| 1 | g.216418539_216418680delinsTTCACAAGAATTCTCCCCAGTGTCATTACTTTTATTGGAGGTTGCAAACCATTTACTGTGCGATAATAAAACATGGTCTCTTTCTCAGATATTGTAAGTTTGAACACAATCTGCCCATCTACTGTCTTTTCTATAACACACC | CA1220688185 | USH2A | c.486-1_626delinsGGTGTGTTATAGAAAAGACAGTAGATGGGCAGATTGTGTTCAAACTTACAATATCTGAGAAAGAGACCATGTTTTATTATCGCACAGTAAATGGTTTGCAACCTCCAATAAAAGTAATGACACTGGGGAGAATTCTTGTGAA
| |
| 1 | g.216418541_216418681del | CA915942016 | USH2A | c.486-1_625del
| ClinVar dbSNP |
| 1 | g.216418542_216418680del | CA2573132657 | USH2A | c.486_624del
| ClinVar dbSNP |
| 1 | g.216418616_216418620delinsCTCTT | CA1220688332 | USH2A | c.545_549delinsAAGAG (p.Lys182=)
| |
| 1 | g.216418617T>A | CA344902564 | USH2A | c.548A>T (p.Glu183Val)
| |
| 1 | g.216418617T>C | CA344902562 | USH2A | c.548A>G (p.Glu183Gly)
| |
| 1 | g.216418617T>G | CA344902560 | USH2A | c.548A>C (p.Glu183Ala)
| |
| 1 | g.216418618_216418620del | CA913072816 | USH2A | c.546_548del (p.Glu183del)
| |
| 1 | g.216418620_216418623del | CA529004326 | USH2A | c.545_548del (p.Lys182ArgfsTer9)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216418618C>A | CA344902567 | USH2A | c.547G>T (p.Glu183Ter)
| |
| 1 | g.216418618C>G | CA344902569 | USH2A | c.547G>C (p.Glu183Gln)
| |
| 1 | g.216418618C>T | CA344902571 | USH2A | c.547G>A (p.Glu183Lys)
| gnomAD v4 |
| 1 | g.216418618_216418620delinsCTT | CA1220688339 | USH2A | c.545_547delinsAAG (p.Lys182=)
| |
| 1 | g.216418619T>A | CA344902574 | USH2A | c.546A>T (p.Lys182Asn)
| |
| 1 | g.216418619T>C | CA1396756 | USH2A | c.546A>G (p.Lys182=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216418619T>G | CA344902578 | USH2A | c.546A>C (p.Lys182Asn)
| |
| 1 | g.216418619T= | CA1220688350 | USH2A | c.546A= (p.Lys182=)
| |
| 1 | g.216418620_216418621del | CA1396755 | USH2A | c.545_546del (p.Lys182ArgfsTer?)
| ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.216418620T>A | CA344902583 | USH2A | c.545A>T (p.Lys182Ile)
| |
| 1 | g.216418620T>C | CA344902585 | USH2A | c.545A>G (p.Lys182Arg)
| |
| 1 | g.216418620T>G | CA344902587 | USH2A | c.545A>C (p.Lys182Thr)
| |
| 1 | g.216418621T>A | CA344902591 | USH2A | c.544A>T (p.Lys182Ter)
| |
| 1 | g.216418621T>C | CA344902593 | USH2A | c.544A>G (p.Lys182Glu)
| |
| 1 | g.216418621T>G | CA344902595 | USH2A | c.544A>C (p.Lys182Gln)
| |
| 1 | g.216418622C>A | CA344902598 | USH2A | c.543G>T (p.Glu181Asp)
| |
| 1 | g.216418622C= | CA1220688354 | USH2A | c.543G= (p.Glu181=)
| |
| 1 | g.216418622C>G | CA344902600 | USH2A | c.543G>C (p.Glu181Asp)
| |
| 1 | g.216418622C>T | CA1396757 | USH2A | c.543G>A (p.Glu181=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216418623T>A | CA344902605 | USH2A | c.542A>T (p.Glu181Val)
| |
| 1 | g.216418623T>C | CA344902603 | USH2A | c.542A>G (p.Glu181Gly)
| |
| 1 | g.216418623T>G | CA344902607 | USH2A | c.542A>C (p.Glu181Ala)
| |
| 1 | g.216418624C>A | CA344902610 | USH2A | c.541G>T (p.Glu181Ter)
| |
| 1 | g.216418624C>G | CA344902612 | USH2A | c.541G>C (p.Glu181Gln)
| |
| 1 | g.216418624C>T | CA344902615 | USH2A | c.541G>A (p.Glu181Lys)
| |
| 1 | g.216418625A>C | CA423396272 | USH2A | c.540T>G (p.Ser180=)
| ClinVar dbSNP |
| 1 | g.216418625A>G | CA423396273 | USH2A | c.540T>C (p.Ser180=)
| |
| 1 | g.216418625A>T | CA423396274 | USH2A | c.540T>A (p.Ser180=)
