UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215798943_215798945del | CA1394179 | USH2A | c.9924_9926del (p.Gly3309del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215798944A= | CA1220425985 | USH2A | c.9921T= (p.Cys3307=) | |
| 1 | g.215798944A>C | CA16044155 | USH2A | c.9921T>G (p.Cys3307Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215798944A>G | CA423430213 | USH2A | c.9921T>C (p.Cys3307=) | |
| 1 | g.215798944A>T | CA344848408 | USH2A | c.9921T>A (p.Cys3307Ter) | |
| 1 | g.215798945C>A | CA344848411 | USH2A | c.9920G>T (p.Cys3307Phe) | ClinVar dbSNP |
| 1 | g.215798945C= | CA1220425988 | USH2A | c.9920G= (p.Cys3307=) | |
| 1 | g.215798945C>G | CA344848419 | USH2A | c.9920G>C (p.Cys3307Ser) | |
| 1 | g.215798945C>T | CA37448504 | USH2A | c.9920G>A (p.Cys3307Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215798946A= | CA1220425993 | USH2A | c.9919T= (p.Cys3307=) | |
| 1 | g.215798946A>C | CA344848441 | USH2A | c.9919T>G (p.Cys3307Gly) | |
| 1 | g.215798946A>G | CA344848426 | USH2A | c.9919T>C (p.Cys3307Arg) | COSMIC |
| 1 | g.215798946A>T | CA344848434 | USH2A | c.9919T>A (p.Cys3307Ser) | ClinVar dbSNP |
| 1 | g.215798947A>C | CA344848445 | USH2A | c.9918T>G (p.Cys3306Trp) | |
| 1 | g.215798947A>G | CA423430217 | USH2A | c.9918T>C (p.Cys3306=) | ClinVar gnomAD v4 |
| 1 | g.215798947A>T | CA344848448 | USH2A | c.9918T>A (p.Cys3306Ter) | |
| 1 | g.215798948C>A | CA344848465 | USH2A | c.9917G>T (p.Cys3306Phe) | |
| 1 | g.215798948C= | CA1220425994 | USH2A | c.9917G= (p.Cys3306=) | |
| 1 | g.215798948C>G | CA344848468 | USH2A | c.9917G>C (p.Cys3306Ser) | |
| 1 | g.215798948C>T | CA1394181 | USH2A | c.9917G>A (p.Cys3306Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215798949A>C | CA344848478 | USH2A | c.9916T>G (p.Cys3306Gly) | |
| 1 | g.215798949A>G | CA344848486 | USH2A | c.9916T>C (p.Cys3306Arg) | |
| 1 | g.215798949A>T | CA344848488 | USH2A | c.9916T>A (p.Cys3306Ser) | |
| 1 | g.215798949_215798951delinsACT | CA1220425996 | USH2A | c.9914_9916delinsAGT (p.Glu3305=) | |
| 1 | g.215798950C>A | CA344848495 | USH2A | c.9915G>T (p.Glu3305Asp) | |
| 1 | g.215798950C= | CA1142044010 | USH2A | c.9915G= (p.Glu3305=) | |
| 1 | g.215798950C>G | CA143674 | USH2A | c.9915G>C (p.Glu3305Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215798950C>T | CA423430224 | USH2A | c.9915G>A (p.Glu3305=) | |
| 1 | g.215798952_215798953del | CA529002309 | USH2A | c.9914_9915del (p.Glu3305ValfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215798951T>A | CA344848505 | USH2A | c.9914A>T (p.Glu3305Val) | |
| 1 | g.215798951T>C | CA344848509 | USH2A | c.9914A>G (p.Glu3305Gly) | gnomAD v4 |
| 1 | g.215798951T>G | CA37448510 | USH2A | c.9914A>C (p.Glu3305Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215798951T= | CA1220425999 | USH2A | c.9914A= (p.Glu3305=) | |
| 1 | g.215798952C>A | CA344848512 | USH2A | c.9913G>T (p.Glu3305Ter) | gnomAD v4 |
| 1 | g.215798952C= | CA1220426001 | USH2A | c.9913G= (p.Glu3305=) | |
| 1 | g.215798952C>G | CA1394183 | USH2A | c.9913G>C (p.Glu3305Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215798952C>T | CA344848521 | USH2A | c.9913G>A (p.Glu3305Lys) | dbSNP gnomAD v4 |
| 1 | g.215798953T>A | CA344848530 | USH2A | c.9912A>T (p.Leu3304Phe) | |
| 1 | g.215798953T>C | CA423430232 | USH2A | c.9912A>G (p.Leu3304=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215798953T>G | CA344848533 | USH2A | c.9912A>C (p.Leu3304Phe) | |
| 1 | g.215798953T= | CA1220426005 | USH2A | c.9912A= (p.Leu3304=) | |
| 1 | g.215798953dup | CA1394182 | USH2A | c.9912dup (p.Glu3305ArgfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215798954A>C | CA344848536 | USH2A | c.9911T>G (p.Leu3304Ter) | ClinVar |
