| 1 | g.215866804_215866923del | CA2747724317 | USH2A | c.8845+90_8845+209del (n.8845+90_8845+209del)
| |
| 1 | g.215866890_215866968del | CA2747724319 | USH2A | c.8845+46_8845+124del (n.8845+46_8845+124del)
| |
| 1 | g.215866919T>C | CA1220455610 | USH2A | c.8845+88A>G (n.8845+88A>G)
| dbSNP gnomAD v4 |
| 1 | g.215866919T= | CA1220455609 | USH2A | c.8845+88A= (n.8845+88A=)
| |
| 1 | g.215866920G>T | CA2650504832 | USH2A | c.8845+87C>A (n.8845+87C>A)
| gnomAD v4 |
| 1 | g.215866920_215866921delinsGT | CA1220455611 | USH2A | c.8845+86_8845+87delinsAC (n.8845+86_8845+87delinsAC)
| |
| 1 | g.215866921del | CA1220455612 | USH2A | c.8845+86del (n.8845+86del)
| dbSNP gnomAD v4 |
| 1 | g.215866922G>A | CA37459170 | USH2A | c.8845+85C>T (n.8845+85C>T)
| dbSNP gnomAD v4 |
| 1 | g.215866922G>C | CA2574133174 | USH2A | c.8845+85C>G (n.8845+85C>G)
| gnomAD v4 |
| 1 | g.215866922G= | CA1145085657 | USH2A | c.8845+85C= (n.8845+85C=)
| |
| 1 | g.215866924A= | CA1220455613 | USH2A | c.8845+83T= (n.8845+83T=)
| |
| 1 | g.215866924A>C | CA1220455614 | USH2A | c.8845+83T>G (n.8845+83T>G)
| dbSNP gnomAD v4 |
| 1 | g.215866924A>G | CA2650504833 | USH2A | c.8845+83T>C (n.8845+83T>C)
| gnomAD v4 |
| 1 | g.215866925C>T | CA2650504834 | USH2A | c.8845+82G>A (n.8845+82G>A)
| gnomAD v4 |
| 1 | g.215866926A= | CA1220455615 | USH2A | c.8845+81T= (n.8845+81T=)
| |
| 1 | g.215866926A>C | CA1220455616 | USH2A | c.8845+81T>G (n.8845+81T>G)
| dbSNP gnomAD v4 |
| 1 | g.215866926A>G | CA2650504835 | USH2A | c.8845+81T>C (n.8845+81T>C)
| gnomAD v4 |
| 1 | g.215866927T= | CA1220455617 | USH2A | c.8845+80A= (n.8845+80A=)
| |
| 1 | g.215866928G>A | CA2574133175 | USH2A | c.8845+79C>T (n.8845+79C>T)
| gnomAD v4 |
| 1 | g.215866928G>T | CA2574133176 | USH2A | c.8845+79C>A (n.8845+79C>A)
| |
| 1 | g.215866932dup | CA731385820 | USH2A | c.8845+79dup (n.8845+79dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215866929G>A | CA2697983060 | USH2A | c.8845+78C>T (n.8845+78C>T)
| dbSNP |
| 1 | g.215866929G>T | CA2747724320 | USH2A | c.8845+78C>A (n.8845+78C>A)
| |
| 1 | g.215866930G>T | CA646411114 | USH2A | c.8845+77C>A (n.8845+77C>A)
| COSMIC |
| 1 | g.215866931G>T | CA2650504836 | USH2A | c.8845+76C>A (n.8845+76C>A)
| gnomAD v4 |
| 1 | g.215866932G>A | CA2650504837 | USH2A | c.8845+75C>T (n.8845+75C>T)
| gnomAD v4 |
| 1 | g.215866932G= | CA1220455618 | USH2A | c.8845+75C= (n.8845+75C=)
| |
| 1 | g.215866932G>T | CA731385822 | USH2A | c.8845+75C>A (n.8845+75C>A)
| dbSNP gnomAD v4 |
| 1 | g.215866934G>A | CA2650504838 | USH2A | c.8845+73C>T (n.8845+73C>T)
| gnomAD v4 |
| 1 | g.215866934G>C | CA731385823 | USH2A | c.8845+73C>G (n.8845+73C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215866934G= | CA1220455619 | USH2A | c.8845+73C= (n.8845+73C=)
| |
| 1 | g.215866934G>T | CA2650504839 | USH2A | c.8845+73C>A (n.8845+73C>A)
| gnomAD v4 |
