1 | g.215878690G>C | CA1220461390 | USH2A | c.8558+74C>G (n.8558+74C>G)
| dbSNP gnomAD v4 |
1 | g.215878690G= | CA1220461389 | USH2A | c.8558+74C= (n.8558+74C=)
| |
1 | g.215878690G>T | CA2574133222 | USH2A | c.8558+74C>A (n.8558+74C>A)
| gnomAD v4 |
1 | g.215878691C>A | CA2650505109 | USH2A | c.8558+73G>T (n.8558+73G>T)
| gnomAD v4 |
1 | g.215878692C>G | CA2650505110 | USH2A | c.8558+72G>C (n.8558+72G>C)
| gnomAD v4 |
1 | g.215878692C>T | CA2650505111 | USH2A | c.8558+72G>A (n.8558+72G>A)
| gnomAD v4 |
1 | g.215878693T>C | CA2650505112 | USH2A | c.8558+71A>G (n.8558+71A>G)
| gnomAD v4 |
1 | g.215878693T>G | CA2650505113 | USH2A | c.8558+71A>C (n.8558+71A>C)
| gnomAD v4 |
1 | g.215878694C>A | CA2574133223 | USH2A | c.8558+70G>T (n.8558+70G>T)
| |
1 | g.215878694C= | CA1147666372 | USH2A | c.8558+70G= (n.8558+70G=)
| |
1 | g.215878694C>G | CA2650505114 | USH2A | c.8558+70G>C (n.8558+70G>C)
| gnomAD v4 |
1 | g.215878694C>T | CA37433724 | USH2A | c.8558+70G>A (n.8558+70G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215878698C>T | CA2650505115 | USH2A | c.8558+66G>A (n.8558+66G>A)
| gnomAD v4 |
1 | g.215878699A>G | CA2650505116 | USH2A | c.8558+65T>C (n.8558+65T>C)
| gnomAD v4 |
1 | g.215878700T>C | CA2650505117 | USH2A | c.8558+64A>G (n.8558+64A>G)
| gnomAD v4 |
1 | g.215878703C>A | CA2650505118 | USH2A | c.8558+61G>T (n.8558+61G>T)
| dbSNP gnomAD v4 |
1 | g.215878705C>G | CA2650505119 | USH2A | c.8558+59G>C (n.8558+59G>C)
| gnomAD v4 |
1 | g.215878705C>T | CA2650505120 | USH2A | c.8558+59G>A (n.8558+59G>A)
| gnomAD v4 |
1 | g.215878706T>C | CA37433731 | USH2A | c.8558+58A>G (n.8558+58A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215878706T>G | CA2607171228 | USH2A | c.8558+58A>C (n.8558+58A>C)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215878706T= | CA1220461392 | USH2A | c.8558+58A= (n.8558+58A=)
| |
1 | g.215878707A= | CA1220461394 | USH2A | c.8558+57T= (n.8558+57T=)
| |
1 | g.215878707A>G | CA1220461396 | USH2A | c.8558+57T>C (n.8558+57T>C)
| dbSNP gnomAD v4 |
1 | g.215878707A>T | CA529002419 | USH2A | c.8558+57T>A (n.8558+57T>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215878708C>A | CA2650505121 | USH2A | c.8558+56G>T (n.8558+56G>T)
| gnomAD v4 |
1 | g.215878708C>G | CA2650505123 | USH2A | c.8558+56G>C (n.8558+56G>C)
| gnomAD v4 |
1 | g.215878708C>T | CA2650505122 | USH2A | c.8558+56G>A (n.8558+56G>A)
| gnomAD v4 |
1 | g.215878712T>C | CA1220461399 | USH2A | c.8558+52A>G (n.8558+52A>G)
| dbSNP gnomAD v4 |
1 | g.215878712T= | CA1220461398 | USH2A | c.8558+52A= (n.8558+52A=)
| |
1 | g.215878713C= | CA1220461400 | USH2A | c.8558+51G= (n.8558+51G=)
| |
1 | g.215878713C>T | CA1394577 | USH2A | c.8558+51G>A (n.8558+51G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215878714A= | CA1220461402 | USH2A | c.8558+50T= (n.8558+50T=)
| |
