| 1 | g.215673953_215675415del | CA1139656543 | USH2A | c.12497_13811+148del
| ClinVar |
| 1 | g.215675345T>A | CA344850625 | USH2A | c.12566A>T (p.Glu4189Val)
| |
| 1 | g.215675345T>C | CA344850626 | USH2A | c.12566A>G (p.Glu4189Gly)
| |
| 1 | g.215675345T>G | CA344850627 | USH2A | c.12566A>C (p.Glu4189Ala)
| |
| 1 | g.215675346C>A | CA344850630 | USH2A | c.12565G>T (p.Glu4189Ter)
| |
| 1 | g.215675346C>G | CA344850628 | USH2A | c.12565G>C (p.Glu4189Gln)
| |
| 1 | g.215675346C>T | CA344850629 | USH2A | c.12565G>A (p.Glu4189Lys)
| gnomAD v4 |
| 1 | g.215675347A>C | CA344850631 | USH2A | c.12564T>G (p.Tyr4188Ter)
| |
| 1 | g.215675347A>G | CA423428514 | USH2A | c.12564T>C (p.Tyr4188=)
| |
| 1 | g.215675347A>T | CA344850632 | USH2A | c.12564T>A (p.Tyr4188Ter)
| |
| 1 | g.215675348T>A | CA344850633 | USH2A | c.12563A>T (p.Tyr4188Phe)
| |
| 1 | g.215675348T>C | CA344850634 | USH2A | c.12563A>G (p.Tyr4188Cys)
| |
| 1 | g.215675348T>G | CA344850635 | USH2A | c.12563A>C (p.Tyr4188Ser)
| gnomAD v4 |
| 1 | g.215675349A>C | CA344850636 | USH2A | c.12562T>G (p.Tyr4188Asp)
| |
| 1 | g.215675349A>G | CA344850637 | USH2A | c.12562T>C (p.Tyr4188His)
| |
| 1 | g.215675349A>T | CA344850638 | USH2A | c.12562T>A (p.Tyr4188Asn)
| |
| 1 | g.215675350G>A | CA423428515 | USH2A | c.12561C>T (p.Arg4187=)
| |
| 1 | g.215675350G>C | CA423428516 | USH2A | c.12561C>G (p.Arg4187=)
| |
| 1 | g.215675350G>T | CA423428517 | USH2A | c.12561C>A (p.Arg4187=)
| |
| 1 | g.215675351C>A | CA1393451 | USH2A | c.12560G>T (p.Arg4187Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675351C= | CA1142169788 | USH2A | c.12560G= (p.Arg4187=)
| |
| 1 | g.215675351C>G | CA344850639 | USH2A | c.12560G>C (p.Arg4187Pro)
| ClinVar |
| 1 | g.215675351C>T | CA1393450 | USH2A | c.12560G>A (p.Arg4187His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675352G>A | CA1393452 | USH2A | c.12559C>T (p.Arg4187Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675352G>C | CA344850641 | USH2A | c.12559C>G (p.Arg4187Gly)
| |
| 1 | g.215675352G= | CA1220373896 | USH2A | c.12559C= (p.Arg4187=)
| |
| 1 | g.215675352G>T | CA344850640 | USH2A | c.12559C>A (p.Arg4187Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675353A= | CA1143656914 | USH2A | c.12558T= (p.Ile4186=)
| |
| 1 | g.215675353A>C | CA344850642 | USH2A | c.12558T>G (p.Ile4186Met)
| |
| 1 | g.215675353A>G | CA143294 | USH2A | c.12558T>C (p.Ile4186=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675353A>T | CA423428518 | USH2A | c.12558T>A (p.Ile4186=)
| dbSNP |
| 1 | g.215675354A= | CA1141249528 | USH2A | c.12557T= (p.Ile4186=)
| |
| 1 | g.215675354A>C | CA344850643 | USH2A | c.12557T>G (p.Ile4186Ser)
| |
| 1 | g.215675354A>G | CA143292 | USH2A | c.12557T>C (p.Ile4186Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675354A>T | CA344850644 | USH2A | c.12557T>A (p.Ile4186Asn)
| |
| 1 | g.215675355T>A | CA344850645 | USH2A | c.12556A>T (p.Ile4186Phe)
| |
| 1 | g.215675355T>C | CA344850646 | USH2A | c.12556A>G (p.Ile4186Val)
| |
| 1 | g.215675355T>G | CA344850647 | USH2A | c.12556A>C (p.Ile4186Leu)
| |
| 1 | g.215675356T>A | CA423428519 | USH2A | c.12555A>T (p.Ile4185=)
| |
| 1 | g.215675356T>C | CA344850648 | USH2A | c.12555A>G (p.Ile4185Met)
| |
| 1 | g.215675356T>G | CA423428520 | USH2A | c.12555A>C (p.Ile4185=)
| |
| 1 | g.215675357del | CA2586968175 | USH2A | c.12554del (p.Ile4185LysfsTer6)
| |
| 1 | g.215675357A= | CA1220373897 | USH2A | c.12554T= (p.Ile4185=)
| |
| 1 | g.215675357A>C | CA344850649 | USH2A | c.12554T>G (p.Ile4185Arg)
| |
| 1 | g.215675357A>G | CA344850650 | USH2A | c.12554T>C (p.Ile4185Thr)
| |