| |
| 1 | g.216418626G>A | CA344902617 | USH2A | c.539C>T (p.Ser180Phe)
| |
| 1 | g.216418626G>C | CA344902620 | USH2A | c.539C>G (p.Ser180Cys)
| gnomAD v4 |
| 1 | g.216418626G>T | CA344902622 | USH2A | c.539C>A (p.Ser180Tyr)
| |
| 1 | g.216418627A= | CA1220688358 | USH2A | c.538T= (p.Ser180=)
| |
| 1 | g.216418627A>C | CA344902625 | USH2A | c.538T>G (p.Ser180Ala)
| |
| 1 | g.216418627A>G | CA344902627 | USH2A | c.538T>C (p.Ser180Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216418627A>T | CA344902630 | USH2A | c.538T>A (p.Ser180Thr)
| |
| 1 | g.216418628T>A | CA423396276 | USH2A | c.537A>T (p.Ile179=)
| |
| 1 | g.216418628T>C | CA344902632 | USH2A | c.537A>G (p.Ile179Met)
| gnomAD v4 |
| 1 | g.216418628T>G | CA423396277 | USH2A | c.537A>C (p.Ile179=)
| |
| 1 | g.216418629A= | CA1220688364 | USH2A | c.536T= (p.Ile179=)
| |
| 1 | g.216418629A>C | CA344902638 | USH2A | c.536T>G (p.Ile179Arg)
| |
| 1 | g.216418629A>G | CA1396758 | USH2A | c.536T>C (p.Ile179Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216418629A>T | CA344902635 | USH2A | c.536T>A (p.Ile179Lys)
| |
| 1 | g.216418630T>A | CA344902640 | USH2A | c.535A>T (p.Ile179Leu)
| |
| 1 | g.216418630T>C | CA344902642 | USH2A | c.535A>G (p.Ile179Val)
| |
| 1 | g.216418630T>G | CA344902645 | USH2A | c.535A>C (p.Ile179Leu)
| |
| 1 | g.216418631T>A | CA423396278 | USH2A | c.534A>T (p.Thr178=)
| |
| 1 | g.216418631T>C | CA423396280 | USH2A | c.534A>G (p.Thr178=)
| |
| 1 | g.216418631T>G | CA423396279 | USH2A | c.534A>C (p.Thr178=)
| |
| 1 | g.216418632G>A | CA344902648 | USH2A | c.533C>T (p.Thr178Ile)
| gnomAD v4 |
| 1 | g.216418632G>C | CA344902649 | USH2A | c.533C>G (p.Thr178Arg)
| |
| 1 | g.216418632G= | CA1220688367 | USH2A | c.533C= (p.Thr178=)
| |
| 1 | g.216418632G>T | CA37921746 | USH2A | c.533C>A (p.Thr178Lys)
| dbSNP |
| 1 | g.216418633T>A | CA344902654 | USH2A | c.532A>T (p.Thr178Ser)
| |
| 1 | g.216418633T>C | CA344902656 | USH2A | c.532A>G (p.Thr178Ala)
| |
| 1 | g.216418633T>G | CA344902658 | USH2A | c.532A>C (p.Thr178Pro)
| |
| 1 | g.216418633dup | CA915942017 | USH2A | c.532dup (p.Thr178AsnfsTer4)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216418634A>C | CA423396281 | USH2A | c.531T>G (p.Leu177=)
| |
| 1 | g.216418634A>G | CA423396282 | USH2A | c.531T>C (p.Leu177=)
| |
| 1 | g.216418634A>T | CA423396283 | USH2A | c.531T>A (p.Leu177=)
| |
| 1 | g.216418635A>C | CA344902660 | USH2A | c.530T>G (p.Leu177Arg)
| ClinVar |
| 1 | g.216418635A>G | CA344902662 | USH2A | c.530T>C (p.Leu177Pro)
| |
| 1 | g.216418635A>T | CA344902664 | USH2A | c.530T>A (p.Leu177His)
| |
| 1 | g.216418636G>A | CA344902668 | USH2A | c.529C>T (p.Leu177Phe)
| COSMIC COSMIC COSMIC |
| 1 | g.216418636G>C | CA344902669 | USH2A | c.529C>G (p.Leu177Val)
| |
| 1 | g.216418636G>T | CA344902667 | USH2A | c.529C>A (p.Leu177Ile)
| |
| 1 | g.216418637T>A | CA344902670 | USH2A | c.528A>T (p.Lys176Asn)
| |
| 1 | g.216418637T>C | CA1396759 | USH2A | c.528A>G (p.Lys176=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216418637T>G | CA344902673 | USH2A | c.528A>C (p.Lys176Asn)
| |
| 1 | g.216418637T= | CA1220688377 | USH2A | c.528A= (p.Lys176=)
| |
| 1 | g.216418638T>A | CA344902677 | USH2A | c.527A>T (p.Lys176Ile)
| |
