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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215743124dup | CA1220402640 | USH2A | c.11548+58dup (n.11548+58dup) | dbSNP |
| 1 | g.215743124del | CA2650502082 | USH2A | c.11548+58del (n.11548+58del) | gnomAD v4 |
| 1 | g.215743121T>C | CA2650502083 | USH2A | c.11548+56A>G (n.11548+56A>G) | gnomAD v4 |
| 1 | g.215743124T>A | CA2574132882 | USH2A | c.11548+53A>T (n.11548+53A>T) | gnomAD v4 |
| 1 | g.215743125A>G | CA2574132883 | USH2A | c.11548+52T>C (n.11548+52T>C) | gnomAD v4 |
| 1 | g.215743127T>A | CA2650502084 | USH2A | c.11548+50A>T (n.11548+50A>T) | gnomAD v4 |
| 1 | g.215743127T>C | CA1393680 | USH2A | c.11548+50A>G (n.11548+50A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215743127T= | CA1144033270 | USH2A | c.11548+50A= (n.11548+50A=) | |
| 1 | g.215743128G>A | CA2650502085 | USH2A | c.11548+49C>T (n.11548+49C>T) | gnomAD v4 |
| 1 | g.215743128G= | CA1220402641 | USH2A | c.11548+49C= (n.11548+49C=) | |
| 1 | g.215743128G>T | CA1393681 | USH2A | c.11548+49C>A (n.11548+49C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215743132T>C | CA37406773 | USH2A | c.11548+45A>G (n.11548+45A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743132T= | CA1220402642 | USH2A | c.11548+45A= (n.11548+45A=) | |
| 1 | g.215743133A>G | CA2650502086 | USH2A | c.11548+44T>C (n.11548+44T>C) | gnomAD v4 |
| 1 | g.215743134del | CA2650502087 | USH2A | c.11548+43del (n.11548+43del) | gnomAD v4 |
| 1 | g.215743134C>T | CA2650502088 | USH2A | c.11548+43G>A (n.11548+43G>A) | gnomAD v4 |
| 1 | g.215743135T>A | CA1393682 | USH2A | c.11548+42A>T (n.11548+42A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215743135T>C | CA2650502089 | USH2A | c.11548+42A>G (n.11548+42A>G) | gnomAD v4 |
| 1 | g.215743135T= | CA1148229916 | USH2A | c.11548+42A= (n.11548+42A=) | |
| 1 | g.215743136T>C | CA2650502090 | USH2A | c.11548+41A>G (n.11548+41A>G) | gnomAD v4 |
| 1 | g.215743137T>C | CA529002160 | USH2A | c.11548+40A>G (n.11548+40A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743137T= | CA1220402643 | USH2A | c.11548+40A= (n.11548+40A=) | |
| 1 | g.215743140C>A | CA2574132884 | USH2A | c.11548+37G>T (n.11548+37G>T) | |
| 1 | g.215743142T>C | CA2574132885 | USH2A | c.11548+35A>G (n.11548+35A>G) | gnomAD v4 |
| 1 | g.215743144A= | CA1220402644 | USH2A | c.11548+33T= (n.11548+33T=) | |
| 1 | g.215743144A>G | CA37406776 | USH2A | c.11548+33T>C (n.11548+33T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215743146A>T | CA2650502091 | USH2A | c.11548+31T>A (n.11548+31T>A) | gnomAD v4 |
| 1 | g.215743147G>A | CA731350764 | USH2A | c.11548+30C>T (n.11548+30C>T) | dbSNP gnomAD v4 |
| 1 | g.215743147G= | CA1220402645 | USH2A | c.11548+30C= (n.11548+30C=) | |
| 1 | g.215743147_215743148delinsGC | CA1220402646 | USH2A | c.11548+29_11548+30delinsGC (n.11548+29_11548+30delinsGC) | |
| 1 | g.215743150del | CA529002161 | USH2A | c.11548+29del (n.11548+29del) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215743149C>A | CA1012190529 | USH2A | c.11548+28G>T (n.11548+28G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215743149C= | CA1220402647 | USH2A | c.11548+28G= (n.11548+28G=) | |