| 1 | g.215866935G>A | CA529002442 | USH2A | c.8845+72C>T (n.8845+72C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215866935G>C | CA731385825 | USH2A | c.8845+72C>G (n.8845+72C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215866935G= | CA1220455620 | USH2A | c.8845+72C= (n.8845+72C=)
| |
| 1 | g.215866935G>T | CA731385827 | USH2A | c.8845+72C>A (n.8845+72C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215866938C>T | CA2650504840 | USH2A | c.8845+69G>A (n.8845+69G>A)
| gnomAD v4 |
| 1 | g.215866939A>G | CA2747724321 | USH2A | c.8845+68T>C (n.8845+68T>C)
| |
| 1 | g.215866940T>C | CA731385830 | USH2A | c.8845+67A>G (n.8845+67A>G)
| dbSNP gnomAD v4 |
| 1 | g.215866940T>G | CA1012205677 | USH2A | c.8845+67A>C (n.8845+67A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215866940T= | CA1220455621 | USH2A | c.8845+67A= (n.8845+67A=)
| |
| 1 | g.215866940_215866944delinsTAGTA | CA1220455622 | USH2A | c.8845+63_8845+67delinsTACTA (n.8845+63_8845+67delinsTACTA)
| |
| 1 | g.215866941A= | CA1220455624 | USH2A | c.8845+66T= (n.8845+66T=)
| |
| 1 | g.215866941A>C | CA37459174 | USH2A | c.8845+66T>G (n.8845+66T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215866941A>G | CA37459179 | USH2A | c.8845+66T>C (n.8845+66T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215866941A>T | CA1220455623 | USH2A | c.8845+66T>A (n.8845+66T>A)
| dbSNP gnomAD v4 |
| 1 | g.215866942_215866945del | CA1220455625 | USH2A | c.8845+63_8845+66del (n.8845+63_8845+66del)
| dbSNP |
| 1 | g.215866942G>A | CA2650504841 | USH2A | c.8845+65C>T (n.8845+65C>T)
| gnomAD v4 |
| 1 | g.215866944A>C | CA2650504842 | USH2A | c.8845+63T>G (n.8845+63T>G)
| gnomAD v4 |
| 1 | g.215866944A>G | CA2650504843 | USH2A | c.8845+63T>C (n.8845+63T>C)
| gnomAD v4 |
| 1 | g.215866947G>A | CA2574133177 | USH2A | c.8845+60C>T (n.8845+60C>T)
| |
| 1 | g.215866947G>C | CA2574133178 | USH2A | c.8845+60C>G (n.8845+60C>G)
| |
| 1 | g.215866949A= | CA1146631552 | USH2A | c.8845+58T= (n.8845+58T=)
| |
| 1 | g.215866949A>C | CA37459182 | USH2A | c.8845+58T>G (n.8845+58T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215866950A= | CA1146271469 | USH2A | c.8845+57T= (n.8845+57T=)
| |
| 1 | g.215866950A>G | CA37459183 | USH2A | c.8845+57T>C (n.8845+57T>C)
| dbSNP gnomAD v4 |
| 1 | g.215866951G= | CA1220455626 | USH2A | c.8845+56C= (n.8845+56C=)
| |
| 1 | g.215866951G>T | CA731385833 | USH2A | c.8845+56C>A (n.8845+56C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215866955A= | CA1220455627 | USH2A | c.8845+52T= (n.8845+52T=)
| |
| 1 | g.215866955A>C | CA2650504844 | USH2A | c.8845+52T>G (n.8845+52T>G)
| gnomAD v4 |
| 1 | g.215866955A>G | CA1012205681 | USH2A | c.8845+52T>C (n.8845+52T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215866956T>A | CA37459184 | USH2A | c.8845+51A>T (n.8845+51A>T)
| dbSNP |
