1 | g.215671243T>A | CA344841779 | USH2A | c.13862A>T (p.Asp4621Val)
| |
1 | g.215671243T>C | CA344841774 | USH2A | c.13862A>G (p.Asp4621Gly)
| |
1 | g.215671243T>G | CA344841773 | USH2A | c.13862A>C (p.Asp4621Ala)
| |
1 | g.215671244C>A | CA344841783 | USH2A | c.13861G>T (p.Asp4621Tyr)
| |
1 | g.215671244C= | CA1220372206 | USH2A | c.13861G= (p.Asp4621=)
| |
1 | g.215671244C>G | CA344841787 | USH2A | c.13861G>C (p.Asp4621His)
| |
1 | g.215671244C>T | CA1393184 | USH2A | c.13861G>A (p.Asp4621Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215671245A>C | CA344841790 | USH2A | c.13860T>G (p.Ser4620Arg)
| |
1 | g.215671245A>G | CA423426555 | USH2A | c.13860T>C (p.Ser4620=)
| |
1 | g.215671245A>T | CA344841791 | USH2A | c.13860T>A (p.Ser4620Arg)
| |
1 | g.215671246C>A | CA344841792 | USH2A | c.13859G>T (p.Ser4620Ile)
| |
1 | g.215671246C= | CA1220372207 | USH2A | c.13859G= (p.Ser4620=)
| |
1 | g.215671246C>G | CA344841793 | USH2A | c.13859G>C (p.Ser4620Thr)
| |
1 | g.215671246C>T | CA344841794 | USH2A | c.13859G>A (p.Ser4620Asn)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.215671247T>A | CA344841795 | USH2A | c.13858A>T (p.Ser4620Cys)
| |
1 | g.215671247T>C | CA344841797 | USH2A | c.13858A>G (p.Ser4620Gly)
| ClinVar dbSNP gnomAD v4 |
1 | g.215671247T>G | CA344841798 | USH2A | c.13858A>C (p.Ser4620Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215671247T= | CA1220372208 | USH2A | c.13858A= (p.Ser4620=)
| |
1 | g.215671248dup | CA645519368 | USH2A | c.13858dup (p.Ser4620LysfsTer2)
| COSMIC COSMIC |
1 | g.215671248T>A | CA423426560 | USH2A | c.13857A>T (p.Ser4619=)
| |
1 | g.215671248T>C | CA1393185 | USH2A | c.13857A>G (p.Ser4619=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215671248T>G | CA423426558 | USH2A | c.13857A>C (p.Ser4619=)
| |
1 | g.215671248T= | CA1143945369 | USH2A | c.13857A= (p.Ser4619=)
| |
1 | g.215671249G>A | CA344841824 | USH2A | c.13856C>T (p.Ser4619Leu)
| gnomAD v4 |
1 | g.215671249G>C | CA344841820 | USH2A | c.13856C>G (p.Ser4619Ter)
| ClinVar |
1 | g.215671249G>T | CA344841817 | USH2A | c.13856C>A (p.Ser4619Ter)
| |
1 | g.215671250A>C | CA344841831 | USH2A | c.13855T>G (p.Ser4619Ala)
| |
1 | g.215671250A>G | CA344841827 | USH2A | c.13855T>C (p.Ser4619Pro)
| |
1 | g.215671250A>T | CA344841829 | USH2A | c.13855T>A (p.Ser4619Thr)
| |
1 | g.215671251T>A | CA423426569 | USH2A | c.13854A>T (p.Ala4618=)
| |
1 | g.215671251T>C | CA1393186 | USH2A | c.13854A>G (p.Ala4618=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215671251T>G | CA423426561 | USH2A | c.13854A>C (p.Ala4618=)
| |
1 | g.215671251T= | CA1148724243 | USH2A | c.13854A= (p.Ala4618=)
| |
1 | g.215671252G>A | CA344841833 | USH2A | c.13853C>T (p.Ala4618Val)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215671252G>C | CA344841836 | USH2A | c.13853C>G (p.Ala4618Gly)
| |
1 | g.215671252G= | CA1220372209 | USH2A | c.13853C= (p.Ala4618=)