| 1 | g.215743149C>G | CA1393684 | USH2A | c.11548+28G>C (n.11548+28G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743149C>T | CA1393683 | USH2A | c.11548+28G>A (n.11548+28G>A) | dbSNP ExAC gnomAD v4 |
| 1 | g.215743151A>G | CA2650502092 | USH2A | c.11548+26T>C (n.11548+26T>C) | gnomAD v4 |
| 1 | g.215743151A>T | CA2747719587 | USH2A | c.11548+26T>A (n.11548+26T>A) | |
| 1 | g.215743152G>T | CA2574132886 | USH2A | c.11548+25C>A (n.11548+25C>A) | |
| 1 | g.215743153G= | CA1149049309 | USH2A | c.11548+24C= (n.11548+24C=) | |
| 1 | g.215743153G>T | CA1393685 | USH2A | c.11548+24C>A (n.11548+24C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215743155C>T | CA2550240750 | USH2A | c.11548+22G>A (n.11548+22G>A) | |
| 1 | g.215743157A>G | CA2650502093 | USH2A | c.11548+20T>C (n.11548+20T>C) | gnomAD v4 |
| 1 | g.215743158G>A | CA2573131568 | USH2A | c.11548+19C>T (n.11548+19C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215743158G>C | CA2739275584 | USH2A | c.11548+19C>G (n.11548+19C>G) | ClinVar |
| 1 | g.215743159T>C | CA1220402649 | USH2A | c.11548+18A>G (n.11548+18A>G) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215743159T= | CA1220402648 | USH2A | c.11548+18A= (n.11548+18A=) | |
| 1 | g.215743160G>A | CA2698064258 | USH2A | c.11548+17C>T (n.11548+17C>T) | dbSNP |
| 1 | g.215743160G>T | CA2739275585 | USH2A | c.11548+17C>A (n.11548+17C>A) | ClinVar |
| 1 | g.215743161T>C | CA1012190532 | USH2A | c.11548+16A>G (n.11548+16A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215743161T>G | CA1393686 | USH2A | c.11548+16A>C (n.11548+16A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743161T= | CA1145618789 | USH2A | c.11548+16A= (n.11548+16A=) | |
| 1 | g.215743162C= | CA1220402650 | USH2A | c.11548+15G= (n.11548+15G=) | |
| 1 | g.215743162C>T | CA1220402651 | USH2A | c.11548+15G>A (n.11548+15G>A) | ClinVar dbSNP |
| 1 | g.215743163T>A | CA2650502094 | USH2A | c.11548+14A>T (n.11548+14A>T) | dbSNP gnomAD v4 |
| 1 | g.215743163T>C | CA1393687 | USH2A | c.11548+14A>G (n.11548+14A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215743163T= | CA1220402652 | USH2A | c.11548+14A= (n.11548+14A=) | |
| 1 | g.215743165A>C | CA646410925 | USH2A | c.11548+12T>G (n.11548+12T>G) | COSMIC |
| 1 | g.215743165A>G | CA2650502095 | USH2A | c.11548+12T>C (n.11548+12T>C) | gnomAD v4 |
| 1 | g.215743165_215743166insTCC | CA2574132887 | USH2A | c.11548+11_11548+12insGGA (n.11548+11_11548+12insGGA) | |
| 1 | g.215743166A= | CA1143151000 | USH2A | c.11548+11T= (n.11548+11T=) | |
| 1 | g.215743166A>C | CA1393688 | USH2A | c.11548+11T>G (n.11548+11T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743167_215743168insCA | CA2650502096 | USH2A | c.11548+10_11548+11insGT (n.11548+10_11548+11insGT) | gnomAD v4 |
| 1 | g.215743168G>A | CA2650502097 | USH2A | c.11548+9C>T (n.11548+9C>T) | gnomAD v4 |