| 1 | g.215675357A>T | CA344850651 | USH2A | c.12554T>A (p.Ile4185Lys)
| ClinVar dbSNP |
| 1 | g.215675358T>A | CA344850653 | USH2A | c.12553A>T (p.Ile4185Leu)
| |
| 1 | g.215675358T>C | CA344850654 | USH2A | c.12553A>G (p.Ile4185Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675358T>G | CA344850652 | USH2A | c.12553A>C (p.Ile4185Leu)
| dbSNP |
| 1 | g.215675358T= | CA1220373898 | USH2A | c.12553A= (p.Ile4185=)
| |
| 1 | g.215675359T>A | CA344850655 | USH2A | c.12552A>T (p.Lys4184Asn)
| gnomAD v4 |
| 1 | g.215675359T>C | CA423428521 | USH2A | c.12552A>G (p.Lys4184=)
| |
| 1 | g.215675359T>G | CA344850656 | USH2A | c.12552A>C (p.Lys4184Asn)
| |
| 1 | g.215675360T>A | CA344850657 | USH2A | c.12551A>T (p.Lys4184Ile)
| COSMIC COSMIC |
| 1 | g.215675360T>C | CA344850658 | USH2A | c.12551A>G (p.Lys4184Arg)
| gnomAD v4 |
| 1 | g.215675360T>G | CA344850659 | USH2A | c.12551A>C (p.Lys4184Thr)
| |
| 1 | g.215675361T>A | CA344850662 | USH2A | c.12550A>T (p.Lys4184Ter)
| |
| 1 | g.215675361T>C | CA344850660 | USH2A | c.12550A>G (p.Lys4184Glu)
| COSMIC |
| 1 | g.215675361T>G | CA344850661 | USH2A | c.12550A>C (p.Lys4184Gln)
| |
| 1 | g.215675362T>A | CA423428522 | USH2A | c.12549A>T (p.Gly4183=)
| |
| 1 | g.215675362T>C | CA423428523 | USH2A | c.12549A>G (p.Gly4183=)
| |
| 1 | g.215675362T>G | CA423428524 | USH2A | c.12549A>C (p.Gly4183=)
| |
| 1 | g.215675363C>A | CA344850663 | USH2A | c.12548G>T (p.Gly4183Val)
| |
| 1 | g.215675363C>G | CA344850664 | USH2A | c.12548G>C (p.Gly4183Ala)
| |
| 1 | g.215675363C>T | CA344850665 | USH2A | c.12548G>A (p.Gly4183Glu)
| COSMIC COSMIC |
| 1 | g.215675364C>A | CA344850666 | USH2A | c.12547G>T (p.Gly4183Ter)
| |
| 1 | g.215675364C>G | CA344850667 | USH2A | c.12547G>C (p.Gly4183Arg)
| |
| 1 | g.215675364C>T | CA344850668 | USH2A | c.12547G>A (p.Gly4183Arg)
| |
| 1 | g.215675365A= | CA1220373899 | USH2A | c.12546T= (p.Asn4182=)
| |
| 1 | g.215675365A>C | CA344850669 | USH2A | c.12546T>G (p.Asn4182Lys)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675365A>G | CA423428525 | USH2A | c.12546T>C (p.Asn4182=)
| ClinVar dbSNP |
| 1 | g.215675365A>T | CA344850670 | USH2A | c.12546T>A (p.Asn4182Lys)
| |
| 1 | g.215675366T>A | CA344850671 | USH2A | c.12545A>T (p.Asn4182Ile)
| |
| 1 | g.215675366T>C | CA344850673 | USH2A | c.12545A>G (p.Asn4182Ser)
| |
| 1 | g.215675366T>G | CA344850672 | USH2A | c.12545A>C (p.Asn4182Thr)
| |
| 1 | g.215675367T>A | CA344850674 | USH2A | c.12544A>T (p.Asn4182Tyr)
| gnomAD v4 |
| 1 | g.215675367T>C | CA344850676 | USH2A | c.12544A>G (p.Asn4182Asp)
| |
| 1 | g.215675367T>G | CA344850675 | USH2A | c.12544A>C (p.Asn4182His)
| |
| 1 | g.215675368T>A | CA423428526 | USH2A | c.12543A>T (p.Pro4181=)
| dbSNP |
| 1 | g.215675368T>C | CA423428527 | USH2A | c.12543A>G (p.Pro4181=)
| |
| 1 | g.215675368T>G | CA423428528 | USH2A | c.12543A>C (p.Pro4181=)
| |
| 1 | g.215675369G>A | CA344850677 | USH2A | c.12542C>T (p.Pro4181Leu)
| |
| 1 | g.215675369G>C | CA344850678 | USH2A | c.12542C>G (p.Pro4181Arg)
| |
| 1 | g.215675369G>T | CA344850679 | USH2A | c.12542C>A (p.Pro4181Gln)
| gnomAD v4 |
| 1 | g.215675370G>A | CA344850680 | USH2A | c.12541C>T (p.Pro4181Ser)
| |
| 1 | g.215675370G>C | CA344850681 | USH2A | c.12541C>G (p.Pro4181Ala)
| |
| 1 | g.215675370G>T | CA344850682 | USH2A | c.12541C>A (p.Pro4181Thr)
| COSMIC COSMIC |
| 1 | g.215675371G>A | CA423428529 | USH2A | c.12540C>T (p.Asn4180=)
| ClinVar |
| 1 | g.215675371G>C | CA344850683 | USH2A | c.12540C>G (p.Asn4180Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675371G= | CA1220373900 | USH2A | c.12540C= (p.Asn4180=)
| |