| |
1 | g.215671252G>T | CA344841840 | USH2A | c.13853C>A (p.Ala4618Glu)
| |
1 | g.215671253C>A | CA344841850 | USH2A | c.13852G>T (p.Ala4618Ser)
| |
1 | g.215671253C>G | CA344841845 | USH2A | c.13852G>C (p.Ala4618Pro)
| |
1 | g.215671253C>T | CA344841848 | USH2A | c.13852G>A (p.Ala4618Thr)
| |
1 | g.215671254A= | CA1220372210 | USH2A | c.13851T= (p.Cys4617=)
| |
1 | g.215671254A>C | CA344841852 | USH2A | c.13851T>G (p.Cys4617Trp)
| |
1 | g.215671254A>G | CA423426572 | USH2A | c.13851T>C (p.Cys4617=)
| dbSNP gnomAD v4 |
1 | g.215671254A>T | CA344841853 | USH2A | c.13851T>A (p.Cys4617Ter)
| |
1 | g.215671255C>A | CA344841855 | USH2A | c.13850G>T (p.Cys4617Phe)
| dbSNP gnomAD v4 |
1 | g.215671255C= | CA1220372211 | USH2A | c.13850G= (p.Cys4617=)
| |
1 | g.215671255C>G | CA344841857 | USH2A | c.13850G>C (p.Cys4617Ser)
| |
1 | g.215671255C>T | CA344841859 | USH2A | c.13850G>A (p.Cys4617Tyr)
| dbSNP |
1 | g.215671256A= | CA1220372212 | USH2A | c.13849T= (p.Cys4617=)
| |
1 | g.215671256A>C | CA344841860 | USH2A | c.13849T>G (p.Cys4617Gly)
| dbSNP |
1 | g.215671256A>G | CA344841864 | USH2A | c.13849T>C (p.Cys4617Arg)
| |
1 | g.215671256A>T | CA344841862 | USH2A | c.13849T>A (p.Cys4617Ser)
| |
1 | g.215671257T>A | CA423426573 | USH2A | c.13848A>T (p.Gly4616=)
| |
1 | g.215671257T>C | CA423426575 | USH2A | c.13848A>G (p.Gly4616=)
| gnomAD v4 |
1 | g.215671257T>G | CA423426577 | USH2A | c.13848A>C (p.Gly4616=)
| |
1 | g.215671257T= | CA1220372213 | USH2A | c.13848A= (p.Gly4616=)
| |
1 | g.215671258C>A | CA270143 | USH2A | c.13847G>T (p.Gly4616Val)
| ClinVar dbSNP gnomAD v4 |
1 | g.215671258C= | CA1144233400 | USH2A | c.13847G= (p.Gly4616=)
| |
1 | g.215671258C>G | CA344841869 | USH2A | c.13847G>C (p.Gly4616Ala)
| |
1 | g.215671258C>T | CA344841872 | USH2A | c.13847G>A (p.Gly4616Glu)
| |
1 | g.215671258_215671260delinsCCC | CA1140592563 | USH2A | c.13845_13847delinsGGG (p.Leu4615=)
| |
1 | g.215671260dup | CA37410249 | USH2A | c.13847dup (p.Cys4617MetfsTer5)
| dbSNP |
1 | g.215671259C>A | CA344841876 | USH2A | c.13846G>T (p.Gly4616Ter)
| |
1 | g.215671259C>G | CA344841880 | USH2A | c.13846G>C (p.Gly4616Arg)
| |
1 | g.215671259C>T | CA344841882 | USH2A | c.13846G>A (p.Gly4616Arg)
| gnomAD v4 |
1 | g.215671260C>A | CA423426580 | USH2A | c.13845G>T (p.Leu4615=)
| |
1 | g.215671260C>G | CA423426581 | USH2A | c.13845G>C (p.Leu4615=)
| |
1 | g.215671260C>T | CA423426583 | USH2A | c.13845G>A (p.Leu4615=)
| gnomAD v4 |
1 | g.215671261A>C | CA344841883 | USH2A | c.13844T>G (p.Leu4615Arg)
| |
1 | g.215671261A>G | CA344841885 | USH2A | c.13844T>C (p.Leu4615Pro)
| |
1 | g.215671261A>T | CA344841887 | USH2A | c.13844T>A (p.Leu4615Gln)
| |
1 | g.215671262G>A | CA423426587 | USH2A | c.13843C>T (p.Leu4615=)
| |
1 | g.215671262G>C | CA344841889 | USH2A | c.13843C>G (p.Leu4615Val)
| |