1 | g.215878714A>G | CA529002420 | USH2A | c.8558+50T>C (n.8558+50T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215878714A>T | CA2650505124 | USH2A | c.8558+50T>A (n.8558+50T>A)
| gnomAD v4 |
1 | g.215878715G>A | CA731392499 | USH2A | c.8558+49C>T (n.8558+49C>T)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215878715G= | CA1220461404 | USH2A | c.8558+49C= (n.8558+49C=)
| |
1 | g.215878717G>T | CA2574133224 | USH2A | c.8558+47C>A (n.8558+47C>A)
| |
1 | g.215878718A>G | CA2747724801 | USH2A | c.8558+46T>C (n.8558+46T>C)
| |
1 | g.215878720A= | CA1220461405 | USH2A | c.8558+44T= (n.8558+44T=)
| |
1 | g.215878720A>G | CA1394578 | USH2A | c.8558+44T>C (n.8558+44T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215878721T>A | CA1394580 | USH2A | c.8558+43A>T (n.8558+43A>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215878721T>C | CA1394579 | USH2A | c.8558+43A>G (n.8558+43A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215878721T= | CA1144791281 | USH2A | c.8558+43A= (n.8558+43A=)
| |
1 | g.215878724G>A | CA2581739360 | USH2A | c.8558+40C>T (n.8558+40C>T)
| |
1 | g.215878724G>C | CA2581739361 | USH2A | c.8558+40C>G (n.8558+40C>G)
| |
1 | g.215878724G= | CA1140619872 | USH2A | c.8558+40C= (n.8558+40C=)
| |
1 | g.215878724G>T | CA1394581 | USH2A | c.8558+40C>A (n.8558+40C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215878725G>C | CA2747724802 | USH2A | c.8558+39C>G (n.8558+39C>G)
| |
1 | g.215878725G= | CA1220461409 | USH2A | c.8558+39C= (n.8558+39C=)
| |
1 | g.215878725G>T | CA1394582 | USH2A | c.8558+39C>A (n.8558+39C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215878727C>T | CA2747724803 | USH2A | c.8558+37G>A (n.8558+37G>A)
| |
1 | g.215878728T>C | CA1394583 | USH2A | c.8558+36A>G (n.8558+36A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215878728T= | CA1220461411 | USH2A | c.8558+36A= (n.8558+36A=)
| |
1 | g.215878729A= | CA1220461413 | USH2A | c.8558+35T= (n.8558+35T=)
| |
1 | g.215878729A>G | CA731392504 | USH2A | c.8558+35T>C (n.8558+35T>C)
| dbSNP |
1 | g.215878730del | CA2650505125 | USH2A | c.8558+34del (n.8558+34del)
| gnomAD v4 |
1 | g.215878730C>T | CA2650505126 | USH2A | c.8558+34G>A (n.8558+34G>A)
| dbSNP gnomAD v4 |
1 | g.215878732G>T | CA2574133225 | USH2A | c.8558+32C>A (n.8558+32C>A)
| gnomAD v4 |
1 | g.215878734A>T | CA2747724804 | USH2A | c.8558+30T>A (n.8558+30T>A)
| |
1 | g.215878735A= | CA1220461415 | USH2A | c.8558+29T= (n.8558+29T=)
| |
1 | g.215878735A>T | CA1012207310 | USH2A | c.8558+29T>A (n.8558+29T>A)
| dbSNP |
1 | g.215878738T>A | CA2650505127 | USH2A | c.8558+26A>T (n.8558+26A>T)
| gnomAD v4 |
1 | g.215878738T>C | CA2650505128 | USH2A | c.8558+26A>G (n.8558+26A>G)
| gnomAD v4 |
1 | g.215878738T>G | CA2697983042 | USH2A | c.8558+26A>C (n.8558+26A>C)
| dbSNP |
1 | g.215878738T= | CA1220461416 | USH2A | c.8558+26A= (n.8558+26A=)