| 1 | g.215675371G>T | CA344850684 | USH2A | c.12540C>A (p.Asn4180Lys)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215675372T>A | CA344850685 | USH2A | c.12539A>T (p.Asn4180Ile)
| |
| 1 | g.215675372T>C | CA344850686 | USH2A | c.12539A>G (p.Asn4180Ser)
| dbSNP |
| 1 | g.215675372T>G | CA344850687 | USH2A | c.12539A>C (p.Asn4180Thr)
| |
| 1 | g.215675372T= | CA1220373901 | USH2A | c.12539A= (p.Asn4180=)
| |
| 1 | g.215675373T>A | CA344850688 | USH2A | c.12538A>T (p.Asn4180Tyr)
| |
| 1 | g.215675373T>C | CA344850690 | USH2A | c.12538A>G (p.Asn4180Asp)
| gnomAD v4 |
| 1 | g.215675373T>G | CA344850689 | USH2A | c.12538A>C (p.Asn4180His)
| |
| 1 | g.215675374A>C | CA423428530 | USH2A | c.12537T>G (p.Val4179=)
| |
| 1 | g.215675374A>G | CA423428531 | USH2A | c.12537T>C (p.Val4179=)
| dbSNP |
| 1 | g.215675374A>T | CA423428532 | USH2A | c.12537T>A (p.Val4179=)
| |
| 1 | g.215675375A>C | CA344850691 | USH2A | c.12536T>G (p.Val4179Gly)
| |
| 1 | g.215675375A>G | CA344850692 | USH2A | c.12536T>C (p.Val4179Ala)
| |
| 1 | g.215675375A>T | CA344850693 | USH2A | c.12536T>A (p.Val4179Asp)
| |
| 1 | g.215675376C>A | CA344850694 | USH2A | c.12535G>T (p.Val4179Phe)
| |
| 1 | g.215675376C>G | CA344850695 | USH2A | c.12535G>C (p.Val4179Leu)
| |
| 1 | g.215675376C>T | CA344850696 | USH2A | c.12535G>A (p.Val4179Ile)
| |
| 1 | g.215675377A>C | CA423428533 | USH2A | c.12534T>G (p.Pro4178=)
| |
| 1 | g.215675377A>G | CA423428534 | USH2A | c.12534T>C (p.Pro4178=)
| |
| 1 | g.215675377A>T | CA423428535 | USH2A | c.12534T>A (p.Pro4178=)
| COSMIC COSMIC |
| 1 | g.215675378G>A | CA344850697 | USH2A | c.12533C>T (p.Pro4178Leu)
| |
| 1 | g.215675378G>C | CA344850698 | USH2A | c.12533C>G (p.Pro4178Arg)
| |
| 1 | g.215675378G>T | CA344850699 | USH2A | c.12533C>A (p.Pro4178His)
| |
| 1 | g.215675379G>A | CA344850701 | USH2A | c.12532C>T (p.Pro4178Ser)
| |
| 1 | g.215675379G>C | CA344850702 | USH2A | c.12532C>G (p.Pro4178Ala)
| COSMIC COSMIC |
| 1 | g.215675379G>T | CA344850700 | USH2A | c.12532C>A (p.Pro4178Thr)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215675385_215675394del | CA2573131593 | USH2A | c.12523_12532del (p.Trp4175LeufsTer8)
| ClinVar dbSNP |
| 1 | g.215675380C>A | CA344850703 | USH2A | c.12531G>T (p.Glu4177Asp)
| |
| 1 | g.215675380C= | CA1220373902 | USH2A | c.12531G= (p.Glu4177=)
| |
| 1 | g.215675380C>G | CA344850704 | USH2A | c.12531G>C (p.Glu4177Asp)
| |
| 1 | g.215675380C>T | CA423428536 | USH2A | c.12531G>A (p.Glu4177=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675381T>A | CA344850705 | USH2A | c.12530A>T (p.Glu4177Val)
| |
| 1 | g.215675381T>C | CA344850706 | USH2A | c.12530A>G (p.Glu4177Gly)
| |
| 1 | g.215675381T>G | CA344850707 | USH2A | c.12530A>C (p.Glu4177Ala)
| |
| 1 | g.215675381dup | CA2511248761 | USH2A | c.12530dup (p.Pro4178AlafsTer3)
| |
| 1 | g.215675382C>A | CA344850708 | USH2A | c.12529G>T (p.Glu4177Ter)
| |
| 1 | g.215675382C>G | CA344850709 | USH2A | c.12529G>C (p.Glu4177Gln)
| |
| 1 | g.215675382C>T | CA344850710 | USH2A | c.12529G>A (p.Glu4177Lys)
| |
| 1 | g.215675383A>C | CA423428537 | USH2A | c.12528T>G (p.Ser4176=)
| |
| 1 | g.215675383A>G | CA423428538 | USH2A | c.12528T>C (p.Ser4176=)
| |
| 1 | g.215675383A>T | CA423428539 | USH2A | c.12528T>A (p.Ser4176=)
| |
| 1 | g.215675384del | CA2541150355 | USH2A | c.12527del (p.Ser4176LeufsTer10)
| |
| 1 | g.215675384G>A | CA344850711 | USH2A | c.12527C>T (p.Ser4176Phe)
| |
| 1 | g.215675384G>C | CA344850712 | USH2A | c.12527C>G (p.Ser4176Cys)
| |
| 1 | g.215675384G>T | CA344850713 | USH2A | c.12527C>A (p.Ser4176Tyr)
| COSMIC COSMIC |
| 1 | g.215675385A= | CA1220373903 | USH2A | c.12526T= (p.Ser4176=)