| 1 | g.215866956T>C | CA1394476 | USH2A | c.8845+51A>G (n.8845+51A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215866956T= | CA1220455628 | USH2A | c.8845+51A= (n.8845+51A=)
| |
| 1 | g.215866957G>A | CA2747724322 | USH2A | c.8845+50C>T (n.8845+50C>T)
| |
| 1 | g.215866958C= | CA1220455629 | USH2A | c.8845+49G= (n.8845+49G=)
| |
| 1 | g.215866958C>G | CA1394477 | USH2A | c.8845+49G>C (n.8845+49G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215866959T>C | CA1394478 | USH2A | c.8845+48A>G (n.8845+48A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215866959T>G | CA1220455630 | USH2A | c.8845+48A>C (n.8845+48A>C)
| dbSNP |
| 1 | g.215866959T= | CA1140412259 | USH2A | c.8845+48A= (n.8845+48A=)
| |
| 1 | g.215866960T>C | CA529002443 | USH2A | c.8845+47A>G (n.8845+47A>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215866960T= | CA1220455631 | USH2A | c.8845+47A= (n.8845+47A=)
| |
| 1 | g.215866962T>A | CA2650504845 | USH2A | c.8845+45A>T (n.8845+45A>T)
| gnomAD v4 |
| 1 | g.215866963A= | CA1220455632 | USH2A | c.8845+44T= (n.8845+44T=)
| |
| 1 | g.215866963A>G | CA529002445 | USH2A | c.8845+44T>C (n.8845+44T>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215866965A>G | CA2574133179 | USH2A | c.8845+42T>C (n.8845+42T>C)
| |
| 1 | g.215866966A>G | CA2650504846 | USH2A | c.8845+41T>C (n.8845+41T>C)
| gnomAD v4 |
| 1 | g.215866967A>G | CA2650504847 | USH2A | c.8845+40T>C (n.8845+40T>C)
| gnomAD v4 |
| 1 | g.215866968T>C | CA529002446 | USH2A | c.8845+39A>G (n.8845+39A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215866968T= | CA1220455633 | USH2A | c.8845+39A= (n.8845+39A=)
| |
| 1 | g.215866969A= | CA1143993111 | USH2A | c.8845+38T= (n.8845+38T=)
| |
| 1 | g.215866969A>G | CA37459200 | USH2A | c.8845+38T>C (n.8845+38T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215866970C>A | CA2650504848 | USH2A | c.8845+37G>T (n.8845+37G>T)
| gnomAD v4 |
| 1 | g.215866970C= | CA1220455634 | USH2A | c.8845+37G= (n.8845+37G=)
| |
| 1 | g.215866970C>T | CA1394479 | USH2A | c.8845+37G>A (n.8845+37G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215866971A= | CA1220455635 | USH2A | c.8845+36T= (n.8845+36T=)
| |
| 1 | g.215866971A>C | CA1394480 | USH2A | c.8845+36T>G (n.8845+36T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215866971A>G | CA2650504849 | USH2A | c.8845+36T>C (n.8845+36T>C)
| gnomAD v4 |
| 1 | g.215866971A>T | CA1394481 | USH2A | c.8845+36T>A (n.8845+36T>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215866972C= | CA1220455638 | USH2A | c.8845+35G= (n.8845+35G=)
| |
| 1 | g.215866972C>G | CA1220455637 | USH2A | c.8845+35G>C (n.8845+35G>C)
| dbSNP |
| 1 | g.215866972_215866974delinsCAA | CA1220455636 | USH2A | c.8845+33_8845+35delinsTTG (n.8845+33_8845+35delinsTTG)
| |
| 1 | g.215866973A= | CA1220455639 | USH2A | c.8845+34T= (n.8845+34T=)
| |
| 1 | g.215866973A>G | CA529002447 | USH2A | c.8845+34T>C (n.8845+34T>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215866973A>T | CA731385849 | USH2A | c.8845+34T>A (n.8845+34T>A)