| 1 | g.215743168G>C | CA1393689 | USH2A | c.11548+9C>G (n.11548+9C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743168G= | CA1220402653 | USH2A | c.11548+9C= (n.11548+9C=) | |
| 1 | g.215743168G>T | CA2747719588 | USH2A | c.11548+9C>A (n.11548+9C>A) | |
| 1 | g.215743169A>C | CA2650502098 | USH2A | c.11548+8T>G (n.11548+8T>G) | gnomAD v4 |
| 1 | g.215743169A>T | CA2650502099 | USH2A | c.11548+8T>A (n.11548+8T>A) | gnomAD v4 |
| 1 | g.215743170_215743174dup | CA2739275586 | USH2A | c.11548+3_11548+7dup (n.11548+3_11548+7dup) | ClinVar |
| 1 | g.215743173dup | CA2580062039 | USH2A | c.11548+6dup (n.11548+6dup) | ClinVar |
| 1 | g.215743172T>C | CA2574132888 | USH2A | c.11548+5A>G (n.11548+5A>G) | |
| 1 | g.215743173T>A | CA529002162 | USH2A | c.11548+4A>T (n.11548+4A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215743173T>C | CA2573131569 | USH2A | c.11548+4A>G (n.11548+4A>G) | ClinVar dbSNP |
| 1 | g.215743173T= | CA1220402654 | USH2A | c.11548+4A= (n.11548+4A=) | |
| 1 | g.215743175A= | CA1220402655 | USH2A | c.11548+2T= (n.11548+2T=) | |
| 1 | g.215743175A>C | CA344834487 | USH2A | c.11548+2T>G (n.11548+2T>G) | ClinVar dbSNP |
| 1 | g.215743175A>G | CA344834488 | USH2A | c.11548+2T>C (n.11548+2T>C) | |
| 1 | g.215743175A>T | CA344834489 | USH2A | c.11548+2T>A (n.11548+2T>A) | |
| 1 | g.215743176C>A | CA344834491 | USH2A | c.11548+1G>T (n.11548+1G>T) | gnomAD v4 |
| 1 | g.215743176C>G | CA344834492 | USH2A | c.11548+1G>C (n.11548+1G>C) | |
| 1 | g.215743176C>T | CA344834490 | USH2A | c.11548+1G>A (n.11548+1G>A) | |
| 1 | g.215743177C>A | CA344834493 | USH2A | c.11548G>T (p.Gly3850Ter) | |
| 1 | g.215743177C= | CA1220402656 | USH2A | c.11548G= (p.Gly3850=) | |
| 1 | g.215743177C>G | CA344834494 | USH2A | c.11548G>C (p.Gly3850Arg) | |
| 1 | g.215743177C>T | CA344834495 | USH2A | c.11548G>A (p.Gly3850Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215743178A= | CA1144537788 | USH2A | c.11547T= (p.Asn3849=) | |
| 1 | g.215743178A>C | CA344834496 | USH2A | c.11547T>G (p.Asn3849Lys) | |
| 1 | g.215743178A>G | CA1393690 | USH2A | c.11547T>C (p.Asn3849=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743178A>T | CA344834497 | USH2A | c.11547T>A (p.Asn3849Lys) | |
| 1 | g.215743179T>A | CA344834500 | USH2A | c.11546A>T (p.Asn3849Ile) | |
| 1 | g.215743179T>C | CA344834498 | USH2A | c.11546A>G (p.Asn3849Ser) | gnomAD v4 |
| 1 | g.215743179T>G | CA344834499 | USH2A | c.11546A>C (p.Asn3849Thr) | |
| 1 | g.215743182dup | CA2841309560 | USH2A | c.11546dup (p.Asn3849LysfsTer7) | |
| 1 | g.215743180T>A | CA344834501 | USH2A | c.11545A>T (p.Asn3849Tyr) | |
| 1 | g.215743180T>C | CA344834502 | USH2A | c.11545A>G (p.Asn3849Asp) | |
| 1 | g.215743180T>G | CA344834503 | USH2A | c.11545A>C (p.Asn3849His) | |
| 1 | g.215743181T>A | CA344834504 | USH2A | c.11544A>T (p.Gln3848His) | |
| 1 | g.215743181T>C | CA423314590 | USH2A | c.11544A>G (p.Gln3848=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215743181T>G | CA344834505 | USH2A | c.11544A>C (p.Gln3848His) | |