| 1 | g.215798954A>G | CA344848552 | USH2A | c.9911T>C (p.Leu3304Ser) | |
| 1 | g.215798954A>T | CA344848550 | USH2A | c.9911T>A (p.Leu3304Ter) | |
| 1 | g.215798955A>C | CA344848567 | USH2A | c.9910T>G (p.Leu3304Val) | |
| 1 | g.215798955A>G | CA423430234 | USH2A | c.9910T>C (p.Leu3304=) | |
| 1 | g.215798955A>T | CA344848571 | USH2A | c.9910T>A (p.Leu3304Ile) | |
| 1 | g.215798956A>C | CA344848573 | USH2A | c.9909T>G (p.Asp3303Glu) | |
| 1 | g.215798956A>G | CA423430235 | USH2A | c.9909T>C (p.Asp3303=) | |
| 1 | g.215798956A>T | CA344848578 | USH2A | c.9909T>A (p.Asp3303Glu) | |
| 1 | g.215798957T>A | CA344848591 | USH2A | c.9908A>T (p.Asp3303Val) | |
| 1 | g.215798957T>C | CA344848588 | USH2A | c.9908A>G (p.Asp3303Gly) | |
| 1 | g.215798957T>G | CA344848585 | USH2A | c.9908A>C (p.Asp3303Ala) | |
| 1 | g.215798958C>A | CA344848597 | USH2A | c.9907G>T (p.Asp3303Tyr) | |
| 1 | g.215798958C= | CA1220426011 | USH2A | c.9907G= (p.Asp3303=) | |
| 1 | g.215798958C>G | CA344848601 | USH2A | c.9907G>C (p.Asp3303His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215798958C>T | CA344848605 | USH2A | c.9907G>A (p.Asp3303Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.215798959G>A | CA1394184 | USH2A | c.9906C>T (p.Asn3302=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215798959G>C | CA344848618 | USH2A | c.9906C>G (p.Asn3302Lys) | |
| 1 | g.215798959G= | CA1220426014 | USH2A | c.9906C= (p.Asn3302=) | |
| 1 | g.215798959G>T | CA344848623 | USH2A | c.9906C>A (p.Asn3302Lys) | |
| 1 | g.215798960T>A | CA344848636 | USH2A | c.9905A>T (p.Asn3302Ile) | |
| 1 | g.215798960T>C | CA344848628 | USH2A | c.9905A>G (p.Asn3302Ser) | |
| 1 | g.215798960T>G | CA344848633 | USH2A | c.9905A>C (p.Asn3302Thr) | |
| 1 | g.215798961T>A | CA344848642 | USH2A | c.9904A>T (p.Asn3302Tyr) | |
| 1 | g.215798961T>C | CA1394185 | USH2A | c.9904A>G (p.Asn3302Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215798961T>G | CA344848655 | USH2A | c.9904A>C (p.Asn3302His) | |
| 1 | g.215798961T= | CA1145050973 | USH2A | c.9904A= (p.Asn3302=) | |
| 1 | g.215798962G>A | CA423430239 | USH2A | c.9903C>T (p.Ser3301=) | |
| 1 | g.215798962G>C | CA344848667 | USH2A | c.9903C>G (p.Ser3301Arg) | gnomAD v4 |
| 1 | g.215798962G>T | CA344848668 | USH2A | c.9903C>A (p.Ser3301Arg) | gnomAD v4 |
| 1 | g.215798963C>A | CA344848674 | USH2A | c.9902G>T (p.Ser3301Ile) | |
| 1 | g.215798963C>G | CA344848679 | USH2A | c.9902G>C (p.Ser3301Thr) | |
| 1 | g.215798963C>T | CA344848678 | USH2A | c.9902G>A (p.Ser3301Asn) | |
| 1 | g.215798964T>A | CA344848691 | USH2A | c.9901A>T (p.Ser3301Cys) | |
| 1 | g.215798964T>C | CA344848696 | USH2A | c.9901A>G (p.Ser3301Gly) | |
| 1 | g.215798964T>G | CA344848698 | USH2A | c.9901A>C (p.Ser3301Arg) | |
| 1 | g.215798965C>A | CA423430240 | USH2A | c.9900G>T (p.Val3300=) | |
| 1 | g.215798965C>G | CA423430241 | USH2A | c.9900G>C (p.Val3300=) | |
| 1 | g.215798965C>T | CA423430242 | USH2A | c.9900G>A (p.Val3300=) | ClinVar dbSNP |
| 1 | g.215798967_215798968del | CA2650503219 | USH2A | c.9899_9900del (p.Val3300GlufsTer?) | gnomAD v4 |
| 1 | g.215798966A>C | CA344848704 | USH2A | c.9899T>G (p.Val3300Gly) | |
| 1 | g.215798966A>G | CA344848707 | USH2A | c.9899T>C (p.Val3300Ala) | |
| 1 | g.215798966A>T | CA344848710 | USH2A | c.9899T>A (p.Val3300Glu) | |
| 1 | g.215798967C>A | CA344848713 | USH2A | c.9898G>T (p.Val3300Leu) | COSMIC COSMIC |
| 1 | g.215798967C= | CA1220426025 | USH2A | c.9898G= (p.Val3300=) | |
| 1 | g.215798967C>G | CA344848715 | USH2A | c.9898G>C (p.Val3300Leu) | |
| 1 | g.215798967C>T | CA344848718 | USH2A | c.9898G>A (p.Val3300Met) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215798968A= | CA1148255721 | USH2A | c.9897T= (p.Ile3299=) | |