1 | g.215671262G>T | CA344841892 | USH2A | c.13843C>A (p.Leu4615Met)
| |
1 | g.215671264del | CA423426586 | USH2A | c.13843del (p.Leu4615TrpfsTer19)
| gnomAD v4 |
1 | g.215671263G>A | CA423426589 | USH2A | c.13842C>T (p.Thr4614=)
| ClinVar |
1 | g.215671263G>C | CA423426590 | USH2A | c.13842C>G (p.Thr4614=)
| COSMIC |
1 | g.215671263G= | CA1220372214 | USH2A | c.13842C= (p.Thr4614=)
| |
1 | g.215671263G>T | CA1393187 | USH2A | c.13842C>A (p.Thr4614=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215671264G>A | CA344841901 | USH2A | c.13841C>T (p.Thr4614Ile)
| |
1 | g.215671264G>C | CA344841903 | USH2A | c.13841C>G (p.Thr4614Ser)
| |
1 | g.215671264G>T | CA344841899 | USH2A | c.13841C>A (p.Thr4614Asn)
| gnomAD v4 |
1 | g.215671265T>A | CA344841905 | USH2A | c.13840A>T (p.Thr4614Ser)
| |
1 | g.215671265T>C | CA344841908 | USH2A | c.13840A>G (p.Thr4614Ala)
| gnomAD v4 |
1 | g.215671265T>G | CA344841909 | USH2A | c.13840A>C (p.Thr4614Pro)
| |
1 | g.215671266G>A | CA423426593 | USH2A | c.13839C>T (p.Thr4613=)
| |
1 | g.215671266G>C | CA423426594 | USH2A | c.13839C>G (p.Thr4613=)
| |
1 | g.215671266G>T | CA423426595 | USH2A | c.13839C>A (p.Thr4613=)
| |
1 | g.215671267G>A | CA344841913 | USH2A | c.13838C>T (p.Thr4613Ile)
| ClinVar dbSNP gnomAD v4 |
1 | g.215671267G>C | CA344841920 | USH2A | c.13838C>G (p.Thr4613Ser)
| |
1 | g.215671267G= | CA1220372215 | USH2A | c.13838C= (p.Thr4613=)
| |
1 | g.215671267G>T | CA344841923 | USH2A | c.13838C>A (p.Thr4613Asn)
| |
1 | g.215671268T>A | CA344841932 | USH2A | c.13837A>T (p.Thr4613Ser)
| |
1 | g.215671268T>C | CA344841927 | USH2A | c.13837A>G (p.Thr4613Ala)
| |
1 | g.215671268T>G | CA344841930 | USH2A | c.13837A>C (p.Thr4613Pro)
| |
1 | g.215671269G>A | CA423426601 | USH2A | c.13836C>T (p.Cys4612=)
| ClinVar dbSNP |
1 | g.215671269G>C | CA1393188 | USH2A | c.13836C>G (p.Cys4612Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215671269G= | CA1220372216 | USH2A | c.13836C= (p.Cys4612=)
| |
1 | g.215671269G>T | CA344841936 | USH2A | c.13836C>A (p.Cys4612Ter)
| |
1 | g.215671270C>A | CA344841938 | USH2A | c.13835G>T (p.Cys4612Phe)
| |
1 | g.215671270C>G | CA344841941 | USH2A | c.13835G>C (p.Cys4612Ser)
| |
1 | g.215671270C>T | CA344841943 | USH2A | c.13835G>A (p.Cys4612Tyr)
| |
1 | g.215671271A>C | CA344841951 | USH2A | c.13834T>G (p.Cys4612Gly)
| |
1 | g.215671271A>G | CA344841947 | USH2A | c.13834T>C (p.Cys4612Arg)
| |
1 | g.215671271A>T | CA344841949 | USH2A | c.13834T>A (p.Cys4612Ser)
| |
1 | g.215671271dup | CA2740090310 | USH2A | c.13834dup (p.Cys4612LeufsTer10)
| ClinVar |
1 | g.215671272C>A | CA423426606 | USH2A | c.13833G>T (p.Ala4611=)
| gnomAD v4 |
1 | g.215671272C= | CA1220372217 | USH2A | c.13833G= (p.Ala4611=)
| |
1 | g.215671272C>G | CA423426608 | USH2A | c.13833G>C (p.Ala4611=)
| |