| 1 | g.216418638T>C | CA344902679 | USH2A | c.527A>G (p.Lys176Arg)
| gnomAD v4 |
| 1 | g.216418638T>G | CA344902680 | USH2A | c.527A>C (p.Lys176Thr)
| |
| 1 | g.216418639T>A | CA344902682 | USH2A | c.526A>T (p.Lys176Ter)
| |
| 1 | g.216418639T>C | CA344902684 | USH2A | c.526A>G (p.Lys176Glu)
| |
| 1 | g.216418639T>G | CA1396760 | USH2A | c.526A>C (p.Lys176Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216418639T= | CA1220688381 | USH2A | c.526A= (p.Lys176=)
| |
| 1 | g.216418640G>A | CA423396284 | USH2A | c.525C>T (p.Phe175=)
| |
| 1 | g.216418640G>C | CA344902688 | USH2A | c.525C>G (p.Phe175Leu)
| gnomAD v4 |
| 1 | g.216418640G= | CA1220688383 | USH2A | c.525C= (p.Phe175=)
| |
| 1 | g.216418640G>T | CA344902689 | USH2A | c.525C>A (p.Phe175Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216418641A= | CA1220688385 | USH2A | c.524T= (p.Phe175=)
| |
| 1 | g.216418641A>C | CA344902694 | USH2A | c.524T>G (p.Phe175Cys)
| |
| 1 | g.216418641A>G | CA344902696 | USH2A | c.524T>C (p.Phe175Ser)
| |
| 1 | g.216418641A>T | CA344902692 | USH2A | c.524T>A (p.Phe175Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216418642A>C | CA344902699 | USH2A | c.523T>G (p.Phe175Val)
| |
| 1 | g.216418642A>G | CA344902701 | USH2A | c.523T>C (p.Phe175Leu)
| |
| 1 | g.216418642A>T | CA344902703 | USH2A | c.523T>A (p.Phe175Ile)
| |
| 1 | g.216418643C>A | CA423396285 | USH2A | c.522G>T (p.Val174=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216418643C= | CA1220688387 | USH2A | c.522G= (p.Val174=)
| |
| 1 | g.216418643C>G | CA423396286 | USH2A | c.522G>C (p.Val174=)
| |
| 1 | g.216418643C>T | CA1396761 | USH2A | c.522G>A (p.Val174=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216418644A>C | CA344902712 | USH2A | c.521T>G (p.Val174Gly)
| |
| 1 | g.216418644A>G | CA344902710 | USH2A | c.521T>C (p.Val174Ala)
| |
| 1 | g.216418644A>T | CA344902708 | USH2A | c.521T>A (p.Val174Glu)
| |
| 1 | g.216418645C>A | CA344902715 | USH2A | c.520G>T (p.Val174Leu)
| |
| 1 | g.216418645C= | CA1220688389 | USH2A | c.520G= (p.Val174=)
| |
| 1 | g.216418645C>G | CA344902717 | USH2A | c.520G>C (p.Val174Leu)
| |
| 1 | g.216418645C>T | CA344902719 | USH2A | c.520G>A (p.Val174Met)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216418646A= | CA1220688391 | USH2A | c.519T= (p.Ile173=)
| |
| 1 | g.216418646A>C | CA344902722 | USH2A | c.519T>G (p.Ile173Met)
| |
| 1 | g.216418646A>G | CA423396287 | USH2A | c.519T>C (p.Ile173=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216418646A>T | CA423396288 | USH2A | c.519T>A (p.Ile173=)
| |
| 1 | g.216418647A= | CA1220688396 | USH2A | c.518T= (p.Ile173=)
| |
| 1 | g.216418647A>C | CA344902724 | USH2A | c.518T>G (p.Ile173Ser)
| |
| 1 | g.216418647A>G | CA344902726 | USH2A | c.518T>C (p.Ile173Thr)
| dbSNP gnomAD v2 |
| 1 | g.216418647A>T | CA1396762 | USH2A | c.518T>A (p.Ile173Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216418648T>A | CA344902733 | USH2A | c.517A>T (p.Ile173Phe)
| |
| 1 | g.216418648T>C | CA344902735 | USH2A | c.517A>G (p.Ile173Val)
| |
| 1 | g.216418648T>G | CA344902731 | USH2A | c.517A>C (p.Ile173Leu)
| |
| 1 | g.216418649C>A | CA344902737 | USH2A | c.516G>T (p.Gln172His)
| |
| 1 | g.216418649C= | CA1143951268 | USH2A | c.516G= (p.Gln172=)
| |