| 1 | g.215798968A>C | CA344848720 | USH2A | c.9897T>G (p.Ile3299Met) | |
| 1 | g.215798968A>G | CA423430247 | USH2A | c.9897T>C (p.Ile3299=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215798968A>T | CA1394186 | USH2A | c.9897T>A (p.Ile3299=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215798969A= | CA1220426031 | USH2A | c.9896T= (p.Ile3299=) | |
| 1 | g.215798969A>C | CA344848739 | USH2A | c.9896T>G (p.Ile3299Ser) | |
| 1 | g.215798969A>G | CA344848729 | USH2A | c.9896T>C (p.Ile3299Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215798969A>T | CA344848727 | USH2A | c.9896T>A (p.Ile3299Asn) | |
| 1 | g.215798970T>A | CA344848742 | USH2A | c.9895A>T (p.Ile3299Phe) | dbSNP gnomAD v4 |
| 1 | g.215798970T>C | CA344848748 | USH2A | c.9895A>G (p.Ile3299Val) | dbSNP |
| 1 | g.215798970T>G | CA344848745 | USH2A | c.9895A>C (p.Ile3299Leu) | |
| 1 | g.215798970T= | CA1220426035 | USH2A | c.9895A= (p.Ile3299=) | |
| 1 | g.215798971_215798972del | CA2695199994 | USH2A | c.9894_9895del (p.Gln3298HisfsTer?) | ClinVar |
| 1 | g.215798971C>A | CA344848750 | USH2A | c.9894G>T (p.Gln3298His) | gnomAD v4 |
| 1 | g.215798971C>G | CA344848751 | USH2A | c.9894G>C (p.Gln3298His) | |
| 1 | g.215798971C>T | CA423430251 | USH2A | c.9894G>A (p.Gln3298=) | |
| 1 | g.215798972T>A | CA344848755 | USH2A | c.9893A>T (p.Gln3298Leu) | gnomAD v4 |
| 1 | g.215798972T>C | CA344848765 | USH2A | c.9893A>G (p.Gln3298Arg) | |
| 1 | g.215798972T>G | CA344848767 | USH2A | c.9893A>C (p.Gln3298Pro) | |
| 1 | g.215798973G>A | CA344848769 | USH2A | c.9892C>T (p.Gln3298Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215798973G>C | CA344848782 | USH2A | c.9892C>G (p.Gln3298Glu) | gnomAD v4 |
| 1 | g.215798973G= | CA1220426039 | USH2A | c.9892C= (p.Gln3298=) | |
| 1 | g.215798973G>T | CA344848785 | USH2A | c.9892C>A (p.Gln3298Lys) | |
| 1 | g.215798974T>A | CA344848788 | USH2A | c.9891A>T (p.Arg3297Ser) | |
| 1 | g.215798974T>C | CA423430254 | USH2A | c.9891A>G (p.Arg3297=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215798974T>G | CA344848794 | USH2A | c.9891A>C (p.Arg3297Ser) | |
| 1 | g.215798975C>A | CA344848801 | USH2A | c.9890G>T (p.Arg3297Ile) | |
| 1 | g.215798975C>G | CA344848803 | USH2A | c.9890G>C (p.Arg3297Thr) | |
| 1 | g.215798975C>T | CA344848808 | USH2A | c.9890G>A (p.Arg3297Lys) | COSMIC COSMIC |
| 1 | g.215798976T>A | CA344848813 | USH2A | c.9889A>T (p.Arg3297Ter) | |
| 1 | g.215798976T>C | CA344848823 | USH2A | c.9889A>G (p.Arg3297Gly) | dbSNP |
| 1 | g.215798976T>G | CA423430258 | USH2A | c.9889A>C (p.Arg3297=) | |
| 1 | g.215798976T= | CA1220426041 | USH2A | c.9889A= (p.Arg3297=) | |
| 1 | g.215798977G>A | CA423430259 | USH2A | c.9888C>T (p.Gly3296=) | ClinVar |
| 1 | g.215798977G>C | CA423430260 | USH2A | c.9888C>G (p.Gly3296=) | |
| 1 | g.215798977G>T | CA423430261 | USH2A | c.9888C>A (p.Gly3296=) | |
| 1 | g.215798978C>A | CA344848835 | USH2A | c.9887G>T (p.Gly3296Val) | |
| 1 | g.215798978C= | CA1220426045 | USH2A | c.9887G= (p.Gly3296=) | |
| 1 | g.215798978C>G | CA344848830 | USH2A | c.9887G>C (p.Gly3296Ala) | |
| 1 | g.215798978C>T | CA344848826 | USH2A | c.9887G>A (p.Gly3296Asp) | dbSNP gnomAD v4 |
| 1 | g.215798979C>A | CA344848838 | USH2A | c.9886G>T (p.Gly3296Cys) | |
| 1 | g.215798979C= | CA1143776391 | USH2A | c.9886G= (p.Gly3296=) | |
| 1 | g.215798979C>G | CA344848841 | USH2A | c.9886G>C (p.Gly3296Arg) | |
| 1 | g.215798979C>T | CA1394187 | USH2A | c.9886G>A (p.Gly3296Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215798979_215798980insCCTTACCTGGAAGGCGATTGT | CA1220426052 | USH2A | c.9885_9886insACAATCGCCTTCCAGGTAAGG (p.Cys3295_Gly3296insThrIleAlaPheGlnValArg) | dbSNP |
