| 1 | g.215817031A= | CA1220434308 | USH2A | c.9536T= (p.Ile3179=)
| |
| 1 | g.215817031A>C | CA344824231 | USH2A | c.9536T>G (p.Ile3179Ser)
| dbSNP |
| 1 | g.215817031A>G | CA1394297 | USH2A | c.9536T>C (p.Ile3179Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817031A>T | CA344824234 | USH2A | c.9536T>A (p.Ile3179Asn)
| |
| 1 | g.215817032T>A | CA344824239 | USH2A | c.9535A>T (p.Ile3179Phe)
| |
| 1 | g.215817032T>C | CA344824243 | USH2A | c.9535A>G (p.Ile3179Val)
| |
| 1 | g.215817032T>G | CA344824236 | USH2A | c.9535A>C (p.Ile3179Leu)
| |
| 1 | g.215817033A>C | CA423308650 | USH2A | c.9534T>G (p.Ser3178=)
| |
| 1 | g.215817033A>G | CA423308652 | USH2A | c.9534T>C (p.Ser3178=)
| ClinVar |
| 1 | g.215817033A>T | CA423308654 | USH2A | c.9534T>A (p.Ser3178=)
| |
| 1 | g.215817034G>A | CA344824252 | USH2A | c.9533C>T (p.Ser3178Phe)
| |
| 1 | g.215817034G>C | CA344824254 | USH2A | c.9533C>G (p.Ser3178Cys)
| |
| 1 | g.215817034G= | CA1220434309 | USH2A | c.9533C= (p.Ser3178=)
| |
| 1 | g.215817034G>T | CA37428000 | USH2A | c.9533C>A (p.Ser3178Tyr)
| dbSNP COSMIC COSMIC |
| 1 | g.215817035A>C | CA344824255 | USH2A | c.9532T>G (p.Ser3178Ala)
| |
| 1 | g.215817035A>G | CA344824261 | USH2A | c.9532T>C (p.Ser3178Pro)
| COSMIC |
| 1 | g.215817035A>T | CA344824265 | USH2A | c.9532T>A (p.Ser3178Thr)
| |
| 1 | g.215817036T>A | CA1394298 | USH2A | c.9531A>T (p.Glu3177Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817036T>C | CA423308658 | USH2A | c.9531A>G (p.Glu3177=)
| gnomAD v4 |
| 1 | g.215817036T>G | CA344824272 | USH2A | c.9531A>C (p.Glu3177Asp)
| |
| 1 | g.215817036T= | CA1146265289 | USH2A | c.9531A= (p.Glu3177=)
| |
| 1 | g.215817037T>A | CA344824276 | USH2A | c.9530A>T (p.Glu3177Val)
| |
| 1 | g.215817037T>C | CA344824283 | USH2A | c.9530A>G (p.Glu3177Gly)
| |
| 1 | g.215817037T>G | CA344824287 | USH2A | c.9530A>C (p.Glu3177Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817037T= | CA1220434310 | USH2A | c.9530A= (p.Glu3177=)
| |
| 1 | g.215817037_215817040del | CA913072774 | USH2A | c.9527_9530del (p.Pro3176HisfsTer?)
| |
| 1 | g.215817037_215817040delinsTCAG | CA1220434311 | USH2A | c.9527_9530delinsCTGA (p.Pro3176=)
| |
| 1 | g.215817038C>A | CA344824299 | USH2A | c.9529G>T (p.Glu3177Ter)
| |
| 1 | g.215817038C>G | CA344824295 | USH2A | c.9529G>C (p.Glu3177Gln)
| |
| 1 | g.215817038C>T | CA344824292 | USH2A | c.9529G>A (p.Glu3177Lys)
| |
| 1 | g.215817038_215817040del | CA658822036 | USH2A | c.9527_9529del (p.Pro3176_Glu3177delinsGln)
| ClinVar dbSNP |
| 1 | g.215817039A= | CA1220434312 | USH2A | c.9528T= (p.Pro3176=)
| |
| 1 | g.215817039A>C | CA1394299 | USH2A | c.9528T>G (p.Pro3176=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817039A>G | CA423308669 | USH2A | c.9528T>C (p.Pro3176=)
| |
| 1 | g.215817039A>T | CA423308671 | USH2A | c.9528T>A (p.Pro3176=)
| |
| 1 | g.215817040G>A | CA344824325 | USH2A | c.9527C>T (p.Pro3176Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817040G>C | CA344824330 | USH2A | c.9527C>G (p.Pro3176Arg)
| |
| 1 | g.215817040G= | CA1220434313 | USH2A | c.9527C= (p.Pro3176=)
| |
| 1 | g.215817040G>T | CA344824335 | USH2A | c.9527C>A (p.Pro3176His)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215817041G>A | CA344824343 | USH2A | c.9526C>T (p.Pro3176Ser)
| |
| 1 | g.215817041G>C | CA344824350 | USH2A | c.9526C>G (p.Pro3176Ala)
| COSMIC COSMIC |
| 1 | g.215817041G>T | CA344824354 | USH2A | c.9526C>A (p.Pro3176Thr)
| |
| 1 | g.215817042T>A | CA344824358 | USH2A | c.9525A>T (p.Lys3175Asn)
| |
| 1 | g.215817042T>C | CA423308679 | USH2A | c.9525A>G (p.Lys3175=)
| |
| 1 | g.215817042T>G | CA344824361 | USH2A | c.9525A>C (p.Lys3175Asn)