| 1 | g.216418649C>G | CA344902739 | USH2A | c.516G>C (p.Gln172His)
| |
| 1 | g.216418649C>T | CA1396763 | USH2A | c.516G>A (p.Gln172=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216418650T>A | CA344902743 | USH2A | c.515A>T (p.Gln172Leu)
| |
| 1 | g.216418650T>C | CA344902745 | USH2A | c.515A>G (p.Gln172Arg)
| |
| 1 | g.216418650T>G | CA344902747 | USH2A | c.515A>C (p.Gln172Pro)
| |
| 1 | g.216418651G>A | CA344902752 | USH2A | c.514C>T (p.Gln172Ter)
| |
| 1 | g.216418651G>C | CA344902753 | USH2A | c.514C>G (p.Gln172Glu)
| |
| 1 | g.216418651G>T | CA344902756 | USH2A | c.514C>A (p.Gln172Lys)
| |
| 1 | g.216418652C>A | CA423396290 | USH2A | c.513G>T (p.Gly171=)
| gnomAD v4 |
| 1 | g.216418652C>G | CA423396292 | USH2A | c.513G>C (p.Gly171=)
| |
| 1 | g.216418652C>T | CA423396291 | USH2A | c.513G>A (p.Gly171=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216418653C>A | CA344902759 | USH2A | c.512G>T (p.Gly171Val)
| |
| 1 | g.216418653C= | CA1220688402 | USH2A | c.512G= (p.Gly171=)
| |
| 1 | g.216418653C>G | CA344902761 | USH2A | c.512G>C (p.Gly171Ala)
| |
| 1 | g.216418653C>T | CA344902763 | USH2A | c.512G>A (p.Gly171Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216418654C>A | CA37921747 | USH2A | c.511G>T (p.Gly171Trp)
| dbSNP |
| 1 | g.216418654C= | CA1220688405 | USH2A | c.511G= (p.Gly171=)
| |
| 1 | g.216418654C>G | CA344902767 | USH2A | c.511G>C (p.Gly171Arg)
| |
| 1 | g.216418654C>T | CA1396764 | USH2A | c.511G>A (p.Gly171Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216418655A>C | CA344902772 | USH2A | c.510T>G (p.Asp170Glu)
| |
| 1 | g.216418655A>G | CA423396293 | USH2A | c.510T>C (p.Asp170=)
| ClinVar dbSNP |
| 1 | g.216418655A>T | CA344902774 | USH2A | c.510T>A (p.Asp170Glu)
| |
| 1 | g.216418656T>A | CA344902777 | USH2A | c.509A>T (p.Asp170Val)
| |
| 1 | g.216418656T>C | CA344902779 | USH2A | c.509A>G (p.Asp170Gly)
| |
| 1 | g.216418656T>G | CA344902781 | USH2A | c.509A>C (p.Asp170Ala)
| |
| 1 | g.216418657_216418658del | CA2747740484 | USH2A | c.508_509del (p.Asp170TrpfsTer11)
| |
| 1 | g.216418657C>A | CA344902783 | USH2A | c.508G>T (p.Asp170Tyr)
| COSMIC COSMIC COSMIC |
| 1 | g.216418657C>G | CA344902785 | USH2A | c.508G>C (p.Asp170His)
| |
| 1 | g.216418657C>T | CA344902787 | USH2A | c.508G>A (p.Asp170Asn)
| |
| 1 | g.216418658T>A | CA423396294 | USH2A | c.507A>T (p.Val169=)
| dbSNP |
| 1 | g.216418658T>C | CA423396295 | USH2A | c.507A>G (p.Val169=)
| |
| 1 | g.216418658T>G | CA423396296 | USH2A | c.507A>C (p.Val169=)
| |
| 1 | g.216418659A>C | CA344902791 | USH2A | c.506T>G (p.Val169Gly)
| COSMIC COSMIC COSMIC |
| 1 | g.216418659A>G | CA344902792 | USH2A | c.506T>C (p.Val169Ala)
| ClinVar dbSNP |
| 1 | g.216418659A>T | CA344902794 | USH2A | c.506T>A (p.Val169Glu)
| |
| 1 | g.216418660C>A | CA344902797 | USH2A | c.505G>T (p.Val169Leu)
| |
| 1 | g.216418660C= | CA1220688409 | USH2A | c.505G= (p.Val169=)
| |
| 1 | g.216418660C>G | CA344902799 | USH2A | c.505G>C (p.Val169Leu)
| |
| 1 | g.216418660C>T | CA344902800 | USH2A | c.505G>A (p.Val169Ile)
| dbSNP |
| 1 | g.216418661T>A | CA423396297 | USH2A | c.504A>T (p.Thr168=)
| dbSNP |
| 1 | g.216418661T>C | CA143509 | USH2A | c.504A>G (p.Thr168=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216418661T>G | CA423396298 | USH2A | c.504A>C (p.Thr168=)