| |
| 1 | g.215675385A>C | CA344850715 | USH2A | c.12526T>G (p.Ser4176Ala)
| |
| 1 | g.215675385A>G | CA344850716 | USH2A | c.12526T>C (p.Ser4176Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675385A>T | CA344850714 | USH2A | c.12526T>A (p.Ser4176Thr)
| |
| 1 | g.215675386C>A | CA344850717 | USH2A | c.12525G>T (p.Trp4175Cys)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675386C= | CA1220373904 | USH2A | c.12525G= (p.Trp4175=)
| |
| 1 | g.215675386C>G | CA344850718 | USH2A | c.12525G>C (p.Trp4175Cys)
| ClinVar dbSNP |
| 1 | g.215675386C>T | CA344850719 | USH2A | c.12525G>A (p.Trp4175Ter)
| ClinVar dbSNP |
| 1 | g.215675387C>A | CA344850720 | USH2A | c.12524G>T (p.Trp4175Leu)
| |
| 1 | g.215675387C>G | CA344850721 | USH2A | c.12524G>C (p.Trp4175Ser)
| |
| 1 | g.215675387C>T | CA344850722 | USH2A | c.12524G>A (p.Trp4175Ter)
| |
| 1 | g.215675394_215675398dup | CA529002030 | USH2A | c.12520_12524dup (p.Trp4175Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675388A= | CA1220373905 | USH2A | c.12523T= (p.Trp4175=)
| |
| 1 | g.215675388A>C | CA344850723 | USH2A | c.12523T>G (p.Trp4175Gly)
| |
| 1 | g.215675388A>G | CA344850725 | USH2A | c.12523T>C (p.Trp4175Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675388A>T | CA344850724 | USH2A | c.12523T>A (p.Trp4175Arg)
| |
| 1 | g.215675389G>A | CA423428540 | USH2A | c.12522C>T (p.Ser4174=)
| ClinVar dbSNP |
| 1 | g.215675389G>C | CA1393453 | USH2A | c.12522C>G (p.Ser4174Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675389G= | CA1220373906 | USH2A | c.12522C= (p.Ser4174=)
| |
| 1 | g.215675389G>T | CA344850726 | USH2A | c.12522C>A (p.Ser4174Arg)
| COSMIC |
| 1 | g.215675390C>A | CA344850727 | USH2A | c.12521G>T (p.Ser4174Ile)
| |
| 1 | g.215675390C>G | CA344850728 | USH2A | c.12521G>C (p.Ser4174Thr)
| |
| 1 | g.215675390C>T | CA344850729 | USH2A | c.12521G>A (p.Ser4174Asn)
| |
| 1 | g.215675391T>A | CA344850731 | USH2A | c.12520A>T (p.Ser4174Cys)
| |
| 1 | g.215675391T>C | CA344850732 | USH2A | c.12520A>G (p.Ser4174Gly)
| |
| 1 | g.215675391T>G | CA344850730 | USH2A | c.12520A>C (p.Ser4174Arg)
| |
| 1 | g.215675392C>A | CA423428541 | USH2A | c.12519G>T (p.Leu4173=)
| |
| 1 | g.215675392C>G | CA423428542 | USH2A | c.12519G>C (p.Leu4173=)
| ClinVar |
| 1 | g.215675392C>T | CA423428543 | USH2A | c.12519G>A (p.Leu4173=)
| |
| 1 | g.215675393A>C | CA344850735 | USH2A | c.12518T>G (p.Leu4173Arg)
| |
| 1 | g.215675393A>G | CA344850733 | USH2A | c.12518T>C (p.Leu4173Pro)
| |
| 1 | g.215675393A>T | CA344850734 | USH2A | c.12518T>A (p.Leu4173Gln)
| COSMIC |
| 1 | g.215675394G>A | CA423311290 | USH2A | c.12517C>T (p.Leu4173=)
| |
| 1 | g.215675394G>C | CA344850736 | USH2A | c.12517C>G (p.Leu4173Val)
| |
| 1 | g.215675394G>T | CA344850737 | USH2A | c.12517C>A (p.Leu4173Met)
| |
| 1 | g.215675395C>A | CA344850738 | USH2A | c.12516G>T (p.Glu4172Asp)
| |
| 1 | g.215675395C>G | CA344850739 | USH2A | c.12516G>C (p.Glu4172Asp)
| gnomAD v4 |
| 1 | g.215675395C>T | CA423311294 | USH2A | c.12516G>A (p.Glu4172=)
| |
| 1 | g.215675396T>A | CA344850740 | USH2A | c.12515A>T (p.Glu4172Val)
| |
| 1 | g.215675396T>C | CA344850741 | USH2A | c.12515A>G (p.Glu4172Gly)
| |
| 1 | g.215675396T>G | CA344850742 | USH2A | c.12515A>C (p.Glu4172Ala)
| |
| 1 | g.215675397C>A | CA344850743 | USH2A | c.12514G>T (p.Glu4172Ter)
| |
| 1 | g.215675397C= | CA1220373907 | USH2A | c.12514G= (p.Glu4172=)
| |
| 1 | g.215675397C>G | CA344850744 | USH2A | c.12514G>C (p.Glu4172Gln)
| |
| 1 | g.215675397C>T | CA1393454 | USH2A | c.12514G>A (p.Glu4172Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675398A= | CA1220373908 | USH2A | c.12513T= (p.Val4171=)