| |
| 1 | g.215817043T>A | CA344824365 | USH2A | c.9524A>T (p.Lys3175Ile)
| |
| 1 | g.215817043T>C | CA344824369 | USH2A | c.9524A>G (p.Lys3175Arg)
| |
| 1 | g.215817043T>G | CA344824373 | USH2A | c.9524A>C (p.Lys3175Thr)
| gnomAD v4 |
| 1 | g.215817044T>A | CA344824379 | USH2A | c.9523A>T (p.Lys3175Ter)
| |
| 1 | g.215817044T>C | CA344824382 | USH2A | c.9523A>G (p.Lys3175Glu)
| |
| 1 | g.215817044T>G | CA344824377 | USH2A | c.9523A>C (p.Lys3175Gln)
| |
| 1 | g.215817045T>A | CA344824387 | USH2A | c.9522A>T (p.Gln3174His)
| |
| 1 | g.215817045T>C | CA423308687 | USH2A | c.9522A>G (p.Gln3174=)
| |
| 1 | g.215817045T>G | CA344824383 | USH2A | c.9522A>C (p.Gln3174His)
| |
| 1 | g.215817046T>A | CA344824389 | USH2A | c.9521A>T (p.Gln3174Leu)
| |
| 1 | g.215817046T>C | CA344824392 | USH2A | c.9521A>G (p.Gln3174Arg)
| |
| 1 | g.215817046T>G | CA344824397 | USH2A | c.9521A>C (p.Gln3174Pro)
| |
| 1 | g.215817047G>A | CA344824404 | USH2A | c.9520C>T (p.Gln3174Ter)
| |
| 1 | g.215817047G>C | CA344824412 | USH2A | c.9520C>G (p.Gln3174Glu)
| |
| 1 | g.215817047G>T | CA344824413 | USH2A | c.9520C>A (p.Gln3174Lys)
| gnomAD v4 |
| 1 | g.215817047_215817048delinsTT | CA2573051480 | USH2A | c.9519_9520delinsAA (p.Cys3173Ter)
| ClinVar dbSNP |
| 1 | g.215817048A= | CA1220434314 | USH2A | c.9519T= (p.Cys3173=)
| |
| 1 | g.215817048A>C | CA344824417 | USH2A | c.9519T>G (p.Cys3173Trp)
| |
| 1 | g.215817048A>G | CA423308698 | USH2A | c.9519T>C (p.Cys3173=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817048A>T | CA344824419 | USH2A | c.9519T>A (p.Cys3173Ter)
| gnomAD v4 |
| 1 | g.215817050_215817051del | CA2580611545 | USH2A | c.9518_9519del (p.Cys3173SerfsTer4)
| ClinVar |
| 1 | g.215817049C>A | CA344824423 | USH2A | c.9518G>T (p.Cys3173Phe)
| gnomAD v4 |
| 1 | g.215817049C= | CA1220434315 | USH2A | c.9518G= (p.Cys3173=)
| |
| 1 | g.215817049C>G | CA344824427 | USH2A | c.9518G>C (p.Cys3173Ser)
| |
| 1 | g.215817049C>T | CA344824433 | USH2A | c.9518G>A (p.Cys3173Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817050A>C | CA344824446 | USH2A | c.9517T>G (p.Cys3173Gly)
| |
| 1 | g.215817050A>G | CA344824449 | USH2A | c.9517T>C (p.Cys3173Arg)
| |
| 1 | g.215817050A>T | CA344824442 | USH2A | c.9517T>A (p.Cys3173Ser)
| |
| 1 | g.215817051C>A | CA344824454 | USH2A | c.9516G>T (p.Arg3172Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817051C= | CA1220434316 | USH2A | c.9516G= (p.Arg3172=)
| |
| 1 | g.215817051C>G | CA344824459 | USH2A | c.9516G>C (p.Arg3172Ser)
| |
| 1 | g.215817051C>T | CA423308707 | USH2A | c.9516G>A (p.Arg3172=)
| dbSNP |
| 1 | g.215817052C>A | CA344824464 | USH2A | c.9515G>T (p.Arg3172Met)
| |
| 1 | g.215817052C= | CA1220434317 | USH2A | c.9515G= (p.Arg3172=)
| |
| 1 | g.215817052C>G | CA344824466 | USH2A | c.9515G>C (p.Arg3172Thr)
| |
| 1 | g.215817052C>T | CA344824469 | USH2A | c.9515G>A (p.Arg3172Lys)
| dbSNP |
| 1 | g.215817053T>A | CA344824478 | USH2A | c.9514A>T (p.Arg3172Trp)
| |
| 1 | g.215817053T>C | CA344824475 | USH2A | c.9514A>G (p.Arg3172Gly)
| |
| 1 | g.215817053T>G | CA423308713 | USH2A | c.9514A>C (p.Arg3172=)
| |
| 1 | g.215817054C>A | CA423308714 | USH2A | c.9513G>T (p.Val3171=)
| |
| 1 | g.215817054C>G | CA423308716 | USH2A | c.9513G>C (p.Val3171=)
| ClinVar dbSNP |
| 1 | g.215817054C>T | CA423308718 | USH2A | c.9513G>A (p.Val3171=)
| |
| 1 | g.215817055A>C | CA344824480 | USH2A | c.9512T>G (p.Val3171Gly)
| |
| 1 | g.215817055A>G | CA344824482 | USH2A | c.9512T>C (p.Val3171Ala)
| |
| 1 | g.215817055A>T | CA344824485 | USH2A | c.9512T>A (p.Val3171Glu)
| |
| 1 | g.215817056C>A | CA344824486 | USH2A | c.9511G>T (p.Val3171Leu)
| |