| dbSNP |
| 1 | g.216418661T= | CA1140014605 | USH2A | c.504A= (p.Thr168=)
| |
| 1 | g.216418661_216418662delinsCA | CA2580062147 | USH2A | c.503_504delinsTG (p.Thr168Met)
| ClinVar |
| 1 | g.216418662G>A | CA1396765 | USH2A | c.503C>T (p.Thr168Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216418662G>C | CA344902805 | USH2A | c.503C>G (p.Thr168Arg)
| gnomAD v4 |
| 1 | g.216418662G= | CA1220688419 | USH2A | c.503C= (p.Thr168=)
| |
| 1 | g.216418662G>T | CA344902803 | USH2A | c.503C>A (p.Thr168Lys)
| |
| 1 | g.216418663T>A | CA1396766 | USH2A | c.502A>T (p.Thr168Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216418663T>C | CA344902809 | USH2A | c.502A>G (p.Thr168Ala)
| |
| 1 | g.216418663T>G | CA344902811 | USH2A | c.502A>C (p.Thr168Pro)
| |
| 1 | g.216418663T= | CA1220688422 | USH2A | c.502A= (p.Thr168=)
| |
| 1 | g.216418664C>A | CA344902814 | USH2A | c.501G>T (p.Lys167Asn)
| |
| 1 | g.216418664C>G | CA344902817 | USH2A | c.501G>C (p.Lys167Asn)
| |
| 1 | g.216418664C>T | CA423396299 | USH2A | c.501G>A (p.Lys167=)
| |
| 1 | g.216418665T>A | CA344902819 | USH2A | c.500A>T (p.Lys167Met)
| |
| 1 | g.216418665T>C | CA344902821 | USH2A | c.500A>G (p.Lys167Arg)
| gnomAD v4 |
| 1 | g.216418665T>G | CA344902822 | USH2A | c.500A>C (p.Lys167Thr)
| |
| 1 | g.216418666T>A | CA344902824 | USH2A | c.499A>T (p.Lys167Ter)
| |
| 1 | g.216418666T>C | CA344902827 | USH2A | c.499A>G (p.Lys167Glu)
| dbSNP |
| 1 | g.216418666T>G | CA344902829 | USH2A | c.499A>C (p.Lys167Gln)
| |
| 1 | g.216418667T>A | CA344902830 | USH2A | c.498A>T (p.Glu166Asp)
| COSMIC |
| 1 | g.216418667T>C | CA423396300 | USH2A | c.498A>G (p.Glu166=)
| |
| 1 | g.216418667T>G | CA344902831 | USH2A | c.498A>C (p.Glu166Asp)
| |
| 1 | g.216418668T>A | CA344902838 | USH2A | c.497A>T (p.Glu166Val)
| |
| 1 | g.216418668T>C | CA1396767 | USH2A | c.497A>G (p.Glu166Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216418668T>G | CA344902836 | USH2A | c.497A>C (p.Glu166Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216418668T= | CA1148562284 | USH2A | c.497A= (p.Glu166=)
| |
| 1 | g.216418669C>A | CA344902841 | USH2A | c.496G>T (p.Glu166Ter)
| |
| 1 | g.216418669C>G | CA344902843 | USH2A | c.496G>C (p.Glu166Gln)
| |
| 1 | g.216418669C>T | CA344902845 | USH2A | c.496G>A (p.Glu166Lys)
| |
| 1 | g.216418670T>A | CA423396302 | USH2A | c.495A>T (p.Ile165=)
| |
| 1 | g.216418670T>C | CA344902848 | USH2A | c.495A>G (p.Ile165Met)
| gnomAD v4 |
| 1 | g.216418670T>G | CA423396303 | USH2A | c.495A>C (p.Ile165=)
| |
| 1 | g.216418671A>C | CA344902850 | USH2A | c.494T>G (p.Ile165Arg)
| |
| 1 | g.216418671A>G | CA344902852 | USH2A | c.494T>C (p.Ile165Thr)
| |
| 1 | g.216418671A>T | CA344902854 | USH2A | c.494T>A (p.Ile165Lys)
| |
| 1 | g.216418672T>A | CA344902857 | USH2A | c.493A>T (p.Ile165Leu)
| |
| 1 | g.216418672T>C | CA344902859 | USH2A | c.493A>G (p.Ile165Val)
| |
| 1 | g.216418672T>G | CA344902861 | USH2A | c.493A>C (p.Ile165Leu)
| |
| 1 | g.216418673A= | CA1220688429 | USH2A | c.492T= (p.Val164=)
| |
| 1 | g.216418673A>C | CA423396306 | USH2A | c.492T>G (p.Val164=)
| |
| 1 | g.216418673A>G | CA423396305 | USH2A | c.492T>C (p.Val164=)
| gnomAD v4 |