| |
| 1 | g.215675398A>C | CA423311303 | USH2A | c.12513T>G (p.Val4171=)
| |
| 1 | g.215675398A>G | CA423311305 | USH2A | c.12513T>C (p.Val4171=)
| |
| 1 | g.215675398A>T | CA1393455 | USH2A | c.12513T>A (p.Val4171=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675399A>C | CA344850747 | USH2A | c.12512T>G (p.Val4171Gly)
| |
| 1 | g.215675399A>G | CA344850745 | USH2A | c.12512T>C (p.Val4171Ala)
| |
| 1 | g.215675399A>T | CA344850746 | USH2A | c.12512T>A (p.Val4171Asp)
| |
| 1 | g.215675400C>A | CA344850748 | USH2A | c.12511G>T (p.Val4171Phe)
| |
| 1 | g.215675400C>G | CA344850749 | USH2A | c.12511G>C (p.Val4171Leu)
| |
| 1 | g.215675400C>T | CA344850750 | USH2A | c.12511G>A (p.Val4171Ile)
| |
| 1 | g.215675401A= | CA1220373909 | USH2A | c.12510T= (p.Ser4170=)
| |
| 1 | g.215675401A>C | CA1393456 | USH2A | c.12510T>G (p.Ser4170Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675401A>G | CA423311317 | USH2A | c.12510T>C (p.Ser4170=)
| ClinVar |
| 1 | g.215675401A>T | CA344850751 | USH2A | c.12510T>A (p.Ser4170Arg)
| |
| 1 | g.215675402C>A | CA344850752 | USH2A | c.12509G>T (p.Ser4170Ile)
| |
| 1 | g.215675402C= | CA1220373910 | USH2A | c.12509G= (p.Ser4170=)
| |
| 1 | g.215675402C>G | CA344850753 | USH2A | c.12509G>C (p.Ser4170Thr)
| dbSNP |
| 1 | g.215675402C>T | CA344850754 | USH2A | c.12509G>A (p.Ser4170Asn)
| ClinVar |
| 1 | g.215675403T>A | CA344850755 | USH2A | c.12508A>T (p.Ser4170Cys)
| |
| 1 | g.215675403T>C | CA344850756 | USH2A | c.12508A>G (p.Ser4170Gly)
| |
| 1 | g.215675403T>G | CA344850757 | USH2A | c.12508A>C (p.Ser4170Arg)
| |
| 1 | g.215675404G>A | CA37413133 | USH2A | c.12507C>T (p.Thr4169=)
| ClinVar dbSNP |
| 1 | g.215675404G>C | CA423311327 | USH2A | c.12507C>G (p.Thr4169=)
| |
| 1 | g.215675404G= | CA1220373911 | USH2A | c.12507C= (p.Thr4169=)
| |
| 1 | g.215675404G>T | CA423311329 | USH2A | c.12507C>A (p.Thr4169=)
| |
| 1 | g.215675405G>A | CA344850760 | USH2A | c.12506C>T (p.Thr4169Ile)
| gnomAD v4 |
| 1 | g.215675405G>C | CA344850759 | USH2A | c.12506C>G (p.Thr4169Ser)
| |
| 1 | g.215675405G>T | CA344850758 | USH2A | c.12506C>A (p.Thr4169Asn)
| gnomAD v4 |
| 1 | g.215675406_215675407del | CA2695199974 | USH2A | c.12505_12506del (p.Thr4169GlnfsTer3)
| ClinVar |
| 1 | g.215675406T>A | CA344850761 | USH2A | c.12505A>T (p.Thr4169Ser)
| |
| 1 | g.215675406T>C | CA179513 | USH2A | c.12505A>G (p.Thr4169Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675406T>G | CA344850762 | USH2A | c.12505A>C (p.Thr4169Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675406T= | CA1141314997 | USH2A | c.12505A= (p.Thr4169=)
| |
| 1 | g.215675407G>A | CA423311338 | USH2A | c.12504C>T (p.Ser4168=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675407G>C | CA423311340 | USH2A | c.12504C>G (p.Ser4168=)
| |
| 1 | g.215675407G>T | CA423311342 | USH2A | c.12504C>A (p.Ser4168=)
| |
| 1 | g.215675408G>A | CA344850763 | USH2A | c.12503C>T (p.Ser4168Phe)
| |
| 1 | g.215675408G>C | CA344850764 | USH2A | c.12503C>G (p.Ser4168Cys)
| |
| 1 | g.215675408G>T | CA344850765 | USH2A | c.12503C>A (p.Ser4168Tyr)
| |
| 1 | g.215675409A>C | CA344850768 | USH2A | c.12502T>G (p.Ser4168Ala)
| |
| 1 | g.215675409A>G | CA344850766 | USH2A | c.12502T>C (p.Ser4168Pro)
| gnomAD v4 |
| 1 | g.215675409A>T | CA344850767 | USH2A | c.12502T>A (p.Ser4168Thr)
| ClinVar dbSNP |
| 1 | g.215675410C>A | CA344850769 | USH2A | c.12501G>T (p.Lys4167Asn)
| dbSNP gnomAD v4 |
| 1 | g.215675410C= | CA1220373912 | USH2A | c.12501G= (p.Lys4167=)
| |
| 1 | g.215675410C>G | CA344850770 | USH2A | c.12501G>C (p.Lys4167Asn)