| 1 | g.215798980A= | CA1220426053 | USH2A | c.9885T= (p.Cys3295=) | |
| 1 | g.215798980A>C | CA1394188 | USH2A | c.9885T>G (p.Cys3295Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215798980A>G | CA423430265 | USH2A | c.9885T>C (p.Cys3295=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215798980A>T | CA344848843 | USH2A | c.9885T>A (p.Cys3295Ter) | |
| 1 | g.215798981C>A | CA344848844 | USH2A | c.9884G>T (p.Cys3295Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215798981C= | CA1220426060 | USH2A | c.9884G= (p.Cys3295=) | |
| 1 | g.215798981C>G | CA344848845 | USH2A | c.9884G>C (p.Cys3295Ser) | |
| 1 | g.215798981C>T | CA344848848 | USH2A | c.9884G>A (p.Cys3295Tyr) | ClinVar dbSNP |
| 1 | g.215798982A>C | CA344848854 | USH2A | c.9883T>G (p.Cys3295Gly) | |
| 1 | g.215798982A>G | CA344848867 | USH2A | c.9883T>C (p.Cys3295Arg) | |
| 1 | g.215798982A>T | CA344848869 | USH2A | c.9883T>A (p.Cys3295Ser) | |
| 1 | g.215798983G>A | CA423430267 | USH2A | c.9882C>T (p.Cys3294=) | |
| 1 | g.215798983G>C | CA1394189 | USH2A | c.9882C>G (p.Cys3294Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215798983G= | CA1149074681 | USH2A | c.9882C= (p.Cys3294=) | |
| 1 | g.215798983G>T | CA344848873 | USH2A | c.9882C>A (p.Cys3294Ter) | |
| 1 | g.215798983_215798984insA | CA2573131592 | USH2A | c.9881_9882insT (p.Cys3295LeufsTer?) | ClinVar dbSNP |
| 1 | g.215798984C>A | CA344848876 | USH2A | c.9881G>T (p.Cys3294Phe) | ClinVar dbSNP |
| 1 | g.215798984C>G | CA344848879 | USH2A | c.9881G>C (p.Cys3294Ser) | |
| 1 | g.215798984C>T | CA344848874 | USH2A | c.9881G>A (p.Cys3294Tyr) | gnomAD v4 |
| 1 | g.215798985A= | CA1220426069 | USH2A | c.9880T= (p.Cys3294=) | |
| 1 | g.215798985A>C | CA344848882 | USH2A | c.9880T>G (p.Cys3294Gly) | |
| 1 | g.215798985A>G | CA344848884 | USH2A | c.9880T>C (p.Cys3294Arg) | |
| 1 | g.215798985A>T | CA1394190 | USH2A | c.9880T>A (p.Cys3294Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215798986C>A | CA344848891 | USH2A | c.9879G>T (p.Lys3293Asn) | |
| 1 | g.215798986C>G | CA344848894 | USH2A | c.9879G>C (p.Lys3293Asn) | |
| 1 | g.215798986C>T | CA423430272 | USH2A | c.9879G>A (p.Lys3293=) | ClinVar gnomAD v4 |
| 1 | g.215798987T>A | CA344848911 | USH2A | c.9878A>T (p.Lys3293Met) | |
| 1 | g.215798987T>C | CA344848915 | USH2A | c.9878A>G (p.Lys3293Arg) | |
| 1 | g.215798987T>G | CA344848918 | USH2A | c.9878A>C (p.Lys3293Thr) | gnomAD v4 |
| 1 | g.215798988del | CA2586968173 | USH2A | c.9878del (p.Lys3293SerfsTer8) | |
| 1 | g.215798988T>A | CA344848938 | USH2A | c.9877A>T (p.Lys3293Ter) | |
| 1 | g.215798988T>C | CA344848940 | USH2A | c.9877A>G (p.Lys3293Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215798988T>G | CA344848942 | USH2A | c.9877A>C (p.Lys3293Gln) | |
| 1 | g.215798988T= | CA1220426075 | USH2A | c.9877A= (p.Lys3293=) | |
| 1 | g.215798989C>A | CA344848968 | USH2A | c.9876G>T (p.Gln3292His) | |
| 1 | g.215798989C= | CA1144082070 | USH2A | c.9876G= (p.Gln3292=) | |
| 1 | g.215798989C>G | CA344848949 | USH2A | c.9876G>C (p.Gln3292His) | |
| 1 | g.215798989C>T | CA1394191 | USH2A | c.9876G>A (p.Gln3292=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215798990T>A | CA344848977 | USH2A | c.9875A>T (p.Gln3292Leu) | |
| 1 | g.215798990T>C | CA344848982 | USH2A | c.9875A>G (p.Gln3292Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215798990T>G | CA344848984 | USH2A | c.9875A>C (p.Gln3292Pro) | |
| 1 | g.215798990T= | CA1220426080 | USH2A | c.9875A= (p.Gln3292=) | |
| 1 | g.215798990_215799005del | CA2586968174 | USH2A | c.9860_9875del (p.His3287ArgfsTer9) | |