| |
1 | g.215878739A= | CA1220461418 | USH2A | c.8558+25T= (n.8558+25T=)
| |
1 | g.215878739A>G | CA37433761 | USH2A | c.8558+25T>C (n.8558+25T>C)
| dbSNP |
1 | g.215878743dup | CA1394584 | USH2A | c.8558+25dup (n.8558+25dup)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215878741A>C | CA2650505129 | USH2A | c.8558+23T>G (n.8558+23T>G)
| gnomAD v4 |
1 | g.215878742A>C | CA2574133226 | USH2A | c.8558+22T>G (n.8558+22T>G)
| gnomAD v4 |
1 | g.215878742A>T | CA2650505130 | USH2A | c.8558+22T>A (n.8558+22T>A)
| gnomAD v4 |
1 | g.215878743A= | CA1220461421 | USH2A | c.8558+21T= (n.8558+21T=)
| |
1 | g.215878743A>C | CA529002421 | USH2A | c.8558+21T>G (n.8558+21T>G)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215878744T>A | CA2573130636 | USH2A | c.8558+20A>T (n.8558+20A>T)
| ClinVar dbSNP gnomAD v4 |
1 | g.215878744T>C | CA2650505131 | USH2A | c.8558+20A>G (n.8558+20A>G)
| gnomAD v4 |
1 | g.215878745C>A | CA37433768 | USH2A | c.8558+19G>T (n.8558+19G>T)
| dbSNP |
1 | g.215878745C= | CA1220461423 | USH2A | c.8558+19G= (n.8558+19G=)
| |
1 | g.215878745C>T | CA1394585 | USH2A | c.8558+19G>A (n.8558+19G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215878746A= | CA1220461428 | USH2A | c.8558+18T= (n.8558+18T=)
| |
1 | g.215878746A>G | CA529002422 | USH2A | c.8558+18T>C (n.8558+18T>C)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215878747T>C | CA1220461433 | USH2A | c.8558+17A>G (n.8558+17A>G)
| ClinVar dbSNP gnomAD v4 |
1 | g.215878747T= | CA1220461431 | USH2A | c.8558+17A= (n.8558+17A=)
| |
1 | g.215878748A= | CA1220461436 | USH2A | c.8558+16T= (n.8558+16T=)
| |
1 | g.215878748A>G | CA529002423 | USH2A | c.8558+16T>C (n.8558+16T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215878750T>A | CA529002424 | USH2A | c.8558+14A>T (n.8558+14A>T)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215878750T>G | CA1220461440 | USH2A | c.8558+14A>C (n.8558+14A>C)
| dbSNP |
1 | g.215878750T= | CA1220461439 | USH2A | c.8558+14A= (n.8558+14A=)
| |
1 | g.215878753C= | CA1220461442 | USH2A | c.8558+11G= (n.8558+11G=)
| |
1 | g.215878753C>T | CA1220461443 | USH2A | c.8558+11G>A (n.8558+11G>A)
| dbSNP gnomAD v4 |
1 | g.215878753_215878756delinsCCTT | CA1220461441 | USH2A | c.8558+8_8558+11delinsAAGG (n.8558+8_8558+11delinsAAGG)
| |
1 | g.215878754C>A | CA731392515 | USH2A | c.8558+10G>T (n.8558+10G>T)
| dbSNP |
1 | g.215878754C= | CA1220461446 | USH2A | c.8558+10G= (n.8558+10G=)
| |
1 | g.215878754C>T | CA645523116 | USH2A | c.8558+10G>A (n.8558+10G>A)
| ClinVar gnomAD v4 COSMIC COSMIC |
1 | g.215878756_215878758del | CA1394586 | USH2A | c.8558+8_8558+10del (n.8558+8_8558+10del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215878755T>C | CA1012207312 | USH2A | c.8558+9A>G (n.8558+9A>G)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215878755T= | CA1220461448 | USH2A | c.8558+9A= (n.8558+9A=)