| 1 | g.216418673A>T | CA423396304 | USH2A | c.492T>A (p.Val164=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216418674A= | CA1220688431 | USH2A | c.491T= (p.Val164=)
| |
| 1 | g.216418674A>C | CA344902864 | USH2A | c.491T>G (p.Val164Gly)
| |
| 1 | g.216418674A>G | CA344902866 | USH2A | c.491T>C (p.Val164Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216418674A>T | CA344902868 | USH2A | c.491T>A (p.Val164Asp)
| |
| 1 | g.216418678_216418679del | CA2586968315 | USH2A | c.490_491del (p.Val164TyrfsTer17)
| |
| 1 | g.216418675C>A | CA270157 | USH2A | c.490G>T (p.Val164Phe)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216418675C= | CA1144233470 | USH2A | c.490G= (p.Val164=)
| |
| 1 | g.216418675C>G | CA344902874 | USH2A | c.490G>C (p.Val164Leu)
| gnomAD v4 |
| 1 | g.216418675C>T | CA344902871 | USH2A | c.490G>A (p.Val164Ile)
| gnomAD v4 |
| 1 | g.216418676A>C | CA344902878 | USH2A | c.489T>G (p.Cys163Trp)
| gnomAD v4 |
| 1 | g.216418676A>G | CA423396307 | USH2A | c.489T>C (p.Cys163=)
| |
| 1 | g.216418676A>T | CA344902876 | USH2A | c.489T>A (p.Cys163Ter)
| gnomAD v4 |
| 1 | g.216418677C>A | CA344902883 | USH2A | c.488G>T (p.Cys163Phe)
| gnomAD v4 |
| 1 | g.216418677C>G | CA344902881 | USH2A | c.488G>C (p.Cys163Ser)
| |
| 1 | g.216418677C>T | CA344902885 | USH2A | c.488G>A (p.Cys163Tyr)
| gnomAD v4 |
| 1 | g.216418678A= | CA1220688444 | USH2A | c.487T= (p.Cys163=)
| |
| 1 | g.216418678A>C | CA344902888 | USH2A | c.487T>G (p.Cys163Gly)
| |
| 1 | g.216418678A>G | CA344902891 | USH2A | c.487T>C (p.Cys163Arg)
| ClinVar dbSNP |
| 1 | g.216418678A>T | CA344902893 | USH2A | c.487T>A (p.Cys163Ser)
| |
| 1 | g.216418679C>A | CA344902896 | USH2A | c.486G>T (p.Met162Ile)
| |
| 1 | g.216418679C= | CA1220688447 | USH2A | c.486G= (p.Met162=)
| |
| 1 | g.216418679C>G | CA344902898 | USH2A | c.486G>C (p.Met162Ile)
| gnomAD v4 |
| 1 | g.216418679C>T | CA344902900 | USH2A | c.486G>A (p.Met162Ile)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216418679_216418680insA | CA2747740485 | USH2A | c.486-1_486insT (n.486-1_486insT)
| |
| 1 | g.216418680C>A | CA344902903 | USH2A | c.486-1G>T (n.486-1G>T)
| |
| 1 | g.216418680C= | CA1220688460 | USH2A | c.486-1G= (n.486-1G=)
| |
| 1 | g.216418680C>G | CA10576390 | USH2A | c.486-1G>C (n.486-1G>C)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216418680C>T | CA344902906 | USH2A | c.486-1G>A (n.486-1G>A)
| gnomAD v4 |
| 1 | g.216418680_216418683delinsCTTA | CA1220688454 | USH2A | c.486-4_486-1delinsTAAG (n.486-4_486-1delinsTAAG)
| |
| 1 | g.216418681T>A | CA344902910 | USH2A | c.486-2A>T (n.486-2A>T)
| |
| 1 | g.216418681T>C | CA344902912 | USH2A | c.486-2A>G (n.486-2A>G)
| |
| 1 | g.216418681T>G | CA344902914 | USH2A | c.486-2A>C (n.486-2A>C)
| ClinVar |
| 1 | g.216418681_216418683del | CA1396768 | USH2A | c.486-4_486-2del (n.486-4_486-2del)
| ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.216418681_216418683delinsTTA | CA1148568280 | USH2A | c.486-4_486-2delinsTAA (n.486-4_486-2delinsTAA)
| |
| 1 | g.216418682T>C | CA2574163800 | USH2A | c.486-3A>G (n.486-3A>G)
| gnomAD v4 |
| 1 | g.216418683A= | CA1143546392 | USH2A | c.486-4T= (n.486-4T=)
| |
| 1 | g.216418683A>C | CA731379439 | USH2A | c.486-4T>G (n.486-4T>G)
| dbSNP |