| 1 | g.215798991G>A | CA344848988 | USH2A | c.9874C>T (p.Gln3292Ter) | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.215798991G>C | CA344848991 | USH2A | c.9874C>G (p.Gln3292Glu) | |
| 1 | g.215798991G>T | CA344848994 | USH2A | c.9874C>A (p.Gln3292Lys) | COSMIC COSMIC |
| 1 | g.215798991_215799005delinsGGCCATGGCCATCAT | CA1220426083 | USH2A | c.9860_9874delinsATGATGGCCATGGCC (p.His3287=) | |
| 1 | g.215798992G>A | CA423430278 | USH2A | c.9873C>T (p.Gly3291=) | |
| 1 | g.215798992G>C | CA423430279 | USH2A | c.9873C>G (p.Gly3291=) | |
| 1 | g.215798992G>T | CA423430281 | USH2A | c.9873C>A (p.Gly3291=) | gnomAD v4 |
| 1 | g.215798993_215799006del | CA529002310 | USH2A | c.9860_9873del (p.His3287ProfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215798993C>A | CA344848997 | USH2A | c.9872G>T (p.Gly3291Val) | |
| 1 | g.215798993C>G | CA344848998 | USH2A | c.9872G>C (p.Gly3291Ala) | |
| 1 | g.215798993C>T | CA344848999 | USH2A | c.9872G>A (p.Gly3291Asp) | |
| 1 | g.215798994C>A | CA344849002 | USH2A | c.9871G>T (p.Gly3291Cys) | |
| 1 | g.215798994C= | CA1141623927 | USH2A | c.9871G= (p.Gly3291=) | |
| 1 | g.215798994C>G | CA1394193 | USH2A | c.9871G>C (p.Gly3291Arg) | dbSNP ExAC gnomAD v2 |
| 1 | g.215798994C>T | CA1394192 | USH2A | c.9871G>A (p.Gly3291Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215798995A= | CA1220426097 | USH2A | c.9870T= (p.His3290=) | |
| 1 | g.215798995A>C | CA344849020 | USH2A | c.9870T>G (p.His3290Gln) | |
| 1 | g.215798995A>G | CA1394194 | USH2A | c.9870T>C (p.His3290=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215798995A>T | CA344849014 | USH2A | c.9870T>A (p.His3290Gln) | |
| 1 | g.215798996T>A | CA344849023 | USH2A | c.9869A>T (p.His3290Leu) | |
| 1 | g.215798996T>C | CA344849026 | USH2A | c.9869A>G (p.His3290Arg) | |
| 1 | g.215798996T>G | CA344849028 | USH2A | c.9869A>C (p.His3290Pro) | |
| 1 | g.215798997G>A | CA344849036 | USH2A | c.9868C>T (p.His3290Tyr) | dbSNP |
| 1 | g.215798997G>C | CA344849038 | USH2A | c.9868C>G (p.His3290Asp) | COSMIC COSMIC |
| 1 | g.215798997G= | CA1220426100 | USH2A | c.9868C= (p.His3290=) | |
| 1 | g.215798997G>T | CA344849040 | USH2A | c.9868C>A (p.His3290Asn) | |
| 1 | g.215798998G>A | CA1394195 | USH2A | c.9867C>T (p.Gly3289=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215798998G>C | CA423430287 | USH2A | c.9867C>G (p.Gly3289=) | gnomAD v4 |
| 1 | g.215798998G= | CA1142077721 | USH2A | c.9867C= (p.Gly3289=) | |
| 1 | g.215798998G>T | CA423430286 | USH2A | c.9867C>A (p.Gly3289=) | COSMIC COSMIC |
| 1 | g.215798999C>A | CA344849054 | USH2A | c.9866G>T (p.Gly3289Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215798999C= | CA1220426109 | USH2A | c.9866G= (p.Gly3289=) | |
| 1 | g.215798999C>G | CA344849047 | USH2A | c.9866G>C (p.Gly3289Ala) | |
| 1 | g.215798999C>T | CA37448566 | USH2A | c.9866G>A (p.Gly3289Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215799000C>A | CA344849057 | USH2A | c.9865G>T (p.Gly3289Cys) | |
| 1 | g.215799000C>G | CA344849059 | USH2A | c.9865G>C (p.Gly3289Arg) | |
| 1 | g.215799000C>T | CA344849062 | USH2A | c.9865G>A (p.Gly3289Ser) | gnomAD v4 |
| 1 | g.215799001A= | CA1220426113 | USH2A | c.9864T= (p.Asp3288=) | |
| 1 | g.215799001A>C | CA344849069 | USH2A | c.9864T>G (p.Asp3288Glu) | |
| 1 | g.215799001A>G | CA423430291 | USH2A | c.9864T>C (p.Asp3288=) | |
| 1 | g.215799001A>T | CA344849070 | USH2A | c.9864T>A (p.Asp3288Glu) | dbSNP gnomAD v4 |
| 1 | g.215799002T>A | CA344849071 | USH2A | c.9863A>T (p.Asp3288Val) | |
| 1 | g.215799002T>C | CA344849080 | USH2A | c.9863A>G (p.Asp3288Gly) | |
| 1 | g.215799002T>G | CA344849075 | USH2A | c.9863A>C (p.Asp3288Ala) | |
| 1 | g.215799003C>A | CA344849085 | USH2A | c.9862G>T (p.Asp3288Tyr) | dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.215799003C= | CA1220426118 | USH2A | c.9862G= (p.Asp3288=) | |