| |
1 | g.215878757C>T | CA2580062086 | USH2A | c.8558+7G>A (n.8558+7G>A)
| ClinVar gnomAD v4 |
1 | g.215878759C= | CA1148303228 | USH2A | c.8558+5G= (n.8558+5G=)
| |
1 | g.215878759C>T | CA1394587 | USH2A | c.8558+5G>A (n.8558+5G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215878762A>C | CA344830119 | USH2A | c.8558+2T>G (n.8558+2T>G)
| |
1 | g.215878762A>G | CA344830121 | USH2A | c.8558+2T>C (n.8558+2T>C)
| |
1 | g.215878762A>T | CA344830123 | USH2A | c.8558+2T>A (n.8558+2T>A)
| |
1 | g.215878763C>A | CA344830124 | USH2A | c.8558+1G>T (n.8558+1G>T)
| ClinVar dbSNP |
1 | g.215878763C= | CA1220461456 | USH2A | c.8558+1G= (n.8558+1G=)
| |
1 | g.215878763C>G | CA344830126 | USH2A | c.8558+1G>C (n.8558+1G>C)
| |
1 | g.215878763C>T | CA1394588 | USH2A | c.8558+1G>A (n.8558+1G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215878764C>A | CA344830134 | USH2A | c.8558G>T (p.Arg2853Ile)
| COSMIC COSMIC |
1 | g.215878764C= | CA1220461465 | USH2A | c.8558G= (p.Arg2853=)
| |
1 | g.215878764C>G | CA344830130 | USH2A | c.8558G>C (p.Arg2853Thr)
| |
1 | g.215878764C>T | CA1394589 | USH2A | c.8558G>A (p.Arg2853Lys)
| dbSNP ExAC gnomAD v4 |
1 | g.215878765del | CA2650505132 | USH2A | c.8557del (p.Arg2853AspfsTer5)
| ClinVar gnomAD v4 |
1 | g.215878765T>A | CA1394590 | USH2A | c.8557A>T (p.Arg2853Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215878765T>C | CA344830138 | USH2A | c.8557A>G (p.Arg2853Gly)
| gnomAD v4 |
1 | g.215878765T>G | CA423430137 | USH2A | c.8557A>C (p.Arg2853=)
| |
1 | g.215878765T= | CA1149119398 | USH2A | c.8557A= (p.Arg2853=)
| |
1 | g.215878766C>A | CA344830141 | USH2A | c.8556G>T (p.Leu2852Phe)
| |
1 | g.215878766C>G | CA344830143 | USH2A | c.8556G>C (p.Leu2852Phe)
| |
1 | g.215878766C>T | CA423430140 | USH2A | c.8556G>A (p.Leu2852=)
| gnomAD v4 |
1 | g.215878766_215878767del | CA645523117 | USH2A | c.8555_8556del (p.Leu2852Ter)
| COSMIC COSMIC |
1 | g.215878767A= | CA1220461478 | USH2A | c.8555T= (p.Leu2852=)
| |
1 | g.215878767A>C | CA344830145 | USH2A | c.8555T>G (p.Leu2852Trp)
| |
1 | g.215878767A>G | CA344830148 | USH2A | c.8555T>C (p.Leu2852Ser)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215878767A>T | CA344830150 | USH2A | c.8555T>A (p.Leu2852Ter)
| |
1 | g.215878768A>C | CA344830153 | USH2A | c.8554T>G (p.Leu2852Val)
| |
1 | g.215878768A>G | CA423430144 | USH2A | c.8554T>C (p.Leu2852=)
| ClinVar gnomAD v4 |
1 | g.215878768A>T | CA344830154 | USH2A | c.8554T>A (p.Leu2852Met)
| |
1 | g.215878769A>C | CA344830155 | USH2A | c.8553T>G (p.Asn2851Lys)
| |
1 | g.215878769A>G | CA423430145 | USH2A | c.8553T>C (p.Asn2851=)
| dbSNP |
1 | g.215878769A>T | CA344830157 | USH2A | c.8553T>A (p.Asn2851Lys)
| |
1 | g.215878770T>A | CA344830162 | USH2A | c.8552A>T (p.Asn2851Ile)
| |
1 | g.215878770T>C | CA344830160 | USH2A | c.8552A>G (p.Asn2851Ser)