| 1 | g.215743181T= | CA1220402657 | USH2A | c.11544A= (p.Gln3848=) | |
| 1 | g.215743182T>A | CA344834506 | USH2A | c.11543A>T (p.Gln3848Leu) | |
| 1 | g.215743182T>C | CA344834508 | USH2A | c.11543A>G (p.Gln3848Arg) | |
| 1 | g.215743182T>G | CA344834507 | USH2A | c.11543A>C (p.Gln3848Pro) | |
| 1 | g.215743183G>A | CA344834509 | USH2A | c.11542C>T (p.Gln3848Ter) | |
| 1 | g.215743183G>C | CA344834510 | USH2A | c.11542C>G (p.Gln3848Glu) | |
| 1 | g.215743183G= | CA1220402658 | USH2A | c.11542C= (p.Gln3848=) | |
| 1 | g.215743183G>T | CA344834515 | USH2A | c.11542C>A (p.Gln3848Lys) | dbSNP gnomAD v4 |
| 1 | g.215743184A>C | CA344834517 | USH2A | c.11541T>G (p.Cys3847Trp) | |
| 1 | g.215743184A>G | CA423314592 | USH2A | c.11541T>C (p.Cys3847=) | COSMIC COSMIC |
| 1 | g.215743184A>T | CA344834518 | USH2A | c.11541T>A (p.Cys3847Ter) | |
| 1 | g.215743185C>A | CA344834521 | USH2A | c.11540G>T (p.Cys3847Phe) | |
| 1 | g.215743185C>G | CA344834522 | USH2A | c.11540G>C (p.Cys3847Ser) | |
| 1 | g.215743185C>T | CA344834532 | USH2A | c.11540G>A (p.Cys3847Tyr) | gnomAD v4 |
| 1 | g.215743186A= | CA1220402659 | USH2A | c.11539T= (p.Cys3847=) | |
| 1 | g.215743186A>C | CA344834536 | USH2A | c.11539T>G (p.Cys3847Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215743186A>G | CA344834539 | USH2A | c.11539T>C (p.Cys3847Arg) | |
| 1 | g.215743186A>T | CA344834541 | USH2A | c.11539T>A (p.Cys3847Ser) | |
| 1 | g.215743187T>A | CA423314595 | USH2A | c.11538A>T (p.Ala3846=) | |
| 1 | g.215743187T>C | CA423314597 | USH2A | c.11538A>G (p.Ala3846=) | |
| 1 | g.215743187T>G | CA423314598 | USH2A | c.11538A>C (p.Ala3846=) | |
| 1 | g.215743188G>A | CA344834550 | USH2A | c.11537C>T (p.Ala3846Val) | ClinVar dbSNP |
| 1 | g.215743188G>C | CA344834546 | USH2A | c.11537C>G (p.Ala3846Gly) | |
| 1 | g.215743188G= | CA1220402660 | USH2A | c.11537C= (p.Ala3846=) | |
| 1 | g.215743188G>T | CA344834543 | USH2A | c.11537C>A (p.Ala3846Glu) | |
| 1 | g.215743189C>A | CA344834552 | USH2A | c.11536G>T (p.Ala3846Ser) | |
| 1 | g.215743189C= | CA1220402661 | USH2A | c.11536G= (p.Ala3846=) | |
| 1 | g.215743189C>G | CA344834556 | USH2A | c.11536G>C (p.Ala3846Pro) | |
| 1 | g.215743189C>T | CA1393691 | USH2A | c.11536G>A (p.Ala3846Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743190T>A | CA344834559 | USH2A | c.11535A>T (p.Gln3845His) | |
| 1 | g.215743190T>C | CA423314599 | USH2A | c.11535A>G (p.Gln3845=) | ClinVar dbSNP |
| 1 | g.215743190T>G | CA344834560 | USH2A | c.11535A>C (p.Gln3845His) | |
| 1 | g.215743190T= | CA1220402662 | USH2A | c.11535A= (p.Gln3845=) | |
| 1 | g.215743191T>A | CA344834562 | USH2A | c.11534A>T (p.Gln3845Leu) | |
| 1 | g.215743191T>C | CA344834563 | USH2A | c.11534A>G (p.Gln3845Arg) | |
| 1 | g.215743191T>G | CA344834564 | USH2A | c.11534A>C (p.Gln3845Pro) | ClinVar dbSNP |
| 1 | g.215743191T= | CA1220402663 | USH2A | c.11534A= (p.Gln3845=) | |
| 1 | g.215743192G>A | CA344834566 | USH2A | c.11533C>T (p.Gln3845Ter) | ClinVar gnomAD v4 |
| 1 | g.215743192G>C | CA344834568 | USH2A | c.11533C>G (p.Gln3845Glu) | |
