu)
| |
| 1 | g.215671253C>A | CA344841850 | USH2A | c.13852G>T (p.Ala4618Ser)
| |
| 1 | g.215671253C>G | CA344841845 | USH2A | c.13852G>C (p.Ala4618Pro)
| |
| 1 | g.215671253C>T | CA344841848 | USH2A | c.13852G>A (p.Ala4618Thr)
| |
| 1 | g.215671254A= | CA1220372210 | USH2A | c.13851T= (p.Cys4617=)
| |
| 1 | g.215671254A>C | CA344841852 | USH2A | c.13851T>G (p.Cys4617Trp)
| |
| 1 | g.215671254A>G | CA423426572 | USH2A | c.13851T>C (p.Cys4617=)
| dbSNP gnomAD v4 |
| 1 | g.215671254A>T | CA344841853 | USH2A | c.13851T>A (p.Cys4617Ter)
| |
| 1 | g.215671255C>A | CA344841855 | USH2A | c.13850G>T (p.Cys4617Phe)
| dbSNP gnomAD v4 |
| 1 | g.215671255C= | CA1220372211 | USH2A | c.13850G= (p.Cys4617=)
| |
| 1 | g.215671255C>G | CA344841857 | USH2A | c.13850G>C (p.Cys4617Ser)
| |
| 1 | g.215671255C>T | CA344841859 | USH2A | c.13850G>A (p.Cys4617Tyr)
| dbSNP |
| 1 | g.215671256A= | CA1220372212 | USH2A | c.13849T= (p.Cys4617=)
| |
| 1 | g.215671256A>C | CA344841860 | USH2A | c.13849T>G (p.Cys4617Gly)
| dbSNP |
| 1 | g.215671256A>G | CA344841864 | USH2A | c.13849T>C (p.Cys4617Arg)
| |
| 1 | g.215671256A>T | CA344841862 | USH2A | c.13849T>A (p.Cys4617Ser)
| |
| 1 | g.215671257T>A | CA423426573 | USH2A | c.13848A>T (p.Gly4616=)
| |
| 1 | g.215671257T>C | CA423426575 | USH2A | c.13848A>G (p.Gly4616=)
| gnomAD v4 |
| 1 | g.215671257T>G | CA423426577 | USH2A | c.13848A>C (p.Gly4616=)
| |
| 1 | g.215671257T= | CA1220372213 | USH2A | c.13848A= (p.Gly4616=)
| |
| 1 | g.215671258C>A | CA270143 | USH2A | c.13847G>T (p.Gly4616Val)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215671258C= | CA1144233400 | USH2A | c.13847G= (p.Gly4616=)
| |
| 1 | g.215671258C>G | CA344841869 | USH2A | c.13847G>C (p.Gly4616Ala)
| |
| 1 | g.215671258C>T | CA344841872 | USH2A | c.13847G>A (p.Gly4616Glu)
| |
| 1 | g.215671258_215671260delinsCCC | CA1140592563 | USH2A | c.13845_13847delinsGGG (p.Leu4615=)
| |
| 1 | g.215671260dup | CA37410249 | USH2A | c.13847dup (p.Cys4617MetfsTer5)
| dbSNP |
| 1 | g.215671259C>A | CA344841876 | USH2A | c.13846G>T (p.Gly4616Ter)
| |
| 1 | g.215671259C>G | CA344841880 | USH2A | c.13846G>C (p.Gly4616Arg)
| |
| 1 | g.215671259C>T | CA344841882 | USH2A | c.13846G>A (p.Gly4616Arg)
| gnomAD v4 |
| 1 | g.215671260C>A | CA423426580 | USH2A | c.13845G>T (p.Leu4615=)
| |
| 1 | g.215671260C>G | CA423426581 | USH2A | c.13845G>C (p.Leu4615=)
| |
| 1 | g.215671260C>T | CA423426583 | USH2A | c.13845G>A (p.Leu4615=)
| gnomAD v4 |
| 1 | g.215671261A>C | CA344841883 | USH2A | c.13844T>G (p.Leu4615Arg)
| |
| 1 | g.215671261A>G | CA344841885 | USH2A | c.13844T>C (p.Leu4615Pro)
| |
| 1 | g.215671261A>T | CA344841887 | USH2A | c.13844T>A (p.Leu4615Gln)
| |
| 1 | g.215671262G>A | CA423426587 | USH2A | c.13843C>T (p.Leu4615=)
| |
| 1 | g.215671262G>C | CA344841889 | USH2A | c.13843C>G (p.Leu4615Val)
| |
| 1 | g.215671262G>T | CA344841892 | USH2A | c.13843C>A (p.Leu4615Met)
| |
| 1 | g.215671264del | CA423426586 | USH2A | c.13843del (p.Leu4615TrpfsTer19)
| gnomAD v4 |
| 1 | g.215671263G>A | CA423426589 | USH2A | c.13842C>T (p.Thr4614=)
| ClinVar |