| |
1 | g.215878770T>G | CA1394591 | USH2A | c.8552A>C (p.Asn2851Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215878770T= | CA1148055426 | USH2A | c.8552A= (p.Asn2851=)
| |
1 | g.215878771T>A | CA344830164 | USH2A | c.8551A>T (p.Asn2851Tyr)
| COSMIC |
1 | g.215878771T>C | CA1394592 | USH2A | c.8551A>G (p.Asn2851Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215878771T>G | CA344830166 | USH2A | c.8551A>C (p.Asn2851His)
| |
1 | g.215878771T= | CA1144212328 | USH2A | c.8551A= (p.Asn2851=)
| |
1 | g.215878772A= | CA1220461498 | USH2A | c.8550T= (p.Pro2850=)
| |
1 | g.215878772A>C | CA423430153 | USH2A | c.8550T>G (p.Pro2850=)
| |
1 | g.215878772A>G | CA423430155 | USH2A | c.8550T>C (p.Pro2850=)
| dbSNP |
1 | g.215878772A>T | CA423430154 | USH2A | c.8550T>A (p.Pro2850=)
| |
1 | g.215878773G>A | CA1394593 | USH2A | c.8549C>T (p.Pro2850Leu)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.215878773G>C | CA344830170 | USH2A | c.8549C>G (p.Pro2850Arg)
| |
1 | g.215878773G= | CA1220461500 | USH2A | c.8549C= (p.Pro2850=)
| |
1 | g.215878773G>T | CA344830173 | USH2A | c.8549C>A (p.Pro2850His)
| |
1 | g.215878774G>A | CA344830177 | USH2A | c.8548C>T (p.Pro2850Ser)
| dbSNP |
1 | g.215878774G>C | CA344830179 | USH2A | c.8548C>G (p.Pro2850Ala)
| |
1 | g.215878774G= | CA1220461502 | USH2A | c.8548C= (p.Pro2850=)
| |
1 | g.215878774G>T | CA344830181 | USH2A | c.8548C>A (p.Pro2850Thr)
| COSMIC |
1 | g.215878775T>A | CA423430158 | USH2A | c.8547A>T (p.Gly2849=)
| |
1 | g.215878775T>C | CA423430159 | USH2A | c.8547A>G (p.Gly2849=)
| |
1 | g.215878775T>G | CA1394594 | USH2A | c.8547A>C (p.Gly2849=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215878775T= | CA1220461506 | USH2A | c.8547A= (p.Gly2849=)
| |
1 | g.215878776C>A | CA16617056 | USH2A | c.8546G>T (p.Gly2849Val)
| ClinVar dbSNP gnomAD v4 |
1 | g.215878776C= | CA1220461509 | USH2A | c.8546G= (p.Gly2849=)
| |
1 | g.215878776C>G | CA344830191 | USH2A | c.8546G>C (p.Gly2849Ala)
| |
1 | g.215878776C>T | CA344830194 | USH2A | c.8546G>A (p.Gly2849Glu)
| ClinVar COSMIC COSMIC |
1 | g.215878777C>A | CA344830201 | USH2A | c.8545G>T (p.Gly2849Ter)
| |
1 | g.215878777C= | CA1220461512 | USH2A | c.8545G= (p.Gly2849=)
| |
1 | g.215878777C>G | CA344830199 | USH2A | c.8545G>C (p.Gly2849Arg)
| |
1 | g.215878777C>T | CA344830200 | USH2A | c.8545G>A (p.Gly2849Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215878778A= | CA1220461514 | USH2A | c.8544T= (p.Asn2848=)
| |
1 | g.215878778A>C | CA344830203 | USH2A | c.8544T>G (p.Asn2848Lys)
| |
1 | g.215878778A>G | CA423430162 | USH2A | c.8544T>C (p.Asn2848=)
| |
1 | g.215878778A>T | CA344830205 | USH2A | c.8544T>A (p.Asn2848Lys)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215878779T>A | CA344830207 | USH2A | c.8543A>T (p.Asn2848Ile)
| |