| 1 | g.215817056C>G | CA344824487 | USH2A | c.9511G>C (p.Val3171Leu)
| gnomAD v4 |
| 1 | g.215817056C>T | CA344824490 | USH2A | c.9511G>A (p.Val3171Met)
| gnomAD v4 |
| 1 | g.215817057T>A | CA423308726 | USH2A | c.9510A>T (p.Ala3170=)
| |
| 1 | g.215817057T>C | CA423308728 | USH2A | c.9510A>G (p.Ala3170=)
| |
| 1 | g.215817057T>G | CA423308729 | USH2A | c.9510A>C (p.Ala3170=)
| |
| 1 | g.215817058G>A | CA344824495 | USH2A | c.9509C>T (p.Ala3170Val)
| gnomAD v4 |
| 1 | g.215817058G>C | CA344824494 | USH2A | c.9509C>G (p.Ala3170Gly)
| |
| 1 | g.215817058G>T | CA344824493 | USH2A | c.9509C>A (p.Ala3170Glu)
| |
| 1 | g.215817059C>A | CA344824520 | USH2A | c.9508G>T (p.Ala3170Ser)
| |
| 1 | g.215817059C>G | CA344824524 | USH2A | c.9508G>C (p.Ala3170Pro)
| gnomAD v4 |
| 1 | g.215817059C>T | CA344824527 | USH2A | c.9508G>A (p.Ala3170Thr)
| |
| 1 | g.215817060C>A | CA344824531 | USH2A | c.9507G>T (p.Lys3169Asn)
| |
| 1 | g.215817060C>G | CA344824544 | USH2A | c.9507G>C (p.Lys3169Asn)
| |
| 1 | g.215817060C>T | CA423308738 | USH2A | c.9507G>A (p.Lys3169=)
| |
| 1 | g.215817061T>A | CA344824551 | USH2A | c.9506A>T (p.Lys3169Met)
| gnomAD v4 |
| 1 | g.215817061T>C | CA344824555 | USH2A | c.9506A>G (p.Lys3169Arg)
| |
| 1 | g.215817061T>G | CA344824557 | USH2A | c.9506A>C (p.Lys3169Thr)
| |
| 1 | g.215817062T>A | CA344824561 | USH2A | c.9505A>T (p.Lys3169Ter)
| |
| 1 | g.215817062T>C | CA344824564 | USH2A | c.9505A>G (p.Lys3169Glu)
| dbSNP |
| 1 | g.215817062T>G | CA344824567 | USH2A | c.9505A>C (p.Lys3169Gln)
| |
| 1 | g.215817062T= | CA1220434318 | USH2A | c.9505A= (p.Lys3169=)
| |
| 1 | g.215817063G>A | CA423308747 | USH2A | c.9504C>T (p.Cys3168=)
| |
| 1 | g.215817063G>C | CA344824568 | USH2A | c.9504C>G (p.Cys3168Trp)
| |
| 1 | g.215817063G>T | CA344824570 | USH2A | c.9504C>A (p.Cys3168Ter)
| ClinVar dbSNP |
| 1 | g.215817064C>A | CA1394301 | USH2A | c.9503G>T (p.Cys3168Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817064C= | CA1148278628 | USH2A | c.9503G= (p.Cys3168=)
| |
| 1 | g.215817064C>G | CA344824575 | USH2A | c.9503G>C (p.Cys3168Ser)
| |
| 1 | g.215817064C>T | CA1394300 | USH2A | c.9503G>A (p.Cys3168Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817065A= | CA1220434319 | USH2A | c.9502T= (p.Cys3168=)
| |
| 1 | g.215817065A>C | CA344824583 | USH2A | c.9502T>G (p.Cys3168Gly)
| |
| 1 | g.215817065A>G | CA344824586 | USH2A | c.9502T>C (p.Cys3168Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817065A>T | CA344824588 | USH2A | c.9502T>A (p.Cys3168Ser)
| |
| 1 | g.215817066G>A | CA1394302 | USH2A | c.9501C>T (p.Leu3167=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817066G>C | CA423308759 | USH2A | c.9501C>G (p.Leu3167=)
| |
| 1 | g.215817066G= | CA1220434320 | USH2A | c.9501C= (p.Leu3167=)
| |
| 1 | g.215817066G>T | CA423308758 | USH2A | c.9501C>A (p.Leu3167=)
| |
| 1 | g.215817067A>C | CA344824590 | USH2A | c.9500T>G (p.Leu3167Arg)
| |
| 1 | g.215817067A>G | CA344824593 | USH2A | c.9500T>C (p.Leu3167Pro)
| |
| 1 | g.215817067A>T | CA344824596 | USH2A | c.9500T>A (p.Leu3167His)
| |
| 1 | g.215817068G>A | CA344824598 | USH2A | c.9499C>T (p.Leu3167Phe)
| |
| 1 | g.215817068G>C | CA344824600 | USH2A | c.9499C>G (p.Leu3167Val)
| |
| 1 | g.215817068G>T | CA344824609 | USH2A | c.9499C>A (p.Leu3167Ile)
| |
| 1 | g.215817069C>A | CA344824612 | USH2A | c.9498G>T (p.Glu3166Asp)
| |
| 1 | g.215817069C= | CA1149125068 | USH2A | c.9498G= (p.Glu3166=)
| |
| 1 | g.215817069C>G | CA1394303 | USH2A | c.9498G>C (p.Glu3166Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817069C>T | CA423308768 | USH2A | c.9498G>A (p.Glu3166=)
| ClinVar gnomAD v4 |