1 | g.215671272C>T | CA1393189 | USH2A | c.13833G>A (p.Ala4611=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215671273G>A | CA1393190 | USH2A | c.13832C>T (p.Ala4611Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215671273G>C | CA16617053 | USH2A | c.13832C>G (p.Ala4611Gly)
| ClinVar dbSNP gnomAD v4 |
1 | g.215671273G= | CA1144102526 | USH2A | c.13832C= (p.Ala4611=)
| |
1 | g.215671273G>T | CA344841966 | USH2A | c.13832C>A (p.Ala4611Glu)
| dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.215671274C>A | CA344841969 | USH2A | c.13831G>T (p.Ala4611Ser)
| |
1 | g.215671274C>G | CA344841970 | USH2A | c.13831G>C (p.Ala4611Pro)
| |
1 | g.215671274C>T | CA344841975 | USH2A | c.13831G>A (p.Ala4611Thr)
| |
1 | g.215671275T>A | CA344841978 | USH2A | c.13830A>T (p.Gln4610His)
| |
1 | g.215671275T>C | CA423426611 | USH2A | c.13830A>G (p.Gln4610=)
| |
1 | g.215671275T>G | CA344841980 | USH2A | c.13830A>C (p.Gln4610His)
| |
1 | g.215671276T>A | CA344841981 | USH2A | c.13829A>T (p.Gln4610Leu)
| |
1 | g.215671276T>C | CA344841984 | USH2A | c.13829A>G (p.Gln4610Arg)
| |
1 | g.215671276T>G | CA344841985 | USH2A | c.13829A>C (p.Gln4610Pro)
| |
1 | g.215671277G>A | CA344841987 | USH2A | c.13828C>T (p.Gln4610Ter)
| |
1 | g.215671277G>C | CA344842001 | USH2A | c.13828C>G (p.Gln4610Glu)
| |
1 | g.215671277G>T | CA344841990 | USH2A | c.13828C>A (p.Gln4610Lys)
| |
1 | g.215671278A>C | CA344842003 | USH2A | c.13827T>G (p.Ile4609Met)
| |
1 | g.215671278A>G | CA423426612 | USH2A | c.13827T>C (p.Ile4609=)
| |
1 | g.215671278A>T | CA423426613 | USH2A | c.13827T>A (p.Ile4609=)
| |
1 | g.215671279A>C | CA344842006 | USH2A | c.13826T>G (p.Ile4609Ser)
| |
1 | g.215671279A>G | CA344842008 | USH2A | c.13826T>C (p.Ile4609Thr)
| |
1 | g.215671279A>T | CA344842010 | USH2A | c.13826T>A (p.Ile4609Asn)
| |
1 | g.215671280T>A | CA344842012 | USH2A | c.13825A>T (p.Ile4609Phe)
| |
1 | g.215671280T>C | CA344842013 | USH2A | c.13825A>G (p.Ile4609Val)
| gnomAD v4 |
1 | g.215671280T>G | CA344842014 | USH2A | c.13825A>C (p.Ile4609Leu)
| |
1 | g.215671281T>A | CA423426619 | USH2A | c.13824A>T (p.Arg4608=)
| |
1 | g.215671281T>C | CA423426621 | USH2A | c.13824A>G (p.Arg4608=)
| |
1 | g.215671281T>G | CA423426620 | USH2A | c.13824A>C (p.Arg4608=)
| |
1 | g.215671282C>A | CA344842015 | USH2A | c.13823G>T (p.Arg4608Leu)
| COSMIC COSMIC |
1 | g.215671282C= | CA1220372218 | USH2A | c.13823G= (p.Arg4608=)
| |
1 | g.215671282C>G | CA344842016 | USH2A | c.13823G>C (p.Arg4608Pro)
| ClinVar |
1 | g.215671282C>T | CA1393191 | USH2A | c.13823G>A (p.Arg4608Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.215671283G>A | CA1393192 | USH2A | c.13822C>T (p.Arg4608Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215671283G>C | CA37410282 | USH2A | c.13822C>G (p.Arg4608Gly)
| dbSNP gnomAD v4 |
1 | g.215671283G= | CA1143547210 | USH2A | c.13822C= (p.Arg4608=)
| |
1 | g.215671283G>T | CA423426623 | USH2A | c.13822C>A (p.Arg4608=)
| |