| 1 | g.215799003C>G | CA344849089 | USH2A | c.9862G>C (p.Asp3288His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215799003C>T | CA344849090 | USH2A | c.9862G>A (p.Asp3288Asn) | COSMIC COSMIC |
| 1 | g.215799004A>C | CA344849091 | USH2A | c.9861T>G (p.His3287Gln) | |
| 1 | g.215799004A>G | CA423430294 | USH2A | c.9861T>C (p.His3287=) | ClinVar dbSNP |
| 1 | g.215799004A>T | CA344849093 | USH2A | c.9861T>A (p.His3287Gln) | |
| 1 | g.215799005T>A | CA344849094 | USH2A | c.9860A>T (p.His3287Leu) | |
| 1 | g.215799005T>C | CA344849096 | USH2A | c.9860A>G (p.His3287Arg) | |
| 1 | g.215799005T>G | CA344849100 | USH2A | c.9860A>C (p.His3287Pro) | gnomAD v4 |
| 1 | g.215799006G>A | CA344849104 | USH2A | c.9859C>T (p.His3287Tyr) | gnomAD v4 |
| 1 | g.215799006G>C | CA344849106 | USH2A | c.9859C>G (p.His3287Asp) | |
| 1 | g.215799006G>T | CA344849109 | USH2A | c.9859C>A (p.His3287Asn) | |
| 1 | g.215799007A>C | CA423430297 | USH2A | c.9858T>G (p.Leu3286=) | ClinVar |
| 1 | g.215799007A>G | CA423430299 | USH2A | c.9858T>C (p.Leu3286=) | |
| 1 | g.215799007A>T | CA423430300 | USH2A | c.9858T>A (p.Leu3286=) | |
| 1 | g.215799008A>C | CA344849110 | USH2A | c.9857T>G (p.Leu3286Arg) | |
| 1 | g.215799008A>G | CA344849114 | USH2A | c.9857T>C (p.Leu3286Pro) | ClinVar dbSNP |
| 1 | g.215799008A>T | CA344849111 | USH2A | c.9857T>A (p.Leu3286His) | |
| 1 | g.215799009G>A | CA344849120 | USH2A | c.9856C>T (p.Leu3286Phe) | |
| 1 | g.215799009G>C | CA344849124 | USH2A | c.9856C>G (p.Leu3286Val) | |
| 1 | g.215799009G>T | CA344849127 | USH2A | c.9856C>A (p.Leu3286Ile) | |
| 1 | g.215799010C>A | CA344849129 | USH2A | c.9855G>T (p.Arg3285Ser) | |
| 1 | g.215799010C>G | CA344849131 | USH2A | c.9855G>C (p.Arg3285Ser) | |
| 1 | g.215799010C>T | CA423430302 | USH2A | c.9855G>A (p.Arg3285=) | |
| 1 | g.215799011del | CA2586968177 | USH2A | c.9855del (p.Arg3285SerfsTer16) | |
| 1 | g.215799011C>A | CA344849134 | USH2A | c.9854G>T (p.Arg3285Met) | |
| 1 | g.215799011C>G | CA344849138 | USH2A | c.9854G>C (p.Arg3285Thr) | |
| 1 | g.215799011C>T | CA344849140 | USH2A | c.9854G>A (p.Arg3285Lys) | |
| 1 | g.215799012T>A | CA344849143 | USH2A | c.9853A>T (p.Arg3285Trp) | |
| 1 | g.215799012T>C | CA344849145 | USH2A | c.9853A>G (p.Arg3285Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215799012T>G | CA423430305 | USH2A | c.9853A>C (p.Arg3285=) | gnomAD v4 |
| 1 | g.215799012T= | CA1220426124 | USH2A | c.9853A= (p.Arg3285=) | |
| 1 | g.215799013C>A | CA423430307 | USH2A | c.9852G>T (p.Gly3284=) | |
| 1 | g.215799013C>G | CA423430308 | USH2A | c.9852G>C (p.Gly3284=) | |
| 1 | g.215799013C>T | CA423430309 | USH2A | c.9852G>A (p.Gly3284=) | |
| 1 | g.215799015del | CA2586968178 | USH2A | c.9852del (p.Arg3285GlyfsTer16) | |
| 1 | g.215799014C>A | CA344849149 | USH2A | c.9851G>T (p.Gly3284Val) | |
| 1 | g.215799014C= | CA1220426127 | USH2A | c.9851G= (p.Gly3284=) | |
| 1 | g.215799014C>G | CA344849151 | USH2A | c.9851G>C (p.Gly3284Ala) | |
| 1 | g.215799014C>T | CA37448574 | USH2A | c.9851G>A (p.Gly3284Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799015C>A | CA344849163 | USH2A | c.9850G>T (p.Gly3284Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215799015C= | CA1220426131 | USH2A | c.9850G= (p.Gly3284=) | |
| 1 | g.215799015C>G | CA344849177 | USH2A | c.9850G>C (p.Gly3284Arg) | dbSNP |
| 1 | g.215799015C>T | CA344849174 | USH2A | c.9850G>A (p.Gly3284Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799016A>C | CA423430312 | USH2A | c.9849T>G (p.Ala3283=) | |
| 1 | g.215799016A>G | CA423430313 | USH2A | c.9849T>C (p.Ala3283=) | |