| 1 | g.216418683A>G | CA1396769 | USH2A | c.486-4T>C (n.486-4T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216418684G>A | CA2650513328 | USH2A | c.486-5C>T (n.486-5C>T)
| gnomAD v4 |
| 1 | g.216418685del | CA2650513327 | USH2A | c.486-5del (n.486-5del)
| gnomAD v4 |
| 1 | g.216418685G>A | CA37921748 | USH2A | c.486-6C>T (n.486-6C>T)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216418685G= | CA1220688468 | USH2A | c.486-6C= (n.486-6C=)
| |
| 1 | g.216418686A= | CA1143226924 | USH2A | c.486-7T= (n.486-7T=)
| |
| 1 | g.216418686A>C | CA1396770 | USH2A | c.486-7T>G (n.486-7T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216418687_216418688del | CA2747740486 | USH2A | c.486-9_486-8del (n.486-9_486-8del)
| |
| 1 | g.216418688G>A | CA37921749 | USH2A | c.486-9C>T (n.486-9C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216418688G= | CA1220688473 | USH2A | c.486-9C= (n.486-9C=)
| |
| 1 | g.216418689C>A | CA2739275660 | USH2A | c.486-10G>T (n.486-10G>T)
| ClinVar |
| 1 | g.216418689C>T | CA2650513329 | USH2A | c.486-10G>A (n.486-10G>A)
| gnomAD v4 |
| 1 | g.216418692C>A | CA529004327 | USH2A | c.486-13G>T (n.486-13G>T)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216418692C= | CA1141526508 | USH2A | c.486-13G= (n.486-13G=)
| |
| 1 | g.216418692C>T | CA179592 | USH2A | c.486-13G>A (n.486-13G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216418692_216418693insACA | CA2747740487 | USH2A | c.486-14_486-13insTGT (n.486-14_486-13insTGT)
| |
| 1 | g.216418693C>A | CA2747740489 | USH2A | c.486-14G>T (n.486-14G>T)
| |
| 1 | g.216418693C= | CA1144001068 | USH2A | c.486-14G= (n.486-14G=)
| |
| 1 | g.216418693C>T | CA1396771 | USH2A | c.486-14G>A (n.486-14G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216418693_216418696del | CA2747740488 | USH2A | c.486-17_486-14del (n.486-17_486-14del)
| |
| 1 | g.216418694G>A | CA1396772 | USH2A | c.486-15C>T (n.486-15C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216418694G>C | CA646414863 | USH2A | c.486-15C>G (n.486-15C>G)
| COSMIC |
| 1 | g.216418694G= | CA1141386286 | USH2A | c.486-15C= (n.486-15C=)
| |
| 1 | g.216418694G>T | CA2650513330 | USH2A | c.486-15C>A (n.486-15C>A)
| gnomAD v4 |
| 1 | g.216418695G>C | CA2747740490 | USH2A | c.486-16C>G (n.486-16C>G)
| |
| 1 | g.216418695_216418696delinsGA | CA1220688489 | USH2A | c.486-17_486-16delinsTC (n.486-17_486-16delinsTC)
| |
| 1 | g.216418696A= | CA1220688493 | USH2A | c.486-17T= (n.486-17T=)
| |
| 1 | g.216418696A>C | CA1220688492 | USH2A | c.486-17T>G (n.486-17T>G)
| ClinVar dbSNP |
| 1 | g.216418696A>T | CA2650513331 | USH2A | c.486-17T>A (n.486-17T>A)
| gnomAD v4 |
| 1 | g.216418699del | CA1396773 | USH2A | c.486-17del (n.486-17del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216418698A>C | CA2747740491 | USH2A | c.486-19T>G (n.486-19T>G)
| |
| 1 | g.216418699A= | CA1220688495 | USH2A | c.486-20T= (n.486-20T=)
| |
| 1 | g.216418699A>G | CA1396774 | USH2A | c.486-20T>C (n.486-20T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216418704_216418705del | CA2747740492 | USH2A | c.486-21_486-20del (n.486-21_486-20del)
| |
| 1 | g.216418700G>A | CA2650513332 | USH2A | c.486-21C>T (n.486-21C>T)
| gnomAD v4 |
| 1 | g.216418700_216418718del | CA2747740493 | USH2A | c.486-39_486-21del (n.486-39_486-21del)
| |