1 | g.215671284T>A | CA423426625 | USH2A | c.13821A>T (p.Ile4607=)
| |
1 | g.215671284T>C | CA344842017 | USH2A | c.13821A>G (p.Ile4607Met)
| |
1 | g.215671284T>G | CA423426627 | USH2A | c.13821A>C (p.Ile4607=)
| |
1 | g.215671285A= | CA1220372219 | USH2A | c.13820T= (p.Ile4607=)
| |
1 | g.215671285A>C | CA344842018 | USH2A | c.13820T>G (p.Ile4607Arg)
| |
1 | g.215671285A>G | CA344842019 | USH2A | c.13820T>C (p.Ile4607Thr)
| |
1 | g.215671285A>T | CA1393193 | USH2A | c.13820T>A (p.Ile4607Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215671286T>A | CA344842022 | USH2A | c.13819A>T (p.Ile4607Leu)
| |
1 | g.215671286T>C | CA344842024 | USH2A | c.13819A>G (p.Ile4607Val)
| |
1 | g.215671286T>G | CA344842026 | USH2A | c.13819A>C (p.Ile4607Leu)
| |
1 | g.215671287T>A | CA344842031 | USH2A | c.13818A>T (p.Glu4606Asp)
| |
1 | g.215671287T>C | CA423426632 | USH2A | c.13818A>G (p.Glu4606=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215671287T>G | CA344842033 | USH2A | c.13818A>C (p.Glu4606Asp)
| |
1 | g.215671287T= | CA1220372220 | USH2A | c.13818A= (p.Glu4606=)
| |
1 | g.215671288T>A | CA344842035 | USH2A | c.13817A>T (p.Glu4606Val)
| |
1 | g.215671288T>C | CA344842037 | USH2A | c.13817A>G (p.Glu4606Gly)
| |
1 | g.215671288T>G | CA344842040 | USH2A | c.13817A>C (p.Glu4606Ala)
| |
1 | g.215671289C>A | CA344842053 | USH2A | c.13816G>T (p.Glu4606Ter)
| dbSNP |
1 | g.215671289C= | CA1220372221 | USH2A | c.13816G= (p.Glu4606=)
| |
1 | g.215671289C>G | CA344842055 | USH2A | c.13816G>C (p.Glu4606Gln)
| |
1 | g.215671289C>T | CA344842056 | USH2A | c.13816G>A (p.Glu4606Lys)
| COSMIC COSMIC |
1 | g.215671290del | CA2650500260 | USH2A | c.13815del (p.Tyr4605Ter)
| gnomAD v4 |
1 | g.215671290A= | CA1220372222 | USH2A | c.13815T= (p.Tyr4605=)
| |
1 | g.215671290A>C | CA344842059 | USH2A | c.13815T>G (p.Tyr4605Ter)
| |
1 | g.215671290A>G | CA423426641 | USH2A | c.13815T>C (p.Tyr4605=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215671290A>T | CA344842058 | USH2A | c.13815T>A (p.Tyr4605Ter)
| |
1 | g.215671291T>A | CA344842062 | USH2A | c.13814A>T (p.Tyr4605Phe)
| |
1 | g.215671291T>C | CA344842066 | USH2A | c.13814A>G (p.Tyr4605Cys)
| ClinVar dbSNP gnomAD v4 |
1 | g.215671291T>G | CA344842064 | USH2A | c.13814A>C (p.Tyr4605Ser)
| |
1 | g.215671291T= | CA1220372223 | USH2A | c.13814A= (p.Tyr4605=)
| |
1 | g.215671291_215671300del | CA2747717466 | USH2A | c.13812-7_13814del
| |
1 | g.215671292A>C | CA344842072 | USH2A | c.13813T>G (p.Tyr4605Asp)
| |
1 | g.215671292A>G | CA344842081 | USH2A | c.13813T>C (p.Tyr4605His)
| gnomAD v4 |
1 | g.215671292A>T | CA344842074 | USH2A | c.13813T>A (p.Tyr4605Asn)
| gnomAD v4 |
1 | g.215671293C>A | CA344842082 | USH2A | c.13812G>T (p.Arg4604Ser)
| |
1 | g.215671293C= | CA1220372224 | USH2A | c.13812G= (p.Arg4604=)
| |
1 | g.215671293C>G | CA344842089 | USH2A | c.13812G>C (p.Arg4604Ser)
| |