| 1 | g.215743192G>T | CA344834570 | USH2A | c.11533C>A (p.Gln3845Lys) | |
| 1 | g.215743193T>A | CA423314600 | USH2A | c.11532A>T (p.Ile3844=) | |
| 1 | g.215743193T>C | CA1393692 | USH2A | c.11532A>G (p.Ile3844Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743193T>G | CA423314602 | USH2A | c.11532A>C (p.Ile3844=) | |
| 1 | g.215743193T= | CA1220402664 | USH2A | c.11532A= (p.Ile3844=) | |
| 1 | g.215743194A= | CA1220402665 | USH2A | c.11531T= (p.Ile3844=) | |
| 1 | g.215743194A>C | CA344834575 | USH2A | c.11531T>G (p.Ile3844Arg) | |
| 1 | g.215743194A>G | CA344834573 | USH2A | c.11531T>C (p.Ile3844Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215743194A>T | CA344834574 | USH2A | c.11531T>A (p.Ile3844Lys) | ClinVar dbSNP |
| 1 | g.215743195T>A | CA344834576 | USH2A | c.11530A>T (p.Ile3844Leu) | |
| 1 | g.215743195T>C | CA344834578 | USH2A | c.11530A>G (p.Ile3844Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743195T>G | CA344834579 | USH2A | c.11530A>C (p.Ile3844Leu) | |
| 1 | g.215743195T= | CA1220402666 | USH2A | c.11530A= (p.Ile3844=) | |
| 1 | g.215743196C>A | CA344834580 | USH2A | c.11529G>T (p.Arg3843Ser) | |
| 1 | g.215743196C>G | CA344834582 | USH2A | c.11529G>C (p.Arg3843Ser) | |
| 1 | g.215743196C>T | CA423314603 | USH2A | c.11529G>A (p.Arg3843=) | gnomAD v4 |
| 1 | g.215743197C>A | CA344834584 | USH2A | c.11528G>T (p.Arg3843Met) | |
| 1 | g.215743197C= | CA1145559702 | USH2A | c.11528G= (p.Arg3843=) | |
| 1 | g.215743197C>G | CA1393693 | USH2A | c.11528G>C (p.Arg3843Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743197C>T | CA344834586 | USH2A | c.11528G>A (p.Arg3843Lys) | gnomAD v4 |
| 1 | g.215743197_215743199del | CA2586968130 | USH2A | c.11526_11528del (p.Ile3842_Arg3843delinsMet) | |
| 1 | g.215743198T>A | CA344834588 | USH2A | c.11527A>T (p.Arg3843Trp) | |
| 1 | g.215743198T>C | CA344834590 | USH2A | c.11527A>G (p.Arg3843Gly) | |
| 1 | g.215743198T>G | CA423314604 | USH2A | c.11527A>C (p.Arg3843=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215743198T= | CA1220402667 | USH2A | c.11527A= (p.Arg3843=) | |
| 1 | g.215743199T>A | CA423314605 | USH2A | c.11526A>T (p.Ile3842=) | |
| 1 | g.215743199T>C | CA344834592 | USH2A | c.11526A>G (p.Ile3842Met) | COSMIC COSMIC |
| 1 | g.215743199T>G | CA423314607 | USH2A | c.11526A>C (p.Ile3842=) | |
| 1 | g.215743200A>C | CA344834595 | USH2A | c.11525T>G (p.Ile3842Arg) | |
| 1 | g.215743200A>G | CA344834597 | USH2A | c.11525T>C (p.Ile3842Thr) | |
| 1 | g.215743200A>T | CA344834600 | USH2A | c.11525T>A (p.Ile3842Lys) | |
| 1 | g.215743201T>A | CA344834619 | USH2A | c.11524A>T (p.Ile3842Leu) | COSMIC |
| 1 | g.215743201T>C | CA344834622 | USH2A | c.11524A>G (p.Ile3842Val) | |
| 1 | g.215743201T>G | CA344834624 | USH2A | c.11524A>C (p.Ile3842Leu) | |
| 1 | g.215743202C>A | CA344834625 | USH2A | c.11523G>T (p.Glu3841Asp) | |
| 1 | g.215743202C>G | CA344834627 | USH2A | c.11523G>C (p.Glu3841Asp) | gnomAD v4 |
| 1 | g.215743202C>T | CA423314608 | USH2A | c.11523G>A (p.Glu3841=) | |