| 1 | g.215799016A>T | CA423430314 | USH2A | c.9849T>A (p.Ala3283=) | |
| 1 | g.215799017G>A | CA344849182 | USH2A | c.9848C>T (p.Ala3283Val) | dbSNP |
| 1 | g.215799017G>C | CA344849185 | USH2A | c.9848C>G (p.Ala3283Gly) | |
| 1 | g.215799017G= | CA1220426134 | USH2A | c.9848C= (p.Ala3283=) | |
| 1 | g.215799017G>T | CA344849192 | USH2A | c.9848C>A (p.Ala3283Asp) | |
| 1 | g.215799018C>A | CA1394196 | USH2A | c.9847G>T (p.Ala3283Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215799018C= | CA1220426138 | USH2A | c.9847G= (p.Ala3283=) | |
| 1 | g.215799018C>G | CA344849198 | USH2A | c.9847G>C (p.Ala3283Pro) | |
| 1 | g.215799018C>T | CA344849202 | USH2A | c.9847G>A (p.Ala3283Thr) | |
| 1 | g.215799019A>C | CA344849205 | USH2A | c.9846T>G (p.Cys3282Trp) | |
| 1 | g.215799019A>G | CA423430318 | USH2A | c.9846T>C (p.Cys3282=) | COSMIC |
| 1 | g.215799019A>T | CA344849206 | USH2A | c.9846T>A (p.Cys3282Ter) | ClinVar |
| 1 | g.215799020C>A | CA344849207 | USH2A | c.9845G>T (p.Cys3282Phe) | |
| 1 | g.215799020C>G | CA344849210 | USH2A | c.9845G>C (p.Cys3282Ser) | |
| 1 | g.215799020C>T | CA344849212 | USH2A | c.9845G>A (p.Cys3282Tyr) | |
| 1 | g.215799021A>C | CA344849228 | USH2A | c.9844T>G (p.Cys3282Gly) | |
| 1 | g.215799021A>G | CA344849222 | USH2A | c.9844T>C (p.Cys3282Arg) | |
| 1 | g.215799021A>T | CA344849217 | USH2A | c.9844T>A (p.Cys3282Ser) | |
| 1 | g.215799022G>A | CA423430320 | USH2A | c.9843C>T (p.Cys3281=) | |
| 1 | g.215799022G>C | CA344849241 | USH2A | c.9843C>G (p.Cys3281Trp) | |
| 1 | g.215799022G>T | CA344849232 | USH2A | c.9843C>A (p.Cys3281Ter) | |
| 1 | g.215799023C>A | CA183787 | USH2A | c.9842G>T (p.Cys3281Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799023C= | CA1148224976 | USH2A | c.9842G= (p.Cys3281=) | |
| 1 | g.215799023C>G | CA344849247 | USH2A | c.9842G>C (p.Cys3281Ser) | |
| 1 | g.215799023C>T | CA344849269 | USH2A | c.9842G>A (p.Cys3281Tyr) | |
| 1 | g.215799024A>C | CA344849274 | USH2A | c.9841T>G (p.Cys3281Gly) | |
| 1 | g.215799024A>G | CA344849280 | USH2A | c.9841T>C (p.Cys3281Arg) | |
| 1 | g.215799024A>T | CA344849284 | USH2A | c.9841T>A (p.Cys3281Ser) | |
| 1 | g.215799025A>C | CA344849289 | USH2A | c.9840T>G (p.Ile3280Met) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215799025A>G | CA423430323 | USH2A | c.9840T>C (p.Ile3280=) | |
| 1 | g.215799025A>T | CA423430324 | USH2A | c.9840T>A (p.Ile3280=) | |
| 1 | g.215799026A>C | CA344849294 | USH2A | c.9839T>G (p.Ile3280Ser) | |
| 1 | g.215799026A>G | CA344849299 | USH2A | c.9839T>C (p.Ile3280Thr) | |
| 1 | g.215799026A>T | CA344849303 | USH2A | c.9839T>A (p.Ile3280Asn) | |
| 1 | g.215799027T>A | CA344849307 | USH2A | c.9838A>T (p.Ile3280Phe) | |
| 1 | g.215799027T>C | CA344849315 | USH2A | c.9838A>G (p.Ile3280Val) | |
| 1 | g.215799027T>G | CA344849319 | USH2A | c.9838A>C (p.Ile3280Leu) | |
| 1 | g.215799028C>A | CA344849324 | USH2A | c.9837G>T (p.Gln3279His) | |
| 1 | g.215799028C>G | CA344849327 | USH2A | c.9837G>C (p.Gln3279His) | |
| 1 | g.215799028C>T | CA423430327 | USH2A | c.9837G>A (p.Gln3279=) | |
| 1 | g.215799029T>A | CA344849348 | USH2A | c.9836A>T (p.Gln3279Leu) | |
| 1 | g.215799029T>C | CA344849339 | USH2A | c.9836A>G (p.Gln3279Arg) | dbSNP |
| 1 | g.215799029T>G | CA344849342 | USH2A | c.9836A>C (p.Gln3279Pro) | |
| 1 | g.215799029T= | CA1220426144 | USH2A | c.9836A= (p.Gln3279=) | |
| 1 | g.215799030G>A | CA344849352 | USH2A | c.9835C>T (p.Gln3279Ter) | |
| 1 | g.215799030G>C | CA344849355 | USH2A | c.9835C>G (p.Gln3279Glu) | |
| 1 | g.215799030G>T | CA344849359 | USH2A | c.9835C>A (p.Gln3279Lys) | gnomAD v4 |
| 1 | g.215799031G>A | CA423430329 | USH2A | c.9834C>T (p.Asn3278=) | dbSNP |
| 1 | g.215799031G>C | CA344849363 | USH2A | c.9834C>G (p.Asn3278Lys) | |