1 | g.215671293C>T | CA37410306 | USH2A | c.13812G>A (p.Arg4604=)
| dbSNP |
1 | g.215671293_215671294insAGAG | CA2747717467 | USH2A | c.13812-1_13812insCTCT (n.13812-1_13812insCTCT)
| |
1 | g.215671294C>A | CA344842092 | USH2A | c.13812-1G>T (n.13812-1G>T)
| ClinVar |
1 | g.215671294C= | CA1143374797 | USH2A | c.13812-1G= (n.13812-1G=)
| |
1 | g.215671294C>G | CA344842095 | USH2A | c.13812-1G>C (n.13812-1G>C)
| |
1 | g.215671294C>T | CA37410313 | USH2A | c.13812-1G>A (n.13812-1G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215671295T>A | CA344842097 | USH2A | c.13812-2A>T (n.13812-2A>T)
| |
1 | g.215671295T>C | CA344842098 | USH2A | c.13812-2A>G (n.13812-2A>G)
| |
1 | g.215671295T>G | CA344842099 | USH2A | c.13812-2A>C (n.13812-2A>C)
| |
1 | g.215671297C= | CA1220372225 | USH2A | c.13812-4G= (n.13812-4G=)
| |
1 | g.215671297C>G | CA2580062073 | USH2A | c.13812-4G>C (n.13812-4G>C)
| ClinVar |
1 | g.215671297C>T | CA1393194 | USH2A | c.13812-4G>A (n.13812-4G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215671297_215671298delinsCA | CA1220372226 | USH2A | c.13812-5_13812-4delinsTG (n.13812-5_13812-4delinsTG)
| |
1 | g.215671298del | CA731332991 | USH2A | c.13812-5del (n.13812-5del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.215671298A= | CA1143806217 | USH2A | c.13812-5T= (n.13812-5T=)
| |
1 | g.215671298A>G | CA1393195 | USH2A | c.13812-5T>C (n.13812-5T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215671299G>C | CA2650500261 | USH2A | c.13812-6C>G (n.13812-6C>G)
| gnomAD v4 |
1 | g.215671300G>C | CA528702960 | USH2A | c.13812-7C>G (n.13812-7C>G)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215671300G= | CA1220372227 | USH2A | c.13812-7C= (n.13812-7C=)
| |
1 | g.215671301del | CA2573131562 | USH2A | c.13812-8del (n.13812-8del)
| ClinVar dbSNP |
1 | g.215671301A= | CA1220372229 | USH2A | c.13812-8T= (n.13812-8T=)
| |
1 | g.215671301A>G | CA2499214436 | USH2A | c.13812-8T>C (n.13812-8T>C)
| ClinVar dbSNP |
1 | g.215671301A>T | CA1220372228 | USH2A | c.13812-8T>A (n.13812-8T>A)
| dbSNP gnomAD v4 |
1 | g.215671303A>G | CA2499214437 | USH2A | c.13812-10T>C (n.13812-10T>C)
| ClinVar dbSNP gnomAD v4 |
1 | g.215671304T>C | CA528702961 | USH2A | c.13812-11A>G (n.13812-11A>G)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215671304T= | CA1220372230 | USH2A | c.13812-11A= (n.13812-11A=)
| |
1 | g.215671305A>G | CA2650500262 | USH2A | c.13812-12T>C (n.13812-12T>C)
| gnomAD v4 |
1 | g.215671307_215671313del | CA2747717468 | USH2A | c.13812-18_13812-12del (n.13812-18_13812-12del)
| |
1 | g.215671306A= | CA1220372231 | USH2A | c.13812-13T= (n.13812-13T=)
| |
1 | g.215671306A>T | CA1393196 | USH2A | c.13812-13T>A (n.13812-13T>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215671307G>A | CA2574000842 | USH2A | c.13812-14C>T (n.13812-14C>T)
| ClinVar gnomAD v4 |