| 1 | g.215671263G>C | CA423426590 | USH2A | c.13842C>G (p.Thr4614=)
| COSMIC |
| 1 | g.215671263G= | CA1220372214 | USH2A | c.13842C= (p.Thr4614=)
| |
| 1 | g.215671263G>T | CA1393187 | USH2A | c.13842C>A (p.Thr4614=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671264G>A | CA344841901 | USH2A | c.13841C>T (p.Thr4614Ile)
| |
| 1 | g.215671264G>C | CA344841903 | USH2A | c.13841C>G (p.Thr4614Ser)
| |
| 1 | g.215671264G>T | CA344841899 | USH2A | c.13841C>A (p.Thr4614Asn)
| gnomAD v4 |
| 1 | g.215671265T>A | CA344841905 | USH2A | c.13840A>T (p.Thr4614Ser)
| |
| 1 | g.215671265T>C | CA344841908 | USH2A | c.13840A>G (p.Thr4614Ala)
| gnomAD v4 |
| 1 | g.215671265T>G | CA344841909 | USH2A | c.13840A>C (p.Thr4614Pro)
| |
| 1 | g.215671266G>A | CA423426593 | USH2A | c.13839C>T (p.Thr4613=)
| |
| 1 | g.215671266G>C | CA423426594 | USH2A | c.13839C>G (p.Thr4613=)
| |
| 1 | g.215671266G>T | CA423426595 | USH2A | c.13839C>A (p.Thr4613=)
| |
| 1 | g.215671267G>A | CA344841913 | USH2A | c.13838C>T (p.Thr4613Ile)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215671267G>C | CA344841920 | USH2A | c.13838C>G (p.Thr4613Ser)
| |
| 1 | g.215671267G= | CA1220372215 | USH2A | c.13838C= (p.Thr4613=)
| |
| 1 | g.215671267G>T | CA344841923 | USH2A | c.13838C>A (p.Thr4613Asn)
| |
| 1 | g.215671268T>A | CA344841932 | USH2A | c.13837A>T (p.Thr4613Ser)
| |
| 1 | g.215671268T>C | CA344841927 | USH2A | c.13837A>G (p.Thr4613Ala)
| |
| 1 | g.215671268T>G | CA344841930 | USH2A | c.13837A>C (p.Thr4613Pro)
| |
| 1 | g.215671269G>A | CA423426601 | USH2A | c.13836C>T (p.Cys4612=)
| ClinVar dbSNP |
| 1 | g.215671269G>C | CA1393188 | USH2A | c.13836C>G (p.Cys4612Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671269G= | CA1220372216 | USH2A | c.13836C= (p.Cys4612=)
| |
| 1 | g.215671269G>T | CA344841936 | USH2A | c.13836C>A (p.Cys4612Ter)
| |
| 1 | g.215671270C>A | CA344841938 | USH2A | c.13835G>T (p.Cys4612Phe)
| |
| 1 | g.215671270C>G | CA344841941 | USH2A | c.13835G>C (p.Cys4612Ser)
| |
| 1 | g.215671270C>T | CA344841943 | USH2A | c.13835G>A (p.Cys4612Tyr)
| |
| 1 | g.215671271A>C | CA344841951 | USH2A | c.13834T>G (p.Cys4612Gly)
| |
| 1 | g.215671271A>G | CA344841947 | USH2A | c.13834T>C (p.Cys4612Arg)
| |
| 1 | g.215671271A>T | CA344841949 | USH2A | c.13834T>A (p.Cys4612Ser)
| |
| 1 | g.215671271dup | CA2740090310 | USH2A | c.13834dup (p.Cys4612LeufsTer10)
| ClinVar |
| 1 | g.215671272C>A | CA423426606 | USH2A | c.13833G>T (p.Ala4611=)
| gnomAD v4 |
| 1 | g.215671272C= | CA1220372217 | USH2A | c.13833G= (p.Ala4611=)
| |
| 1 | g.215671272C>G | CA423426608 | USH2A | c.13833G>C (p.Ala4611=)
| |
| 1 | g.215671272C>T | CA1393189 | USH2A | c.13833G>A (p.Ala4611=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671273G>A | CA1393190 | USH2A | c.13832C>T (p.Ala4611Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671273G>C | CA16617053 | USH2A | c.13832C>G (p.Ala4611Gly)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215671273G= | CA1144102526 | USH2A | c.13832C= (p.Ala4611=)
| |
| 1 | g.215671273G>T | CA344841966 | USH2A | c.13832C>A (p.Ala4611Glu)
| dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215671274C>A | CA344841969 | USH2A | c.13831G>T (p.Ala4611Ser)
| |
| 1 | g.215671274C>G | CA344841970 | USH2A | c.13831G>C (p.Ala4611Pro)
| |
| 1 | g.215671274C>T | CA344841975 | USH2A | c.13831G>A (p.Ala4611Thr)
| |
| 1 | g.215671275T>A | CA344841978 | USH2A | c.13830A>T (p.Gln4610His)
| |
| 1 | g.215671275T>C | CA423426611 | USH2A | c.13830A>G (p.Gln4610=)
| |
| 1 | g.215671275T>G | CA344841980 | USH2A | c.13830A>C (p.Gln4610His)
| |
| 1 | g.215671276T>A | CA344841981 | USH2A | c.13829A>T (p.Gln4610Leu)
| |
| 1 | g.215671276T>C | CA344841984 | USH2A | c.13829A>G (p.Gln4610Arg)
| |
| 1 | g.215671276T>G | CA344841985 | USH2A | c.13829A>C (p.Gln4610Pro)
| |
| 1 | g.215671277G>A | CA344841987 | USH2A | c.13828C>T (p.Gln4610Ter)
| |
| 1 | g.215671277G>C | CA344842001 | USH2A | c.13828C>G (p.Gln4610Glu)
| |
| 1 | g.215671277G>T | CA344841990 | USH2A | c.13828C>A (p.Gln4610Lys)
| |
| 1 | g.215671278A>C | CA344842003 | USH2A | c.13827T>G (p.Ile4609Met)
| |
| 1 | g.215671278A>G | CA423426612 | USH2A | c.13827T>C (p.Ile4609=)
| |
| 1 | g.215671278A>T | CA423426613 | USH2A | c.13827T>A (p.Ile4609=)
| |
| 1 | g.215671279A>C | CA344842006 | USH2A | c.13826T>G (p.Ile4609Ser)
| |
| 1 | g.215671279A>G | CA344842008 | USH2A | c.13826T>C (p.Ile4609Thr)
| |
| 1 | g.215671279A>T | CA344842010 | USH2A | c.13826T>A (p.Ile4609Asn)
| |
| 1 | g.215671280T>A | CA344842012 | USH2A | c.13825A>T (p.Ile4609Phe)
| |
| 1 | g.215671280T>C | CA344842013 | USH2A | c.13825A>G (p.Ile4609Val)
| gnomAD v4 |
| 1 | g.215671280T>G | CA344842014 | USH2A | c.13825A>C (p.Ile4609Leu)
| |
| 1 | g.215671281T>A | CA423426619 | USH2A | c.13824A>T (p.Arg4608=)
| |
| 1 | g.215671281T>C | CA423426621 | USH2A | c.13824A>G (p.Arg4608=)
| |
| 1 | g.215671281T>G | CA423426620 | USH2A | c.13824A>C (p.Arg4608=)
| |
| 1 | g.215671282C>A | CA344842015 | USH2A | c.13823G>T (p.Arg4608Leu)
| COSMIC COSMIC |
| 1 | g.215671282C= | CA1220372218 | USH2A | c.13823G= (p.Arg4608=)
| |
| 1 | g.215671282C>G | CA344842016 | USH2A | c.13823G>C (p.Arg4608Pro)
| ClinVar |
| 1 | g.215671282C>T | CA1393191 | USH2A | c.13823G>A (p.Arg4608Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215671283G>A | CA1393192 | USH2A | c.13822C>T (p.Arg4608Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671283G>C | CA37410282 | USH2A | c.13822C>G (p.Arg4608Gly)
| dbSNP gnomAD v4 |
| 1 | g.215671283G= | CA1143547210 | USH2A | c.13822C= (p.Arg4608=)
| |
| 1 | g.215671283G>T | CA423426623 | USH2A | c.13822C>A (p.Arg4608=)
| |
| 1 | g.215671284T>A | CA423426625 | USH2A | c.13821A>T (p.Ile4607=)
| |
| 1 | g.215671284T>C | CA344842017 | USH2A | c.13821A>G (p.Ile4607Met)
| |
| 1 | g.215671284T>G | CA423426627 | USH2A | c.13821A>C (p.Ile4607=)
| |
| 1 | g.215671285A= | CA1220372219 | USH2A | c.13820T= (p.Ile4607=)
| |
| 1 | g.215671285A>C | CA344842018 | USH2A | c.13820T>G (p.Ile4607Arg)
| |
| 1 | g.215671285A>G | CA344842019 | USH2A | c.13820T>C (p.Ile4607Thr)
| |
| 1 | g.215671285A>T | CA1393193 | USH2A | c.13820T>A (p.Ile4607Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671286T>A | CA344842022 | USH2A | c.13819A>T (p.Ile4607Leu)