| 1 | g.215743202_215743205del | CA2586968131 | USH2A | c.11520_11523del (p.Tyr3840Ter) | |
| 1 | g.215743203T>A | CA344834631 | USH2A | c.11522A>T (p.Glu3841Val) | |
| 1 | g.215743203T>C | CA344834634 | USH2A | c.11522A>G (p.Glu3841Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215743203T>G | CA344834633 | USH2A | c.11522A>C (p.Glu3841Ala) | |
| 1 | g.215743203T= | CA1220402668 | USH2A | c.11522A= (p.Glu3841=) | |
| 1 | g.215743204C>A | CA344834635 | USH2A | c.11521G>T (p.Glu3841Ter) | |
| 1 | g.215743204C>G | CA344834637 | USH2A | c.11521G>C (p.Glu3841Gln) | |
| 1 | g.215743204C>T | CA344834639 | USH2A | c.11521G>A (p.Glu3841Lys) | |
| 1 | g.215743205A>C | CA344834643 | USH2A | c.11520T>G (p.Tyr3840Ter) | gnomAD v4 |
| 1 | g.215743205A>G | CA423314610 | USH2A | c.11520T>C (p.Tyr3840=) | ClinVar dbSNP |
| 1 | g.215743205A>T | CA344834645 | USH2A | c.11520T>A (p.Tyr3840Ter) | |
| 1 | g.215743206T>A | CA344834647 | USH2A | c.11519A>T (p.Tyr3840Phe) | |
| 1 | g.215743206T>C | CA344834649 | USH2A | c.11519A>G (p.Tyr3840Cys) | dbSNP gnomAD v4 |
| 1 | g.215743206T>G | CA344834651 | USH2A | c.11519A>C (p.Tyr3840Ser) | |
| 1 | g.215743206T= | CA1220402669 | USH2A | c.11519A= (p.Tyr3840=) | |
| 1 | g.215743207A>C | CA344834655 | USH2A | c.11518T>G (p.Tyr3840Asp) | |
| 1 | g.215743207A>G | CA344834661 | USH2A | c.11518T>C (p.Tyr3840His) | |
| 1 | g.215743207A>T | CA344834664 | USH2A | c.11518T>A (p.Tyr3840Asn) | |
| 1 | g.215743208C>A | CA344834669 | USH2A | c.11517G>T (p.Gln3839His) | |
| 1 | g.215743208C= | CA1220402670 | USH2A | c.11517G= (p.Gln3839=) | |
| 1 | g.215743208C>G | CA344834667 | USH2A | c.11517G>C (p.Gln3839His) | |
| 1 | g.215743208C>T | CA1393694 | USH2A | c.11517G>A (p.Gln3839=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743208_215743209delinsCT | CA1220402671 | USH2A | c.11516_11517delinsAG (p.Gln3839=) | |
| 1 | g.215743209del | CA529002163 | USH2A | c.11516del (p.Gln3839ArgfsTer4) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215743209T>A | CA344834671 | USH2A | c.11516A>T (p.Gln3839Leu) | |
| 1 | g.215743209T>C | CA344834672 | USH2A | c.11516A>G (p.Gln3839Arg) | |
| 1 | g.215743209T>G | CA344834673 | USH2A | c.11516A>C (p.Gln3839Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215743209T= | CA1220402672 | USH2A | c.11516A= (p.Gln3839=) | |
| 1 | g.215743210G>A | CA344834674 | USH2A | c.11515C>T (p.Gln3839Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215743210G>C | CA344834675 | USH2A | c.11515C>G (p.Gln3839Glu) | |
| 1 | g.215743210G>T | CA344834677 | USH2A | c.11515C>A (p.Gln3839Lys) | |
| 1 | g.215743211T>A | CA423314612 | USH2A | c.11514A>T (p.Thr3838=) | |
| 1 | g.215743211T>C | CA423314613 | USH2A | c.11514A>G (p.Thr3838=) | COSMIC COSMIC |
| 1 | g.215743211T>G | CA1393695 | USH2A | c.11514A>C (p.Thr3838=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215743211T= | CA1220402673 | USH2A | c.11514A= (p.Thr3838=) | |
| 1 | g.215743212G>A | CA344834685 | USH2A | c.11513C>T (p.Thr3838Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215743212G>C | CA344834686 | USH2A | c.11513C>G (p.Thr3838Arg) | |