| 1 | g.216418701A= | CA1220688498 | USH2A | c.486-22T= (n.486-22T=)
| |
| 1 | g.216418701A>G | CA731379455 | USH2A | c.486-22T>C (n.486-22T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216418702G>C | CA1012214090 | USH2A | c.486-23C>G (n.486-23C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216418702G= | CA1220688500 | USH2A | c.486-23C= (n.486-23C=)
| |
| 1 | g.216418704G>A | CA2650513333 | USH2A | c.486-25C>T (n.486-25C>T)
| gnomAD v4 |
| 1 | g.216418704G>C | CA2650513334 | USH2A | c.486-25C>G (n.486-25C>G)
| gnomAD v4 |
| 1 | g.216418704G= | CA1220688502 | USH2A | c.486-25C= (n.486-25C=)
| |
| 1 | g.216418704G>T | CA37921750 | USH2A | c.486-25C>A (n.486-25C>A)
| dbSNP |
| 1 | g.216418708dup | CA731379459 | USH2A | c.486-26dup (n.486-26dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216418707A>C | CA2747740494 | USH2A | c.486-28T>G (n.486-28T>G)
| |
| 1 | g.216418708A= | CA1220688506 | USH2A | c.486-29T= (n.486-29T=)
| |
| 1 | g.216418708A>C | CA37921751 | USH2A | c.486-29T>G (n.486-29T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216418708A>G | CA2697857773 | USH2A | c.486-29T>C (n.486-29T>C)
| dbSNP |
| 1 | g.216418709G>A | CA1396775 | USH2A | c.486-30C>T (n.486-30C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216418709G= | CA1143830667 | USH2A | c.486-30C= (n.486-30C=)
| |
| 1 | g.216418709G>T | CA1396776 | USH2A | c.486-30C>A (n.486-30C>A)
| dbSNP ExAC gnomAD v4 |
| 1 | g.216418709_216418710insAGT | CA2747740495 | USH2A | c.486-31_486-30insACT (n.486-31_486-30insACT)
| |
| 1 | g.216418710G>A | CA529004328 | USH2A | c.486-31C>T (n.486-31C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216418710G= | CA1220688512 | USH2A | c.486-31C= (n.486-31C=)
| |
| 1 | g.216418710G>T | CA2650513335 | USH2A | c.486-31C>A (n.486-31C>A)
| gnomAD v4 |
| 1 | g.216418711T>C | CA2650513336 | USH2A | c.486-32A>G (n.486-32A>G)
| gnomAD v4 |
| 1 | g.216418712C>G | CA2747740496 | USH2A | c.486-33G>C (n.486-33G>C)
| |
| 1 | g.216418713A= | CA1220688513 | USH2A | c.486-34T= (n.486-34T=)
| |
| 1 | g.216418713A>C | CA2574163801 | USH2A | c.486-34T>G (n.486-34T>G)
| |
| 1 | g.216418713A>G | CA1220688515 | USH2A | c.486-34T>C (n.486-34T>C)
| dbSNP gnomAD v4 |
| 1 | g.216418714_216418727del | CA2747740497 | USH2A | c.486-47_486-34del (n.486-47_486-34del)
| |
| 1 | g.216418714G>A | CA1396777 | USH2A | c.486-35C>T (n.486-35C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216418714G>C | CA1220688520 | USH2A | c.486-35C>G (n.486-35C>G)
| dbSNP |
| 1 | g.216418714G= | CA1220688518 | USH2A | c.486-35C= (n.486-35C=)
| |
| 1 | g.216418715C>A | CA2747740498 | USH2A | c.486-36G>T (n.486-36G>T)
| |
| 1 | g.216418715C>G | CA2650513337 | USH2A | c.486-36G>C (n.486-36G>C)
| gnomAD v4 |
| 1 | g.216418715C>T | CA2747740499 | USH2A | c.486-36G>A (n.486-36G>A)
| |
| 1 | g.216418716A= | CA1220688522 | USH2A | c.486-37T= (n.486-37T=)
| |
| 1 | g.216418716A>T | CA1220688523 | USH2A | c.486-37T>A (n.486-37T>A)
| dbSNP |
| 1 | g.216418717T>C | CA731379463 | USH2A | c.486-38A>G (n.486-38A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216418717T= | CA1220688526 | USH2A | c.486-38A= (n.486-38A=)
| |
| 1 | g.216418717_216418729del | CA2747740500 | USH2A | c.486-50_486-38del (n.486-50_486-38del)
| |