| dbSNP gnomAD v4 |
| 1 | g.215866973_215866975delinsAAA | CA1148458381 | USH2A | c.8845+32_8845+34delinsTTT (n.8845+32_8845+34delinsTTT)
| |
| 1 | g.215866974_215866975del | CA1394482 | USH2A | c.8845+33_8845+34del (n.8845+33_8845+34del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215866974A= | CA1220455640 | USH2A | c.8845+33T= (n.8845+33T=)
| |
| 1 | g.215866974A>G | CA1394483 | USH2A | c.8845+33T>C (n.8845+33T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215866976G= | CA1220455641 | USH2A | c.8845+31C= (n.8845+31C=)
| |
| 1 | g.215866976G>T | CA1220455642 | USH2A | c.8845+31C>A (n.8845+31C>A)
| dbSNP gnomAD v4 |
| 1 | g.215866977T>C | CA1394484 | USH2A | c.8845+30A>G (n.8845+30A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215866977T>G | CA2650504850 | USH2A | c.8845+30A>C (n.8845+30A>C)
| gnomAD v4 |
| 1 | g.215866977T= | CA1141765833 | USH2A | c.8845+30A= (n.8845+30A=)
| |
| 1 | g.215866978G>T | CA2650504851 | USH2A | c.8845+29C>A (n.8845+29C>A)
| gnomAD v4 |
| 1 | g.215866979T>C | CA2650504852 | USH2A | c.8845+28A>G (n.8845+28A>G)
| gnomAD v4 |
| 1 | g.215866982A= | CA1144209184 | USH2A | c.8845+25T= (n.8845+25T=)
| |
| 1 | g.215866982A>G | CA1394485 | USH2A | c.8845+25T>C (n.8845+25T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215866983C>T | CA2650504853 | USH2A | c.8845+24G>A (n.8845+24G>A)
| gnomAD v4 |
| 1 | g.215866985C= | CA1220455643 | USH2A | c.8845+22G= (n.8845+22G=)
| |
| 1 | g.215866985C>G | CA1394486 | USH2A | c.8845+22G>C (n.8845+22G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215866987G>A | CA1394487 | USH2A | c.8845+20C>T (n.8845+20C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215866987G= | CA1149070078 | USH2A | c.8845+20C= (n.8845+20C=)
| |
| 1 | g.215866988G>T | CA2650504854 | USH2A | c.8845+19C>A (n.8845+19C>A)
| gnomAD v4 |
| 1 | g.215866989T>C | CA1394488 | USH2A | c.8845+18A>G (n.8845+18A>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215866989T= | CA1220455644 | USH2A | c.8845+18A= (n.8845+18A=)
| |
| 1 | g.215866991T>G | CA2574133180 | USH2A | c.8845+16A>C (n.8845+16A>C)
| gnomAD v4 |
| 1 | g.215866992G>A | CA731385865 | USH2A | c.8845+15C>T (n.8845+15C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215866992G= | CA1220455645 | USH2A | c.8845+15C= (n.8845+15C=)
| |
| 1 | g.215866993A= | CA1220455646 | USH2A | c.8845+14T= (n.8845+14T=)
| |
| 1 | g.215866993A>G | CA1394489 | USH2A | c.8845+14T>C (n.8845+14T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215866994G>A | CA2650504855 | USH2A | c.8845+13C>T (n.8845+13C>T)
| gnomAD v4 |
| 1 | g.215866995A>T | CA2580062058 | USH2A | c.8845+12T>A (n.8845+12T>A)
| ClinVar |
| 1 | g.215866997G>A | CA2499214476 | USH2A | c.8845+10C>T (n.8845+10C>T)
| ClinVar dbSNP |
| 1 | g.215866997_215867001delinsGCTTA | CA1220455647 | USH2A | c.8845+6_8845+10delinsTAAGC (n.8845+6_8845+10delinsTAAGC)