| 1 | g.215817072_215817078del | CA2586968188 | USH2A | c.9492_9498del (p.Asp3165SerfsTer5)
| |
| 1 | g.215817070T>A | CA344824629 | USH2A | c.9497A>T (p.Glu3166Val)
| |
| 1 | g.215817070T>C | CA344824627 | USH2A | c.9497A>G (p.Glu3166Gly)
| |
| 1 | g.215817070T>G | CA344824618 | USH2A | c.9497A>C (p.Glu3166Ala)
| gnomAD v4 |
| 1 | g.215817071C>A | CA344824632 | USH2A | c.9496G>T (p.Glu3166Ter)
| |
| 1 | g.215817071C>G | CA344824633 | USH2A | c.9496G>C (p.Glu3166Gln)
| |
| 1 | g.215817071C>T | CA344824634 | USH2A | c.9496G>A (p.Glu3166Lys)
| |
| 1 | g.215817072A= | CA1140613840 | USH2A | c.9495T= (p.Asp3165=)
| |
| 1 | g.215817072A>C | CA344824635 | USH2A | c.9495T>G (p.Asp3165Glu)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215817072A>G | CA143666 | USH2A | c.9495T>C (p.Asp3165=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817072A>T | CA344824641 | USH2A | c.9495T>A (p.Asp3165Glu)
| |
| 1 | g.215817072dup | CA2499214469 | USH2A | c.9495dup (p.Glu3166Ter)
| ClinVar dbSNP |
| 1 | g.215817073T>A | CA344824651 | USH2A | c.9494A>T (p.Asp3165Val)
| |
| 1 | g.215817073T>C | CA344824642 | USH2A | c.9494A>G (p.Asp3165Gly)
| |
| 1 | g.215817073T>G | CA344824649 | USH2A | c.9494A>C (p.Asp3165Ala)
| COSMIC COSMIC |
| 1 | g.215817074C>A | CA344824664 | USH2A | c.9493G>T (p.Asp3165Tyr)
| |
| 1 | g.215817074C>G | CA344824667 | USH2A | c.9493G>C (p.Asp3165His)
| |
| 1 | g.215817074C>T | CA344824669 | USH2A | c.9493G>A (p.Asp3165Asn)
| |
| 1 | g.215817075A= | CA1220434321 | USH2A | c.9492T= (p.Ser3164=)
| |
| 1 | g.215817075A>C | CA344824676 | USH2A | c.9492T>G (p.Ser3164Arg)
| |
| 1 | g.215817075A>G | CA423308784 | USH2A | c.9492T>C (p.Ser3164=)
| |
| 1 | g.215817075A>T | CA344824678 | USH2A | c.9492T>A (p.Ser3164Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817076C>A | CA344824692 | USH2A | c.9491G>T (p.Ser3164Ile)
| |
| 1 | g.215817076C>G | CA344824681 | USH2A | c.9491G>C (p.Ser3164Thr)
| |
| 1 | g.215817076C>T | CA344824684 | USH2A | c.9491G>A (p.Ser3164Asn)
| |
| 1 | g.215817077T>A | CA344824695 | USH2A | c.9490A>T (p.Ser3164Cys)
| |
| 1 | g.215817077T>C | CA344824698 | USH2A | c.9490A>G (p.Ser3164Gly)
| |
| 1 | g.215817077T>G | CA344824699 | USH2A | c.9490A>C (p.Ser3164Arg)
| |
| 1 | g.215817078C>A | CA344824700 | USH2A | c.9489G>T (p.Gln3163His)
| |
| 1 | g.215817078C>G | CA344824701 | USH2A | c.9489G>C (p.Gln3163His)
| dbSNP gnomAD v4 |
| 1 | g.215817078C>T | CA423308791 | USH2A | c.9489G>A (p.Gln3163=)
| gnomAD v4 |
| 1 | g.215817079del | CA2573131594 | USH2A | c.9488del (p.Gln3163ArgfsTer9)
| ClinVar dbSNP |
| 1 | g.215817079T>A | CA344824703 | USH2A | c.9488A>T (p.Gln3163Leu)
| |
| 1 | g.215817079T>C | CA344824706 | USH2A | c.9488A>G (p.Gln3163Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817079T>G | CA344824711 | USH2A | c.9488A>C (p.Gln3163Pro)
| |
| 1 | g.215817079T= | CA1220434322 | USH2A | c.9488A= (p.Gln3163=)
| |
| 1 | g.215817080G>A | CA37428054 | USH2A | c.9487C>T (p.Gln3163Ter)
| ClinVar dbSNP |
| 1 | g.215817080G>C | CA344824720 | USH2A | c.9487C>G (p.Gln3163Glu)
| |
| 1 | g.215817080G= | CA1143036860 | USH2A | c.9487C= (p.Gln3163=)
| |
| 1 | g.215817080G>T | CA37428058 | USH2A | c.9487C>A (p.Gln3163Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817081A>C | CA344824738 | USH2A | c.9486T>G (p.Asp3162Glu)
| |
| 1 | g.215817081A>G | CA423308798 | USH2A | c.9486T>C (p.Asp3162=)
| gnomAD v4 |
| 1 | g.215817081A>T | CA344824741 | USH2A | c.9486T>A (p.Asp3162Glu)
| |
| 1 | g.215817082T>A | CA344824759 | USH2A | c.9485A>T (p.Asp3162Val)
| |
| 1 | g.215817082T>C | CA344824746 | USH2A | c.9485A>G (p.Asp3162Gly)
| |
| 1 | g.215817082T>G | CA344824752 | USH2A | c.9485A>C (p.Asp3162Ala)