| 1 | g.215743212G= | CA1220402674 | USH2A | c.11513C= (p.Thr3838=) | |
| 1 | g.215743212G>T | CA344834688 | USH2A | c.11513C>A (p.Thr3838Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215743213T>A | CA344834690 | USH2A | c.11512A>T (p.Thr3838Ser) | |
| 1 | g.215743213T>C | CA344834697 | USH2A | c.11512A>G (p.Thr3838Ala) | |
| 1 | g.215743213T>G | CA344834699 | USH2A | c.11512A>C (p.Thr3838Pro) | |
| 1 | g.215743214G>A | CA423314614 | USH2A | c.11511C>T (p.Phe3837=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215743214G>C | CA344834702 | USH2A | c.11511C>G (p.Phe3837Leu) | |
| 1 | g.215743214G>T | CA344834704 | USH2A | c.11511C>A (p.Phe3837Leu) | |
| 1 | g.215743215A>C | CA344834706 | USH2A | c.11510T>G (p.Phe3837Cys) | |
| 1 | g.215743215A>G | CA344834707 | USH2A | c.11510T>C (p.Phe3837Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215743215A>T | CA344834708 | USH2A | c.11510T>A (p.Phe3837Tyr) | |
| 1 | g.215743216A>C | CA344834713 | USH2A | c.11509T>G (p.Phe3837Val) | gnomAD v4 |
| 1 | g.215743216A>G | CA344834718 | USH2A | c.11509T>C (p.Phe3837Leu) | |
| 1 | g.215743216A>T | CA344834721 | USH2A | c.11509T>A (p.Phe3837Ile) | |
| 1 | g.215743217T>A | CA423314617 | USH2A | c.11508A>T (p.Pro3836=) | |
| 1 | g.215743217T>C | CA423314618 | USH2A | c.11508A>G (p.Pro3836=) | gnomAD v3 gnomAD v4 |
| 1 | g.215743217T>G | CA423314619 | USH2A | c.11508A>C (p.Pro3836=) | |
| 1 | g.215743217_215743221delinsTGGAG | CA1220402675 | USH2A | c.11504_11508delinsCTCCA (p.Thr3835=) | |
| 1 | g.215743218G>A | CA344834732 | USH2A | c.11507C>T (p.Pro3836Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215743218G>C | CA344834731 | USH2A | c.11507C>G (p.Pro3836Arg) | |
| 1 | g.215743218G= | CA1220402676 | USH2A | c.11507C= (p.Pro3836=) | |
| 1 | g.215743218G>T | CA344834723 | USH2A | c.11507C>A (p.Pro3836Gln) | |
| 1 | g.215743218_215743221del | CA529002164 | USH2A | c.11504_11507del (p.Thr3835AsnfsTer7) | dbSNP gnomAD v2 |
| 1 | g.215743219G>A | CA1393696 | USH2A | c.11506C>T (p.Pro3836Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743219G>C | CA344834735 | USH2A | c.11506C>G (p.Pro3836Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215743219G= | CA1143832829 | USH2A | c.11506C= (p.Pro3836=) | |
| 1 | g.215743219G>T | CA344834745 | USH2A | c.11506C>A (p.Pro3836Thr) | gnomAD v4 |
| 1 | g.215743220A= | CA1220402677 | USH2A | c.11505T= (p.Thr3835=) | |
| 1 | g.215743220A>C | CA423314620 | USH2A | c.11505T>G (p.Thr3835=) | |
| 1 | g.215743220A>G | CA37406866 | USH2A | c.11505T>C (p.Thr3835=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743220A>T | CA423314621 | USH2A | c.11505T>A (p.Thr3835=) | |
| 1 | g.215743221G>A | CA143259 | USH2A | c.11504C>T (p.Thr3835Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215743221G>C | CA344834751 | USH2A | c.11504C>G (p.Thr3835Ser) | |
| 1 | g.215743221G= | CA1140236523 | USH2A | c.11504C= (p.Thr3835=) | |
| 1 | g.215743221G>T | CA344834752 | USH2A | c.11504C>A (p.Thr3835Asn) |