| |
| 1 | g.215866998C= | CA1148720330 | USH2A | c.8845+9G= (n.8845+9G=)
| |
| 1 | g.215866998C>G | CA1394491 | USH2A | c.8845+9G>C (n.8845+9G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215866998C>T | CA1220455648 | USH2A | c.8845+9G>A (n.8845+9G>A)
| dbSNP |
| 1 | g.215866998_215867008delinsCTTACTTACTT | CA1145309353 | USH2A | c.8844_8845+9delinsAAGTAAGTAAG
| |
| 1 | g.215867005_215867008del | CA1394490 | USH2A | c.8845+6_8845+9del
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215866999T>C | CA2574133181 | USH2A | c.8845+8A>G (n.8845+8A>G)
| ClinVar |
| 1 | g.215866999T>G | CA2574133182 | USH2A | c.8845+8A>C (n.8845+8A>C)
| gnomAD v4 |
| 1 | g.215867001A= | CA1220455649 | USH2A | c.8845+6T= (n.8845+6T=)
| |
| 1 | g.215867001A>G | CA529002448 | USH2A | c.8845+6T>C (n.8845+6T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867002C>A | CA2574133183 | USH2A | c.8845+5G>T (n.8845+5G>T)
| |
| 1 | g.215867002C>G | CA2586968203 | USH2A | c.8845+5G>C (n.8845+5G>C)
| |
| 1 | g.215867002C>T | CA2747724323 | USH2A | c.8845+5G>A (n.8845+5G>A)
| |
| 1 | g.215867003T>A | CA2650504856 | USH2A | c.8845+4A>T (n.8845+4A>T)
| gnomAD v4 |
| 1 | g.215867003T>C | CA16043871 | USH2A | c.8845+4A>G (n.8845+4A>G)
| ClinVar dbSNP |
| 1 | g.215867003T= | CA1220455650 | USH2A | c.8845+4A= (n.8845+4A=)
| |
| 1 | g.215867005A= | CA1220455651 | USH2A | c.8845+2T= (n.8845+2T=)
| |
| 1 | g.215867005A>C | CA344850883 | USH2A | c.8845+2T>G (n.8845+2T>G)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867005A>G | CA344850888 | USH2A | c.8845+2T>C (n.8845+2T>C)
| |
| 1 | g.215867005A>T | CA344850886 | USH2A | c.8845+2T>A (n.8845+2T>A)
| |
| 1 | g.215867006C>A | CA344850890 | USH2A | c.8845+1G>T (n.8845+1G>T)
| |
| 1 | g.215867006C= | CA1220455652 | USH2A | c.8845+1G= (n.8845+1G=)
| |
| 1 | g.215867006C>G | CA344850893 | USH2A | c.8845+1G>C (n.8845+1G>C)
| |
| 1 | g.215867006C>T | CA344850895 | USH2A | c.8845+1G>A (n.8845+1G>A)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215867007T>A | CA344850899 | USH2A | c.8845A>T (p.Thr2949Ser)
| |
| 1 | g.215867007T>C | CA344850901 | USH2A | c.8845A>G (p.Thr2949Ala)
| dbSNP |
| 1 | g.215867007T>G | CA344850904 | USH2A | c.8845A>C (p.Thr2949Pro)
| |
| 1 | g.215867007T= | CA1220455653 | USH2A | c.8845A= (p.Thr2949=)
| |
| 1 | g.215867008T>A | CA423313746 | USH2A | c.8844A>T (p.Pro2948=)
| |
| 1 | g.215867008T>C | CA423313747 | USH2A | c.8844A>G (p.Pro2948=)
| |
| 1 | g.215867008T>G | CA423313748 | USH2A | c.8844A>C (p.Pro2948=)
| |
| 1 | g.215867009G>A | CA344850907 | USH2A | c.8843C>T (p.Pro2948Leu)
| gnomAD v4 |
| 1 | g.215867009G>C | CA344850909 | USH2A | c.8843C>G (p.Pro2948Arg)
| |
| 1 | g.215867009G= | CA1220455654 | USH2A | c.8843C= (p.Pro2948=)
| |
| 1 | g.215867009G>T | CA344850911 | USH2A | c.8843C>A (p.Pro2948Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867010del | CA2650504857 | USH2A | c.8843del (p.Pro2948GlnfsTer26)