| |
| 1 | g.215817083C>A | CA344824763 | USH2A | c.9484G>T (p.Asp3162Tyr)
| |
| 1 | g.215817083C= | CA1220434323 | USH2A | c.9484G= (p.Asp3162=)
| |
| 1 | g.215817083C>G | CA344824767 | USH2A | c.9484G>C (p.Asp3162His)
| |
| 1 | g.215817083C>T | CA37428059 | USH2A | c.9484G>A (p.Asp3162Asn)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817084C>A | CA344824771 | USH2A | c.9483G>T (p.Gln3161His)
| |
| 1 | g.215817084C>G | CA344824774 | USH2A | c.9483G>C (p.Gln3161His)
| |
| 1 | g.215817084C>T | CA423308808 | USH2A | c.9483G>A (p.Gln3161=)
| ClinVar gnomAD v4 |
| 1 | g.215817085T>A | CA344824793 | USH2A | c.9482A>T (p.Gln3161Leu)
| |
| 1 | g.215817085T>C | CA344824780 | USH2A | c.9482A>G (p.Gln3161Arg)
| |
| 1 | g.215817085T>G | CA344824777 | USH2A | c.9482A>C (p.Gln3161Pro)
| gnomAD v4 |
| 1 | g.215817086G>A | CA344824797 | USH2A | c.9481C>T (p.Gln3161Ter)
| |
| 1 | g.215817086G>C | CA344824798 | USH2A | c.9481C>G (p.Gln3161Glu)
| |
| 1 | g.215817086G>T | CA344824799 | USH2A | c.9481C>A (p.Gln3161Lys)
| |
| 1 | g.215817087C>A | CA423308819 | USH2A | c.9480G>T (p.Val3160=)
| |
| 1 | g.215817087C>G | CA423308821 | USH2A | c.9480G>C (p.Val3160=)
| |
| 1 | g.215817087C>T | CA423308823 | USH2A | c.9480G>A (p.Val3160=)
| gnomAD v4 |
| 1 | g.215817088A= | CA1220434324 | USH2A | c.9479T= (p.Val3160=)
| |
| 1 | g.215817088A>C | CA344824800 | USH2A | c.9479T>G (p.Val3160Gly)
| |
| 1 | g.215817088A>G | CA344824803 | USH2A | c.9479T>C (p.Val3160Ala)
| |
| 1 | g.215817088A>T | CA1394304 | USH2A | c.9479T>A (p.Val3160Glu)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215817089C>A | CA344824815 | USH2A | c.9478G>T (p.Val3160Leu)
| |
| 1 | g.215817089C= | CA1220434325 | USH2A | c.9478G= (p.Val3160=)
| |
| 1 | g.215817089C>G | CA344824812 | USH2A | c.9478G>C (p.Val3160Leu)
| |
| 1 | g.215817089C>T | CA344824814 | USH2A | c.9478G>A (p.Val3160Met)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817090T>A | CA344824816 | USH2A | c.9477A>T (p.Leu3159Phe)
| |
| 1 | g.215817090T>C | CA423308830 | USH2A | c.9477A>G (p.Leu3159=)
| |
| 1 | g.215817090T>G | CA344824818 | USH2A | c.9477A>C (p.Leu3159Phe)
| |
| 1 | g.215817091A>C | CA344824820 | USH2A | c.9476T>G (p.Leu3159Ter)
| |
| 1 | g.215817091A>G | CA344824821 | USH2A | c.9476T>C (p.Leu3159Ser)
| |
| 1 | g.215817091A>T | CA344824824 | USH2A | c.9476T>A (p.Leu3159Ter)
| |
| 1 | g.215817092A>C | CA344824826 | USH2A | c.9475T>G (p.Leu3159Val)
| gnomAD v4 |
| 1 | g.215817092A>G | CA423308839 | USH2A | c.9475T>C (p.Leu3159=)
| |
| 1 | g.215817092A>T | CA344824827 | USH2A | c.9475T>A (p.Leu3159Ile)
| |
| 1 | g.215817093C>A | CA344824833 | USH2A | c.9474G>T (p.Lys3158Asn)
| |
| 1 | g.215817093C= | CA1220434326 | USH2A | c.9474G= (p.Lys3158=)
| |
| 1 | g.215817093C>G | CA344824835 | USH2A | c.9474G>C (p.Lys3158Asn)
| dbSNP gnomAD v4 |
| 1 | g.215817093C>T | CA423308853 | USH2A | c.9474G>A (p.Lys3158=)
| |
| 1 | g.215817094T>A | CA344824840 | USH2A | c.9473A>T (p.Lys3158Met)
| |
| 1 | g.215817094T>C | CA1394305 | USH2A | c.9473A>G (p.Lys3158Arg)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215817094T>G | CA344824845 | USH2A | c.9473A>C (p.Lys3158Thr)
| |
| 1 | g.215817094T= | CA1220434327 | USH2A | c.9473A= (p.Lys3158=)
| |
| 1 | g.215817097del | CA2499214470 | USH2A | c.9473del (p.Lys3158SerfsTer2)
| ClinVar dbSNP |
| 1 | g.215817095T>A | CA344824850 | USH2A | c.9472A>T (p.Lys3158Ter)
| |
| 1 | g.215817095T>C | CA344824855 | USH2A | c.9472A>G (p.Lys3158Glu)
| |
| 1 | g.215817095T>G | CA344824852 | USH2A | c.9472A>C (p.Lys3158Gln)
| |