1 | g.215878779T>C | CA344830210 | USH2A | c.8543A>G (p.Asn2848Ser)
| |
1 | g.215878779T>G | CA344830213 | USH2A | c.8543A>C (p.Asn2848Thr)
| |
1 | g.215878781del | CA2580611865 | USH2A | c.8543del (p.Asn2848MetfsTer5)
| |
1 | g.215878780T>A | CA344830216 | USH2A | c.8542A>T (p.Asn2848Tyr)
| |
1 | g.215878780T>C | CA344830218 | USH2A | c.8542A>G (p.Asn2848Asp)
| |
1 | g.215878780T>G | CA344830220 | USH2A | c.8542A>C (p.Asn2848His)
| |
1 | g.215878781T>A | CA423430170 | USH2A | c.8541A>T (p.Pro2847=)
| |
1 | g.215878781T>C | CA423430171 | USH2A | c.8541A>G (p.Pro2847=)
| |
1 | g.215878781T>G | CA423430172 | USH2A | c.8541A>C (p.Pro2847=)
| |
1 | g.215878782G>A | CA344830223 | USH2A | c.8540C>T (p.Pro2847Leu)
| gnomAD v4 |
1 | g.215878782G>C | CA344830225 | USH2A | c.8540C>G (p.Pro2847Arg)
| |
1 | g.215878782G>T | CA344830227 | USH2A | c.8540C>A (p.Pro2847Gln)
| |
1 | g.215878783G>A | CA344830237 | USH2A | c.8539C>T (p.Pro2847Ser)
| |
1 | g.215878783G>C | CA344830234 | USH2A | c.8539C>G (p.Pro2847Ala)
| |
1 | g.215878783G>T | CA344830231 | USH2A | c.8539C>A (p.Pro2847Thr)
| |
1 | g.215878784C>A | CA344830238 | USH2A | c.8538G>T (p.Lys2846Asn)
| |
1 | g.215878784C>G | CA344830240 | USH2A | c.8538G>C (p.Lys2846Asn)
| |
1 | g.215878784C>T | CA423430179 | USH2A | c.8538G>A (p.Lys2846=)
| ClinVar dbSNP gnomAD v4 |
1 | g.215878785T>A | CA344830243 | USH2A | c.8537A>T (p.Lys2846Met)
| |
1 | g.215878785T>C | CA344830245 | USH2A | c.8537A>G (p.Lys2846Arg)
| ClinVar dbSNP gnomAD v4 |
1 | g.215878785T>G | CA344830247 | USH2A | c.8537A>C (p.Lys2846Thr)
| |
1 | g.215878785T= | CA1220461521 | USH2A | c.8537A= (p.Lys2846=)
| |
1 | g.215878786T>A | CA344830251 | USH2A | c.8536A>T (p.Lys2846Ter)
| |
1 | g.215878786T>C | CA344830253 | USH2A | c.8536A>G (p.Lys2846Glu)
| |
1 | g.215878786T>G | CA344830256 | USH2A | c.8536A>C (p.Lys2846Gln)
| |
1 | g.215878787G>A | CA423430183 | USH2A | c.8535C>T (p.Ser2845=)
| gnomAD v4 |
1 | g.215878787G>C | CA423430184 | USH2A | c.8535C>G (p.Ser2845=)
| ClinVar dbSNP gnomAD v4 |
1 | g.215878787G>T | CA423430185 | USH2A | c.8535C>A (p.Ser2845=)
| |
1 | g.215878788G>A | CA344830258 | USH2A | c.8534C>T (p.Ser2845Phe)
| gnomAD v4 |
1 | g.215878788G>C | CA344830260 | USH2A | c.8534C>G (p.Ser2845Cys)
| |
1 | g.215878788G>T | CA344830267 | USH2A | c.8534C>A (p.Ser2845Tyr)
| |
1 | g.215878789A>C | CA344830272 | USH2A | c.8533T>G (p.Ser2845Ala)
| |
1 | g.215878789A>G | CA344830273 | USH2A | c.8533T>C (p.Ser2845Pro)
| |
1 | g.215878789A>T | CA344830276 | USH2A | c.8533T>A (p.Ser2845Thr)
| |
1 | g.215878790T>A | CA423430188 | USH2A | c.8532A>T (p.Pro2844=)
| ClinVar dbSNP gnomAD v2 |
1 | g.215878790T>C | CA423430189 | USH2A | c.8532A>G (p.Pro2844=)
| gnomAD v4 |
1 | g.215878790T>G | CA423430190 | USH2A | c.8532A>C (p.Pro2844=)
| |
1 | g.215878790T= | CA1220461527 | USH2A | c.8532A= (p.Pro2844=)
| |