| gnomAD v4 |
| 1 | g.215867010G>A | CA1394492 | USH2A | c.8842C>T (p.Pro2948Ser)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.215867010G>C | CA344850916 | USH2A | c.8842C>G (p.Pro2948Ala)
| COSMIC COSMIC |
| 1 | g.215867010G= | CA1141860159 | USH2A | c.8842C= (p.Pro2948=)
| |
| 1 | g.215867010G>T | CA344850918 | USH2A | c.8842C>A (p.Pro2948Thr)
| |
| 1 | g.215867011T>A | CA1394493 | USH2A | c.8841A>T (p.Lys2947Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867011T>C | CA423313750 | USH2A | c.8841A>G (p.Lys2947=)
| |
| 1 | g.215867011T>G | CA344850922 | USH2A | c.8841A>C (p.Lys2947Asn)
| |
| 1 | g.215867011T= | CA1220455655 | USH2A | c.8841A= (p.Lys2947=)
| |
| 1 | g.215867013del | CA2650504858 | USH2A | c.8841del (p.Lys2947AsnfsTer27)
| gnomAD v4 |
| 1 | g.215867012T>A | CA344850926 | USH2A | c.8840A>T (p.Lys2947Ile)
| |
| 1 | g.215867012T>C | CA344850928 | USH2A | c.8840A>G (p.Lys2947Arg)
| |
| 1 | g.215867012T>G | CA344850930 | USH2A | c.8840A>C (p.Lys2947Thr)
| gnomAD v4 |
| 1 | g.215867013T>A | CA344850933 | USH2A | c.8839A>T (p.Lys2947Ter)
| |
| 1 | g.215867013T>C | CA344850934 | USH2A | c.8839A>G (p.Lys2947Glu)
| |
| 1 | g.215867013T>G | CA344850935 | USH2A | c.8839A>C (p.Lys2947Gln)
| |
| 1 | g.215867014A>C | CA423313752 | USH2A | c.8838T>G (p.Ala2946=)
| |
| 1 | g.215867014A>G | CA423313753 | USH2A | c.8838T>C (p.Ala2946=)
| |
| 1 | g.215867014A>T | CA423313754 | USH2A | c.8838T>A (p.Ala2946=)
| |
| 1 | g.215867015G>A | CA344850939 | USH2A | c.8837C>T (p.Ala2946Val)
| |
| 1 | g.215867015G>C | CA344850941 | USH2A | c.8837C>G (p.Ala2946Gly)
| |
| 1 | g.215867015G>T | CA344850944 | USH2A | c.8837C>A (p.Ala2946Asp)
| |
| 1 | g.215867016C>A | CA344850948 | USH2A | c.8836G>T (p.Ala2946Ser)
| |
| 1 | g.215867016C>G | CA344850950 | USH2A | c.8836G>C (p.Ala2946Pro)
| |
| 1 | g.215867016C>T | CA344850952 | USH2A | c.8836G>A (p.Ala2946Thr)
| gnomAD v4 |
| 1 | g.215867017C>A | CA344850961 | USH2A | c.8835G>T (p.Trp2945Cys)
| dbSNP COSMIC COSMIC |
| 1 | g.215867017C= | CA1220455656 | USH2A | c.8835G= (p.Trp2945=)
| |
| 1 | g.215867017C>G | CA344850959 | USH2A | c.8835G>C (p.Trp2945Cys)
| |
| 1 | g.215867017C>T | CA344850957 | USH2A | c.8835G>A (p.Trp2945Ter)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215867018C>A | CA344850965 | USH2A | c.8834G>T (p.Trp2945Leu)
| |
| 1 | g.215867018C= | CA1220455657 | USH2A | c.8834G= (p.Trp2945=)
| |
| 1 | g.215867018C>G | CA344850967 | USH2A | c.8834G>C (p.Trp2945Ser)
| |
| 1 | g.215867018C>T | CA1394494 | USH2A | c.8834G>A (p.Trp2945Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867019A>C | CA344850971 | USH2A | c.8833T>G (p.Trp2945Gly)
| |
| 1 | g.215867019A>G | CA344850973 | USH2A | c.8833T>C (p.Trp2945Arg)
| |
| 1 | g.215867019A>T | CA344850976 | USH2A | c.8833T>A (p.Trp2945Arg)
| |