| 1 | g.215817096T>A | CA344824857 | USH2A | c.9471A>T (p.Gln3157His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817096T>C | CA423308862 | USH2A | c.9471A>G (p.Gln3157=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817096T>G | CA344824859 | USH2A | c.9471A>C (p.Gln3157His)
| |
| 1 | g.215817096T= | CA1220434328 | USH2A | c.9471A= (p.Gln3157=)
| |
| 1 | g.215817097T>A | CA344824863 | USH2A | c.9470A>T (p.Gln3157Leu)
| |
| 1 | g.215817097T>C | CA344824866 | USH2A | c.9470A>G (p.Gln3157Arg)
| |
| 1 | g.215817097T>G | CA344824869 | USH2A | c.9470A>C (p.Gln3157Pro)
| gnomAD v4 |
| 1 | g.215817098G>A | CA1394306 | USH2A | c.9469C>T (p.Gln3157Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817098G>C | CA344824877 | USH2A | c.9469C>G (p.Gln3157Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817098G= | CA1220434329 | USH2A | c.9469C= (p.Gln3157=)
| |
| 1 | g.215817098G>T | CA344824879 | USH2A | c.9469C>A (p.Gln3157Lys)
| gnomAD v4 |
| 1 | g.215817099A= | CA1145197508 | USH2A | c.9468T= (p.Thr3156=)
| |
| 1 | g.215817099A>C | CA423308866 | USH2A | c.9468T>G (p.Thr3156=)
| ClinVar dbSNP |
| 1 | g.215817099A>G | CA423308868 | USH2A | c.9468T>C (p.Thr3156=)
| |
| 1 | g.215817099A>T | CA37428069 | USH2A | c.9468T>A (p.Thr3156=)
| ClinVar dbSNP |
| 1 | g.215817100G>A | CA344824886 | USH2A | c.9467C>T (p.Thr3156Ile)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817100G>C | CA344824891 | USH2A | c.9467C>G (p.Thr3156Ser)
| |
| 1 | g.215817100G= | CA1220434330 | USH2A | c.9467C= (p.Thr3156=)
| |
| 1 | g.215817100G>T | CA344824893 | USH2A | c.9467C>A (p.Thr3156Asn)
| |
| 1 | g.215817101T>A | CA344824897 | USH2A | c.9466A>T (p.Thr3156Ser)
| |
| 1 | g.215817101T>C | CA344824899 | USH2A | c.9466A>G (p.Thr3156Ala)
| |
| 1 | g.215817101T>G | CA344824919 | USH2A | c.9466A>C (p.Thr3156Pro)
| |
| 1 | g.215817104del | CA2574001919 | USH2A | c.9466del (p.Thr3156LeufsTer4)
| ClinVar gnomAD v4 |
| 1 | g.215817102T>A | CA344824924 | USH2A | c.9465A>T (p.Lys3155Asn)
| |
| 1 | g.215817102T>C | CA423308885 | USH2A | c.9465A>G (p.Lys3155=)
| |
| 1 | g.215817102T>G | CA344824928 | USH2A | c.9465A>C (p.Lys3155Asn)
| |
| 1 | g.215817103T>A | CA344824931 | USH2A | c.9464A>T (p.Lys3155Ile)
| |
| 1 | g.215817103T>C | CA1394307 | USH2A | c.9464A>G (p.Lys3155Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817103T>G | CA344824935 | USH2A | c.9464A>C (p.Lys3155Thr)
| |
| 1 | g.215817103T= | CA1220434331 | USH2A | c.9464A= (p.Lys3155=)
| |
| 1 | g.215817104T>A | CA344824939 | USH2A | c.9463A>T (p.Lys3155Ter)
| |
| 1 | g.215817104T>C | CA344824943 | USH2A | c.9463A>G (p.Lys3155Glu)
| gnomAD v4 |
| 1 | g.215817104T>G | CA344824946 | USH2A | c.9463A>C (p.Lys3155Gln)
| |
| 1 | g.215817105A= | CA1220434332 | USH2A | c.9462T= (p.Ala3154=)
| |
| 1 | g.215817105A>C | CA423308891 | USH2A | c.9462T>G (p.Ala3154=)
| |
| 1 | g.215817105A>G | CA37428070 | USH2A | c.9462T>C (p.Ala3154=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817105A>T | CA423308893 | USH2A | c.9462T>A (p.Ala3154=)
| |
| 1 | g.215817106G>A | CA344824948 | USH2A | c.9461C>T (p.Ala3154Val)
| ClinVar dbSNP |
| 1 | g.215817106G>C | CA344824951 | USH2A | c.9461C>G (p.Ala3154Gly)
| dbSNP COSMIC COSMIC |
| 1 | g.215817106G= | CA1220434333 | USH2A | c.9461C= (p.Ala3154=)
| |
| 1 | g.215817106G>T | CA344824955 | USH2A | c.9461C>A (p.Ala3154Asp)
| |
| 1 | g.215817106_215817108dup | CA2650528368 | USH2A | c.9459_9461dup (p.Ala3154_Lys3155insAla)
| gnomAD v4 |
| 1 | g.215817107C>A | CA1394309 | USH2A | c.9460G>T (p.Ala3154Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817107C= | CA1142353490 | USH2A | c.9460G= (p.Ala3154=)
| |
| 1 | g.215817107C>G | CA344824961 | USH2A | c.9460G>C (p.Ala3154Pro)
| |