| |
| 1 | g.215671286T>C | CA344842024 | USH2A | c.13819A>G (p.Ile4607Val)
| |
| 1 | g.215671286T>G | CA344842026 | USH2A | c.13819A>C (p.Ile4607Leu)
| |
| 1 | g.215671287T>A | CA344842031 | USH2A | c.13818A>T (p.Glu4606Asp)
| |
| 1 | g.215671287T>C | CA423426632 | USH2A | c.13818A>G (p.Glu4606=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671287T>G | CA344842033 | USH2A | c.13818A>C (p.Glu4606Asp)
| |
| 1 | g.215671287T= | CA1220372220 | USH2A | c.13818A= (p.Glu4606=)
| |
| 1 | g.215671288T>A | CA344842035 | USH2A | c.13817A>T (p.Glu4606Val)
| |
| 1 | g.215671288T>C | CA344842037 | USH2A | c.13817A>G (p.Glu4606Gly)
| |
| 1 | g.215671288T>G | CA344842040 | USH2A | c.13817A>C (p.Glu4606Ala)
| |
| 1 | g.215671289C>A | CA344842053 | USH2A | c.13816G>T (p.Glu4606Ter)
| dbSNP |
| 1 | g.215671289C= | CA1220372221 | USH2A | c.13816G= (p.Glu4606=)
| |
| 1 | g.215671289C>G | CA344842055 | USH2A | c.13816G>C (p.Glu4606Gln)
| |
| 1 | g.215671289C>T | CA344842056 | USH2A | c.13816G>A (p.Glu4606Lys)
| COSMIC COSMIC |
| 1 | g.215671290del | CA2650500260 | USH2A | c.13815del (p.Tyr4605Ter)
| gnomAD v4 |
| 1 | g.215671290A= | CA1220372222 | USH2A | c.13815T= (p.Tyr4605=)
| |
| 1 | g.215671290A>C | CA344842059 | USH2A | c.13815T>G (p.Tyr4605Ter)
| |
| 1 | g.215671290A>G | CA423426641 | USH2A | c.13815T>C (p.Tyr4605=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671290A>T | CA344842058 | USH2A | c.13815T>A (p.Tyr4605Ter)
| |
| 1 | g.215671291T>A | CA344842062 | USH2A | c.13814A>T (p.Tyr4605Phe)
| |
| 1 | g.215671291T>C | CA344842066 | USH2A | c.13814A>G (p.Tyr4605Cys)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215671291T>G | CA344842064 | USH2A | c.13814A>C (p.Tyr4605Ser)
| |
| 1 | g.215671291T= | CA1220372223 | USH2A | c.13814A= (p.Tyr4605=)
| |
| 1 | g.215671291_215671300del | CA2747717466 | USH2A | c.13812-7_13814del
| |
| 1 | g.215671292A>C | CA344842072 | USH2A | c.13813T>G (p.Tyr4605Asp)
| |
| 1 | g.215671292A>G | CA344842081 | USH2A | c.13813T>C (p.Tyr4605His)
| gnomAD v4 |
| 1 | g.215671292A>T | CA344842074 | USH2A | c.13813T>A (p.Tyr4605Asn)
| gnomAD v4 |
| 1 | g.215671293C>A | CA344842082 | USH2A | c.13812G>T (p.Arg4604Ser)
| |
| 1 | g.215671293C= | CA1220372224 | USH2A | c.13812G= (p.Arg4604=)
| |
| 1 | g.215671293C>G | CA344842089 | USH2A | c.13812G>C (p.Arg4604Ser)
| |
| 1 | g.215671293C>T | CA37410306 | USH2A | c.13812G>A (p.Arg4604=)
| dbSNP |
| 1 | g.215671293_215671294insAGAG | CA2747717467 | USH2A | c.13812-1_13812insCTCT (n.13812-1_13812insCTCT)
| |
| 1 | g.215671294C>A | CA344842092 | USH2A | c.13812-1G>T (n.13812-1G>T)
| ClinVar |
| 1 | g.215671294C= | CA1143374797 | USH2A | c.13812-1G= (n.13812-1G=)
| |
| 1 | g.215671294C>G | CA344842095 | USH2A | c.13812-1G>C (n.13812-1G>C)
| |
| 1 | g.215671294C>T | CA37410313 | USH2A | c.13812-1G>A (n.13812-1G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671295T>A | CA344842097 | USH2A | c.13812-2A>T (n.13812-2A>T)
| |
| 1 | g.215671295T>C | CA344842098 | USH2A | c.13812-2A>G (n.13812-2A>G)
| |
| 1 | g.215671295T>G | CA344842099 | USH2A | c.13812-2A>C (n.13812-2A>C)