| |
| 1 | g.215675410C>T | CA423311351 | USH2A | c.12501G>A (p.Lys4167=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675411T>A | CA344850771 | USH2A | c.12500A>T (p.Lys4167Met)
| |
| 1 | g.215675411T>C | CA344850772 | USH2A | c.12500A>G (p.Lys4167Arg)
| |
| 1 | g.215675411T>G | CA344850773 | USH2A | c.12500A>C (p.Lys4167Thr)
| |
| 1 | g.215675412T>A | CA344850774 | USH2A | c.12499A>T (p.Lys4167Ter)
| |
| 1 | g.215675412T>C | CA344850776 | USH2A | c.12499A>G (p.Lys4167Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675412T>G | CA344850775 | USH2A | c.12499A>C (p.Lys4167Gln)
| |
| 1 | g.215675412T= | CA1220373913 | USH2A | c.12499A= (p.Lys4167=)
| |
| 1 | g.215675413C>A | CA423311363 | USH2A | c.12498G>T (p.Val4166=)
| |
| 1 | g.215675413C>G | CA423311364 | USH2A | c.12498G>C (p.Val4166=)
| |
| 1 | g.215675413C>T | CA423311366 | USH2A | c.12498G>A (p.Val4166=)
| |
| 1 | g.215675414A= | CA1143922967 | USH2A | c.12497T= (p.Val4166=)
| |
| 1 | g.215675414A>C | CA344850777 | USH2A | c.12497T>G (p.Val4166Gly)
| |
| 1 | g.215675414A>G | CA37413137 | USH2A | c.12497T>C (p.Val4166Ala)
| dbSNP |
| 1 | g.215675414A>T | CA344850778 | USH2A | c.12497T>A (p.Val4166Glu)
| |
| 1 | g.215675415C>A | CA344850779 | USH2A | c.12496G>T (p.Val4166Leu)
| |
| 1 | g.215675415C= | CA1148334050 | USH2A | c.12496G= (p.Val4166=)
| |
| 1 | g.215675415C>G | CA344850780 | USH2A | c.12496G>C (p.Val4166Leu)
| |
| 1 | g.215675415C>T | CA1393457 | USH2A | c.12496G>A (p.Val4166Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675416A= | CA1220373914 | USH2A | c.12495T= (p.Ser4165=)
| |
| 1 | g.215675416A>C | CA423311383 | USH2A | c.12495T>G (p.Ser4165=)
| |
| 1 | g.215675416A>G | CA423311381 | USH2A | c.12495T>C (p.Ser4165=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675416A>T | CA423311378 | USH2A | c.12495T>A (p.Ser4165=)
| |
| 1 | g.215675416dup | CA2586968179 | USH2A | c.12495dup (p.Val4166CysfsTer7)
| |
| 1 | g.215675417G>A | CA344850781 | USH2A | c.12494C>T (p.Ser4165Phe)
| gnomAD v4 |
| 1 | g.215675417G>C | CA344850782 | USH2A | c.12494C>G (p.Ser4165Cys)
| |
| 1 | g.215675417G>T | CA344850783 | USH2A | c.12494C>A (p.Ser4165Tyr)
| |
| 1 | g.215675418A= | CA1220373915 | USH2A | c.12493T= (p.Ser4165=)
| |
| 1 | g.215675418A>C | CA37413145 | USH2A | c.12493T>G (p.Ser4165Ala)
| dbSNP gnomAD v4 |
| 1 | g.215675418A>G | CA344850784 | USH2A | c.12493T>C (p.Ser4165Pro)
| |
| 1 | g.215675418A>T | CA344850785 | USH2A | c.12493T>A (p.Ser4165Thr)
| |
| 1 | g.215675419G>A | CA423311392 | USH2A | c.12492C>T (p.His4164=)
| ClinVar gnomAD v4 |
| 1 | g.215675419G>C | CA344850787 | USH2A | c.12492C>G (p.His4164Gln)
| |
| 1 | g.215675419G>T | CA344850786 | USH2A | c.12492C>A (p.His4164Gln)
| |
| 1 | g.215675420T>A | CA344850788 | USH2A | c.12491A>T (p.His4164Leu)
| |
| 1 | g.215675420T>C | CA344850790 | USH2A | c.12491A>G (p.His4164Arg)
| gnomAD v4 |
| 1 | g.215675420T>G | CA344850789 | USH2A | c.12491A>C (p.His4164Pro)
| |
| 1 | g.215675420_215675421delinsTG | CA1220373916 | USH2A | c.12490_12491delinsCA (p.His4164=)
| |
| 1 | g.215675421G>A | CA344850791 | USH2A | c.12490C>T (p.His4164Tyr)
| COSMIC |
| 1 | g.215675421G>C | CA344850793 | USH2A | c.12490C>G (p.His4164Asp)
| |
| 1 | g.215675421G>T | CA344850792 | USH2A | c.12490C>A (p.His4164Asn)
| |
| 1 | g.215675422del | CA529002107 | USH2A | c.12490del (p.His4164ThrfsTer3)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675422G>A | CA423311402 | USH2A | c.12489C>T (p.Val4163=)
| |
| 1 | g.215675422G>C | CA423311404 | USH2A | c.12489C>G (p.Val4163=)
| |