| 1 | g.215817107C>T | CA1394308 | USH2A | c.9460G>A (p.Ala3154Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215817108G>A | CA182727 | USH2A | c.9459C>T (p.Cys3153=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215817108G>C | CA344824974 | USH2A | c.9459C>G (p.Cys3153Trp)
| |
| 1 | g.215817108G= | CA1140853901 | USH2A | c.9459C= (p.Cys3153=)
| |
| 1 | g.215817108G>T | CA262133 | USH2A | c.9459C>A (p.Cys3153Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817109C>A | CA344824979 | USH2A | c.9458G>T (p.Cys3153Phe)
| |
| 1 | g.215817109C>G | CA344824982 | USH2A | c.9458G>C (p.Cys3153Ser)
| |
| 1 | g.215817109C>T | CA344824983 | USH2A | c.9458G>A (p.Cys3153Tyr)
| |
| 1 | g.215817110A>C | CA344824984 | USH2A | c.9457T>G (p.Cys3153Gly)
| |
| 1 | g.215817110A>G | CA344824987 | USH2A | c.9457T>C (p.Cys3153Arg)
| |
| 1 | g.215817110A>T | CA344825000 | USH2A | c.9457T>A (p.Cys3153Ser)
| |
| 1 | g.215817111T>A | CA423308903 | USH2A | c.9456A>T (p.Pro3152=)
| |
| 1 | g.215817111T>C | CA423308906 | USH2A | c.9456A>G (p.Pro3152=)
| |
| 1 | g.215817111T>G | CA423308908 | USH2A | c.9456A>C (p.Pro3152=)
| |
| 1 | g.215817112G>A | CA344825015 | USH2A | c.9455C>T (p.Pro3152Leu)
| COSMIC COSMIC |
| 1 | g.215817112G>C | CA344825017 | USH2A | c.9455C>G (p.Pro3152Arg)
| |
| 1 | g.215817112G>T | CA344825019 | USH2A | c.9455C>A (p.Pro3152Gln)
| |
| 1 | g.215817113G>A | CA344825024 | USH2A | c.9454C>T (p.Pro3152Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817113G>C | CA344825032 | USH2A | c.9454C>G (p.Pro3152Ala)
| |
| 1 | g.215817113G= | CA1220434334 | USH2A | c.9454C= (p.Pro3152=)
| |
| 1 | g.215817113G>T | CA344825036 | USH2A | c.9454C>A (p.Pro3152Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817114A= | CA1220434335 | USH2A | c.9453T= (p.Tyr3151=)
| |
| 1 | g.215817114A>C | CA344825041 | USH2A | c.9453T>G (p.Tyr3151Ter)
| |
| 1 | g.215817114A>G | CA423308914 | USH2A | c.9453T>C (p.Tyr3151=)
| |
| 1 | g.215817114A>T | CA344825039 | USH2A | c.9453T>A (p.Tyr3151Ter)
| ClinVar dbSNP |
| 1 | g.215817115T>A | CA344825044 | USH2A | c.9452A>T (p.Tyr3151Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817115T>C | CA344825047 | USH2A | c.9452A>G (p.Tyr3151Cys)
| |
| 1 | g.215817115T>G | CA344825048 | USH2A | c.9452A>C (p.Tyr3151Ser)
| |
| 1 | g.215817115T= | CA1220434336 | USH2A | c.9452A= (p.Tyr3151=)
| |
| 1 | g.215817116A= | CA1141959415 | USH2A | c.9451T= (p.Tyr3151=)
| |
| 1 | g.215817116A>C | CA344825050 | USH2A | c.9451T>G (p.Tyr3151Asp)
| |
| 1 | g.215817116A>G | CA1394310 | USH2A | c.9451T>C (p.Tyr3151His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817116A>T | CA344825057 | USH2A | c.9451T>A (p.Tyr3151Asn)
| |
| 1 | g.215817117C>A | CA344825060 | USH2A | c.9450G>T (p.Trp3150Cys)
| |
| 1 | g.215817117C>G | CA344825062 | USH2A | c.9450G>C (p.Trp3150Cys)
| |
| 1 | g.215817117C>T | CA344825064 | USH2A | c.9450G>A (p.Trp3150Ter)
| |
| 1 | g.215817118C>A | CA344825066 | USH2A | c.9449G>T (p.Trp3150Leu)
| |
| 1 | g.215817118C= | CA1220434337 | USH2A | c.9449G= (p.Trp3150=)
| |
| 1 | g.215817118C>G | CA344825067 | USH2A | c.9449G>C (p.Trp3150Ser)
| |
| 1 | g.215817118C>T | CA344825068 | USH2A | c.9449G>A (p.Trp3150Ter)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215817119A= | CA1220434338 | USH2A | c.9448T= (p.Trp3150=)
| |
| 1 | g.215817119A>C | CA344825075 | USH2A | c.9448T>G (p.Trp3150Gly)
| |
| 1 | g.215817119A>G | CA344825072 | USH2A | c.9448T>C (p.Trp3150Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817119A>T | CA344825069 | USH2A | c.9448T>A (p.Trp3150Arg)
| ClinVar dbSNP |
| 1 | g.215817120T>A | CA423308932 | USH2A | c.9447A>T (p.Thr3149=)