| 1 | g.215799031G= | CA1220426153 | USH2A | c.9834C= (p.Asn3278=) | |
| 1 | g.215799031G>T | CA37448586 | USH2A | c.9834C>A (p.Asn3278Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215799032T>A | CA344849370 | USH2A | c.9833A>T (p.Asn3278Ile) | |
| 1 | g.215799032T>C | CA344849371 | USH2A | c.9833A>G (p.Asn3278Ser) | gnomAD v4 |
| 1 | g.215799032T>G | CA344849373 | USH2A | c.9833A>C (p.Asn3278Thr) | |
| 1 | g.215799034del | CA2739275631 | USH2A | c.9833del (p.Asn3278ThrfsTer23) | ClinVar |
| 1 | g.215799033T>A | CA344849375 | USH2A | c.9832A>T (p.Asn3278Tyr) | |
| 1 | g.215799033T>C | CA344849377 | USH2A | c.9832A>G (p.Asn3278Asp) | |
| 1 | g.215799033T>G | CA344849378 | USH2A | c.9832A>C (p.Asn3278His) | |
| 1 | g.215799034T>A | CA423430334 | USH2A | c.9831A>T (p.Gly3277=) | |
| 1 | g.215799034T>C | CA423430333 | USH2A | c.9831A>G (p.Gly3277=) | |
| 1 | g.215799034T>G | CA423430332 | USH2A | c.9831A>C (p.Gly3277=) | |
| 1 | g.215799035C>A | CA344849394 | USH2A | c.9830G>T (p.Gly3277Val) | |
| 1 | g.215799035C>G | CA344849395 | USH2A | c.9830G>C (p.Gly3277Ala) | |
| 1 | g.215799035C>T | CA344849392 | USH2A | c.9830G>A (p.Gly3277Glu) | |
| 1 | g.215799036C>A | CA344849396 | USH2A | c.9829G>T (p.Gly3277Ter) | |
| 1 | g.215799036C= | CA1220426157 | USH2A | c.9829G= (p.Gly3277=) | |
| 1 | g.215799036C>G | CA344849397 | USH2A | c.9829G>C (p.Gly3277Arg) | |
| 1 | g.215799036C>T | CA1394197 | USH2A | c.9829G>A (p.Gly3277Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215799037T>A | CA423430336 | USH2A | c.9828A>T (p.Ser3276=) | |
| 1 | g.215799037T>C | CA423430337 | USH2A | c.9828A>G (p.Ser3276=) | |
| 1 | g.215799037T>G | CA423430338 | USH2A | c.9828A>C (p.Ser3276=) | |
| 1 | g.215799038G>A | CA344849412 | USH2A | c.9827C>T (p.Ser3276Leu) | |
| 1 | g.215799038G>C | CA279037 | USH2A | c.9827C>G (p.Ser3276Ter) | ClinVar dbSNP |
| 1 | g.215799038G= | CA1220426164 | USH2A | c.9827C= (p.Ser3276=) | |
| 1 | g.215799038G>T | CA344849421 | USH2A | c.9827C>A (p.Ser3276Ter) | ClinVar dbSNP |
| 1 | g.215799039A>C | CA344849425 | USH2A | c.9826T>G (p.Ser3276Ala) | |
| 1 | g.215799039A>G | CA344849429 | USH2A | c.9826T>C (p.Ser3276Pro) | |
| 1 | g.215799039A>T | CA344849430 | USH2A | c.9826T>A (p.Ser3276Thr) | |
| 1 | g.215799040G>A | CA423430342 | USH2A | c.9825C>T (p.Thr3275=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215799040G>C | CA423430343 | USH2A | c.9825C>G (p.Thr3275=) | |
| 1 | g.215799040G= | CA1220426168 | USH2A | c.9825C= (p.Thr3275=) | |
| 1 | g.215799040G>T | CA423430344 | USH2A | c.9825C>A (p.Thr3275=) | |
| 1 | g.215799041G>A | CA344849431 | USH2A | c.9824C>T (p.Thr3275Ile) | |
| 1 | g.215799041G>C | CA344849432 | USH2A | c.9824C>G (p.Thr3275Ser) | |
| 1 | g.215799041G>T | CA344849435 | USH2A | c.9824C>A (p.Thr3275Asn) | |
| 1 | g.215799042T>A | CA344849440 | USH2A | c.9823A>T (p.Thr3275Ser) | dbSNP |
| 1 | g.215799042T>C | CA344849444 | USH2A | c.9823A>G (p.Thr3275Ala) | |
| 1 | g.215799042T>G | CA344849438 | USH2A | c.9823A>C (p.Thr3275Pro) | |
| 1 | g.215799042T= | CA1220426171 | USH2A | c.9823A= (p.Thr3275=) | |
| 1 | g.215799043G>A | CA423430352 | USH2A | c.9822C>T (p.Ser3274=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799043G>C | CA423430353 | USH2A | c.9822C>G (p.Ser3274=) | |
| 1 | g.215799043G= | CA1220426174 | USH2A | c.9822C= (p.Ser3274=) | |
| 1 | g.215799043G>T | CA423430354 | USH2A | c.9822C>A (p.Ser3274=) | dbSNP |
| 1 | g.215799044G>A | CA344849450 | USH2A | c.9821C>T (p.Ser3274Phe) | |
| 1 | g.215799044G>C | CA344849453 | USH2A | c.9821C>G (p.Ser3274Cys) | |
| 1 | g.215799044G>T | CA344849456 | USH2A | c.9821C>A (p.Ser3274Tyr) | COSMIC COSMIC |