| 1 | g.215675422G>T | CA423311403 | USH2A | c.12489C>A (p.Val4163=)
| ClinVar gnomAD v4 |
| 1 | g.215675423A>C | CA344850794 | USH2A | c.12488T>G (p.Val4163Gly)
| |
| 1 | g.215675423A>G | CA344850796 | USH2A | c.12488T>C (p.Val4163Ala)
| gnomAD v4 |
| 1 | g.215675423A>T | CA344850795 | USH2A | c.12488T>A (p.Val4163Asp)
| |
| 1 | g.215675424C>A | CA344850797 | USH2A | c.12487G>T (p.Val4163Phe)
| |
| 1 | g.215675424C= | CA1142053844 | USH2A | c.12487G= (p.Val4163=)
| |
| 1 | g.215675424C>G | CA344850798 | USH2A | c.12487G>C (p.Val4163Leu)
| dbSNP gnomAD v4 |
| 1 | g.215675424C>T | CA37413147 | USH2A | c.12487G>A (p.Val4163Ile)
| dbSNP |
| 1 | g.215675425A>C | CA423311405 | USH2A | c.12486T>G (p.Thr4162=)
| |
| 1 | g.215675425A>G | CA423311406 | USH2A | c.12486T>C (p.Thr4162=)
| |
| 1 | g.215675425A>T | CA423311408 | USH2A | c.12486T>A (p.Thr4162=)
| |
| 1 | g.215675426G>A | CA344850799 | USH2A | c.12485C>T (p.Thr4162Ile)
| |
| 1 | g.215675426G>C | CA344850800 | USH2A | c.12485C>G (p.Thr4162Ser)
| |
| 1 | g.215675426G= | CA1220373917 | USH2A | c.12485C= (p.Thr4162=)
| |
| 1 | g.215675426G>T | CA344850801 | USH2A | c.12485C>A (p.Thr4162Asn)
| dbSNP |
| 1 | g.215675427T>A | CA344850804 | USH2A | c.12484A>T (p.Thr4162Ser)
| |
| 1 | g.215675427T>C | CA344850803 | USH2A | c.12484A>G (p.Thr4162Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675427T>G | CA344850802 | USH2A | c.12484A>C (p.Thr4162Pro)
| gnomAD v4 |
| 1 | g.215675427T= | CA1220373918 | USH2A | c.12484A= (p.Thr4162=)
| |
| 1 | g.215675428A>C | CA423311417 | USH2A | c.12483T>G (p.Pro4161=)
| |
| 1 | g.215675428A>G | CA423311419 | USH2A | c.12483T>C (p.Pro4161=)
| |
| 1 | g.215675428A>T | CA423311421 | USH2A | c.12483T>A (p.Pro4161=)
| ClinVar dbSNP |
| 1 | g.215675429G>A | CA344850805 | USH2A | c.12482C>T (p.Pro4161Leu)
| ClinVar gnomAD v4 |
| 1 | g.215675429G>C | CA344850806 | USH2A | c.12482C>G (p.Pro4161Arg)
| |
| 1 | g.215675429G>T | CA344850807 | USH2A | c.12482C>A (p.Pro4161His)
| |
| 1 | g.215675430G>A | CA344850808 | USH2A | c.12481C>T (p.Pro4161Ser)
| |
| 1 | g.215675430G>C | CA344850809 | USH2A | c.12481C>G (p.Pro4161Ala)
| gnomAD v4 |
| 1 | g.215675430G>T | CA344850810 | USH2A | c.12481C>A (p.Pro4161Thr)
| |
| 1 | g.215675431A>C | CA423311431 | USH2A | c.12480T>G (p.Ala4160=)
| |
| 1 | g.215675431A>G | CA423311432 | USH2A | c.12480T>C (p.Ala4160=)
| |
| 1 | g.215675431A>T | CA423311434 | USH2A | c.12480T>A (p.Ala4160=)
| |
| 1 | g.215675432G>A | CA1393458 | USH2A | c.12479C>T (p.Ala4160Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675432G>C | CA344850811 | USH2A | c.12479C>G (p.Ala4160Gly)
| |
| 1 | g.215675432G= | CA1220373919 | USH2A | c.12479C= (p.Ala4160=)
| |
| 1 | g.215675432G>T | CA344850812 | USH2A | c.12479C>A (p.Ala4160Asp)
| dbSNP |
| 1 | g.215675433C>A | CA344850813 | USH2A | c.12478G>T (p.Ala4160Ser)
| gnomAD v4 |
| 1 | g.215675433C>G | CA344850814 | USH2A | c.12478G>C (p.Ala4160Pro)
| |
| 1 | g.215675433C>T | CA344850815 | USH2A | c.12478G>A (p.Ala4160Thr)
| gnomAD v4 |
| 1 | g.215675434C>A | CA423311442 | USH2A | c.12477G>T (p.Leu4159=)
| |
| 1 | g.215675434C>G | CA423311444 | USH2A | c.12477G>C (p.Leu4159=)
| |
| 1 | g.215675434C>T | CA423311445 | USH2A | c.12477G>A (p.Leu4159=)
| |
| 1 | g.215675435A>C | CA344850816 | USH2A | c.12476T>G (p.Leu4159Arg)
| gnomAD v4 |
| 1 | g.215675435A>G | CA344850817 | USH2A | c.12476T>C (p.Leu4159Pro)
| |
| 1 | g.215675435A>T | CA344850818 | USH2A | c.12476T>A (p.Leu4159Gln)
| |
| 1 | g.215675436G>A | CA423311449 | USH2A | c.12475C>T (p.Leu4159=)
| |
| 1 | g.215675436G>C | CA344850819 | USH2A | c.12475C>G (p.Leu4159Val)
| |