| |
| 1 | g.215817120T>C | CA423308933 | USH2A | c.9447A>G (p.Thr3149=)
| ClinVar gnomAD v4 |
| 1 | g.215817120T>G | CA423308935 | USH2A | c.9447A>C (p.Thr3149=)
| |
| 1 | g.215817121G>A | CA344825081 | USH2A | c.9446C>T (p.Thr3149Ile)
| gnomAD v4 |
| 1 | g.215817121G>C | CA344825088 | USH2A | c.9446C>G (p.Thr3149Arg)
| dbSNP gnomAD v4 |
| 1 | g.215817121G= | CA1220434339 | USH2A | c.9446C= (p.Thr3149=)
| |
| 1 | g.215817121G>T | CA344825087 | USH2A | c.9446C>A (p.Thr3149Lys)
| |
| 1 | g.215817122T>A | CA344825091 | USH2A | c.9445A>T (p.Thr3149Ser)
| |
| 1 | g.215817122T>C | CA344825099 | USH2A | c.9445A>G (p.Thr3149Ala)
| gnomAD v4 |
| 1 | g.215817122T>G | CA344825094 | USH2A | c.9445A>C (p.Thr3149Pro)
| |
| 1 | g.215817125dup | CA2650528369 | USH2A | c.9445dup (p.Thr3149AsnfsTer7)
| gnomAD v4 |
| 1 | g.215817123T>A | CA344825102 | USH2A | c.9444A>T (p.Lys3148Asn)
| |
| 1 | g.215817123T>C | CA423308940 | USH2A | c.9444A>G (p.Lys3148=)
| |
| 1 | g.215817123T>G | CA344825107 | USH2A | c.9444A>C (p.Lys3148Asn)
| gnomAD v4 |
| 1 | g.215817124T>A | CA344825110 | USH2A | c.9443A>T (p.Lys3148Ile)
| |
| 1 | g.215817124T>C | CA344825111 | USH2A | c.9443A>G (p.Lys3148Arg)
| |
| 1 | g.215817124T>G | CA344825112 | USH2A | c.9443A>C (p.Lys3148Thr)
| |
| 1 | g.215817125T>A | CA344825114 | USH2A | c.9442A>T (p.Lys3148Ter)
| |
| 1 | g.215817125T>C | CA344825115 | USH2A | c.9442A>G (p.Lys3148Glu)
| |
| 1 | g.215817125T>G | CA344825118 | USH2A | c.9442A>C (p.Lys3148Gln)
| |
| 1 | g.215817126C>A | CA344825121 | USH2A | c.9441G>T (p.Trp3147Cys)
| |
| 1 | g.215817126C= | CA1220434340 | USH2A | c.9441G= (p.Trp3147=)
| |
| 1 | g.215817126C>G | CA344825124 | USH2A | c.9441G>C (p.Trp3147Cys)
| |
| 1 | g.215817126C>T | CA344825126 | USH2A | c.9441G>A (p.Trp3147Ter)
| ClinVar dbSNP |
| 1 | g.215817127C>A | CA344825129 | USH2A | c.9440G>T (p.Trp3147Leu)
| |
| 1 | g.215817127C= | CA1220434341 | USH2A | c.9440G= (p.Trp3147=)
| |
| 1 | g.215817127C>G | CA344825132 | USH2A | c.9440G>C (p.Trp3147Ser)
| |
| 1 | g.215817127C>T | CA344825133 | USH2A | c.9440G>A (p.Trp3147Ter)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215817128A= | CA1141693322 | USH2A | c.9439T= (p.Trp3147=)
| |
| 1 | g.215817128A>C | CA344825137 | USH2A | c.9439T>G (p.Trp3147Gly)
| |
| 1 | g.215817128A>G | CA1394312 | USH2A | c.9439T>C (p.Trp3147Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817128A>T | CA344825134 | USH2A | c.9439T>A (p.Trp3147Arg)
| |
| 1 | g.215817129T>A | CA423308955 | USH2A | c.9438A>T (p.Leu3146=)
| COSMIC COSMIC |
| 1 | g.215817129T>C | CA37428096 | USH2A | c.9438A>G (p.Leu3146=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817129T>G | CA423308959 | USH2A | c.9438A>C (p.Leu3146=)
| dbSNP |
| 1 | g.215817129T= | CA1220434342 | USH2A | c.9438A= (p.Leu3146=)
| |
| 1 | g.215817129_215817130insTCCT | CA1394311 | USH2A | c.9438_9439insGGAA (p.Trp3147GlyfsTer10)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817130A= | CA1220434343 | USH2A | c.9437T= (p.Leu3146=)
| |
| 1 | g.215817130A>C | CA344825141 | USH2A | c.9437T>G (p.Leu3146Arg)
| |
| 1 | g.215817130A>G | CA344825143 | USH2A | c.9437T>C (p.Leu3146Pro)
| ClinVar dbSNP |
| 1 | g.215817130A>T | CA344825144 | USH2A | c.9437T>A (p.Leu3146Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817130_215817131insT | CA1394313 | USH2A | c.9436_9437insA (p.Leu3146HisfsTer10)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817131G>A | CA423308966 | USH2A | c.9436C>T (p.Leu3146=)
| |
| 1 | g.215817131G>C | CA344825150 | USH2A | c.9436C>G (p.Leu3146Val)
| |
| 1 | g.215817131G>T | CA344825152 | USH2A | c.9436C>A (p.Leu3146Ile)
| COSMIC COSMIC |