| |
| 1 | g.215671297C= | CA1220372225 | USH2A | c.13812-4G= (n.13812-4G=)
| |
| 1 | g.215671297C>G | CA2580062073 | USH2A | c.13812-4G>C (n.13812-4G>C)
| ClinVar |
| 1 | g.215671297C>T | CA1393194 | USH2A | c.13812-4G>A (n.13812-4G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671297_215671298delinsCA | CA1220372226 | USH2A | c.13812-5_13812-4delinsTG (n.13812-5_13812-4delinsTG)
| |
| 1 | g.215671298del | CA731332991 | USH2A | c.13812-5del (n.13812-5del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671298A= | CA1143806217 | USH2A | c.13812-5T= (n.13812-5T=)
| |
| 1 | g.215671298A>G | CA1393195 | USH2A | c.13812-5T>C (n.13812-5T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671299G>C | CA2650500261 | USH2A | c.13812-6C>G (n.13812-6C>G)
| gnomAD v4 |
| 1 | g.215671300G>C | CA528702960 | USH2A | c.13812-7C>G (n.13812-7C>G)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671300G= | CA1220372227 | USH2A | c.13812-7C= (n.13812-7C=)
| |
| 1 | g.215671301del | CA2573131562 | USH2A | c.13812-8del (n.13812-8del)
| ClinVar dbSNP |
| 1 | g.215671301A= | CA1220372229 | USH2A | c.13812-8T= (n.13812-8T=)
| |
| 1 | g.215671301A>G | CA2499214436 | USH2A | c.13812-8T>C (n.13812-8T>C)
| ClinVar dbSNP |
| 1 | g.215671301A>T | CA1220372228 | USH2A | c.13812-8T>A (n.13812-8T>A)
| dbSNP gnomAD v4 |
| 1 | g.215671303A>G | CA2499214437 | USH2A | c.13812-10T>C (n.13812-10T>C)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215671304T>C | CA528702961 | USH2A | c.13812-11A>G (n.13812-11A>G)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671304T= | CA1220372230 | USH2A | c.13812-11A= (n.13812-11A=)
| |
| 1 | g.215671305A>G | CA2650500262 | USH2A | c.13812-12T>C (n.13812-12T>C)
| gnomAD v4 |
| 1 | g.215671307_215671313del | CA2747717468 | USH2A | c.13812-18_13812-12del (n.13812-18_13812-12del)
| |
| 1 | g.215671306A= | CA1220372231 | USH2A | c.13812-13T= (n.13812-13T=)
| |
| 1 | g.215671306A>T | CA1393196 | USH2A | c.13812-13T>A (n.13812-13T>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671307G>A | CA2574000842 | USH2A | c.13812-14C>T (n.13812-14C>T)
| ClinVar gnomAD v4 |
| 1 | g.215671309C>A | CA2650500263 | USH2A | c.13812-16G>T (n.13812-16G>T)
| gnomAD v4 |
| 1 | g.215671313A= | CA1220372232 | USH2A | c.13812-20T= (n.13812-20T=)
| |
| 1 | g.215671313A>C | CA528702962 | USH2A | c.13812-20T>G (n.13812-20T>G)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671315T>C | CA2747717469 | USH2A | c.13812-22A>G (n.13812-22A>G)
| |
| 1 | g.215671316T>C | CA1393197 | USH2A | c.13812-23A>G (n.13812-23A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671316T= | CA1220372233 | USH2A | c.13812-23A= (n.13812-23A=)
| |
| 1 | g.215671318_215671330del | CA2747717470 | USH2A | c.13812-36_13812-24del (n.13812-36_13812-24del)
| |
| 1 | g.215671318G>A | CA528702963 | USH2A | c.13812-25C>T (n.13812-25C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215671318G>C | CA2650500264 | USH2A | c.13812-25C>G (n.13812-25C>G)
| gnomAD v4 |
| 1 | g.215671318G= | CA1220372234 | USH2A | c.13812-25C= (n.13812-25C=)
| |