| 1 | g.215675436G= | CA1220373920 | USH2A | c.12475C= (p.Leu4159=)
| |
| 1 | g.215675436G>T | CA344850820 | USH2A | c.12475C>A (p.Leu4159Met)
| |
| 1 | g.215675437C>A | CA344850821 | USH2A | c.12474G>T (p.Gln4158His)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675437C= | CA1220373921 | USH2A | c.12474G= (p.Gln4158=)
| |
| 1 | g.215675437C>G | CA344850822 | USH2A | c.12474G>C (p.Gln4158His)
| |
| 1 | g.215675437C>T | CA423311453 | USH2A | c.12474G>A (p.Gln4158=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675438_215675439insTTTTCT | CA529002108 | USH2A | c.12474_12475insAAAAAG (p.Gln4158_Leu4159insLysLys)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675438T>A | CA1393459 | USH2A | c.12473A>T (p.Gln4158Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675438T>C | CA344850823 | USH2A | c.12473A>G (p.Gln4158Arg)
| |
| 1 | g.215675438T>G | CA344850824 | USH2A | c.12473A>C (p.Gln4158Pro)
| |
| 1 | g.215675438T= | CA1220373922 | USH2A | c.12473A= (p.Gln4158=)
| |
| 1 | g.215675439G>A | CA344850825 | USH2A | c.12472C>T (p.Gln4158Ter)
| ClinVar dbSNP |
| 1 | g.215675439G>C | CA344850827 | USH2A | c.12472C>G (p.Gln4158Glu)
| |
| 1 | g.215675439G>T | CA344850826 | USH2A | c.12472C>A (p.Gln4158Lys)
| |
| 1 | g.215675442_215675443del | CA2695199975 | USH2A | c.12471_12472del (p.Gln4158AlafsTer14)
| ClinVar |
| 1 | g.215675440A= | CA1220373923 | USH2A | c.12471T= (p.Ser4157=)
| |
| 1 | g.215675440A>C | CA423311455 | USH2A | c.12471T>G (p.Ser4157=)
| |
| 1 | g.215675440A>G | CA423311456 | USH2A | c.12471T>C (p.Ser4157=)
| ClinVar |
| 1 | g.215675440A>T | CA423311457 | USH2A | c.12471T>A (p.Ser4157=)
| |
| 1 | g.215675440_215675441insTGGGTGCCTTGGGGCCGT | CA529002109 | USH2A | c.12470_12471insACGGCCCCAAGGCACCCA (p.Ser4157_Gln4158insArgProGlnGlyThrHis)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675441G>A | CA344850828 | USH2A | c.12470C>T (p.Ser4157Phe)
| |
| 1 | g.215675441G>C | CA344850829 | USH2A | c.12470C>G (p.Ser4157Cys)
| |
| 1 | g.215675441G= | CA1220373924 | USH2A | c.12470C= (p.Ser4157=)
| |
| 1 | g.215675441G>T | CA344850830 | USH2A | c.12470C>A (p.Ser4157Tyr)
| |
| 1 | g.215675442A>C | CA344850831 | USH2A | c.12469T>G (p.Ser4157Ala)
| gnomAD v4 |
| 1 | g.215675442A>G | CA344850832 | USH2A | c.12469T>C (p.Ser4157Pro)
| |
| 1 | g.215675442A>T | CA344850833 | USH2A | c.12469T>A (p.Ser4157Thr)
| gnomAD v4 |
| 1 | g.215675442dup | CA1393460 | USH2A | c.12469dup (p.Ser4157PhefsTer16)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675442_215675443delinsAG | CA1220373925 | USH2A | c.12468_12469delinsCT (p.Asp4156=)
| |
| 1 | g.215675443del | CA529002110 | USH2A | c.12468del (p.Ser4157LeufsTer10)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675443G>A | CA423311465 | USH2A | c.12468C>T (p.Asp4156=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675443G>C | CA344850834 | USH2A | c.12468C>G (p.Asp4156Glu)
| |
| 1 | g.215675443G= | CA1220373926 | USH2A | c.12468C= (p.Asp4156=)
| |
| 1 | g.215675443G>T | CA344850835 | USH2A | c.12468C>A (p.Asp4156Glu)
| |
| 1 | g.215675444T>A | CA344850836 | USH2A | c.12467A>T (p.Asp4156Val)
| |
| 1 | g.215675444T>C | CA344850837 | USH2A | c.12467A>G (p.Asp4156Gly)
| gnomAD v3 gnomAD v4 |
| 1 | g.215675444T>G | CA344850838 | USH2A | c.12467A>C (p.Asp4156Ala)
| |
| 1 | g.215675445C>A | CA344850840 | USH2A | c.12466G>T (p.Asp4156Tyr)
| |
| 1 | g.215675445C= | CA1220373927 | USH2A | c.12466G= (p.Asp4156=)
| |
| 1 | g.215675445C>G | CA344850841 | USH2A | c.12466G>C (p.Asp4156His)
| |
| 1 | g.215675445C>T | CA344850839 | USH2A | c.12466G>A (p.Asp4156Asn)
| dbSNP gnomAD v2 gnomAD v4 |