1 | g.215671309C>A | CA2650500263 | USH2A | c.13812-16G>T (n.13812-16G>T)
| gnomAD v4 |
1 | g.215671313A= | CA1220372232 | USH2A | c.13812-20T= (n.13812-20T=)
| |
1 | g.215671313A>C | CA528702962 | USH2A | c.13812-20T>G (n.13812-20T>G)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215671315T>C | CA2747717469 | USH2A | c.13812-22A>G (n.13812-22A>G)
| |
1 | g.215671316T>C | CA1393197 | USH2A | c.13812-23A>G (n.13812-23A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215671316T= | CA1220372233 | USH2A | c.13812-23A= (n.13812-23A=)
| |
1 | g.215671318_215671330del | CA2747717470 | USH2A | c.13812-36_13812-24del (n.13812-36_13812-24del)
| |
1 | g.215671318G>A | CA528702963 | USH2A | c.13812-25C>T (n.13812-25C>T)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215671318G>C | CA2650500264 | USH2A | c.13812-25C>G (n.13812-25C>G)
| gnomAD v4 |
1 | g.215671318G= | CA1220372234 | USH2A | c.13812-25C= (n.13812-25C=)
| |
1 | g.215671319T>C | CA731333042 | USH2A | c.13812-26A>G (n.13812-26A>G)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215671319T= | CA1220372235 | USH2A | c.13812-26A= (n.13812-26A=)
| |
1 | g.215671319_215671320insACA | CA2747717472 | USH2A | c.13812-27_13812-26insTGT (n.13812-27_13812-26insTGT)
| |
1 | g.215671319_215671320insAGA | CA2747717471 | USH2A | c.13812-27_13812-26insTCT (n.13812-27_13812-26insTCT)
| |
1 | g.215671320G>A | CA1393198 | USH2A | c.13812-27C>T (n.13812-27C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215671320G>C | CA528702964 | USH2A | c.13812-27C>G (n.13812-27C>G)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215671320G= | CA1220372236 | USH2A | c.13812-27C= (n.13812-27C=)
| |
1 | g.215671320G>T | CA2650500265 | USH2A | c.13812-27C>A (n.13812-27C>A)
| gnomAD v4 |
1 | g.215671320_215671326del | CA2747717473 | USH2A | c.13812-33_13812-27del (n.13812-33_13812-27del)
| |
1 | g.215671323_215671324insAC | CA2747717474 | USH2A | c.13812-31_13812-30insGT (n.13812-31_13812-30insGT)
| |
1 | g.215671325T>A | CA2650500266 | USH2A | c.13812-32A>T (n.13812-32A>T)
| gnomAD v4 |
1 | g.215671325_215671326del | CA2747717475 | USH2A | c.13812-33_13812-32del (n.13812-33_13812-32del)
| |
1 | g.215671327dup | CA2747717476 | USH2A | c.13812-34dup (n.13812-34dup)
| |
1 | g.215671328G>A | CA528702965 | USH2A | c.13812-35C>T (n.13812-35C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215671328G= | CA1220372237 | USH2A | c.13812-35C= (n.13812-35C=)
| |
1 | g.215671329C>A | CA2747717479 | USH2A | c.13812-36G>T (n.13812-36G>T)
| |
1 | g.215671329C>G | CA2747717480 | USH2A | c.13812-36G>C (n.13812-36G>C)
| |
1 | g.215671329_215671332del | CA2747717477 | USH2A | c.13812-39_13812-36del (n.13812-39_13812-36del)
| |
1 | g.215671329_215671334del | CA2747717478 | USH2A | c.13812-41_13812-36del (n.13812-41_13812-36del)
| |
1 | g.215671330A= | CA1220372238 | USH2A | c.13812-37T= (n.13812-37T=)
| |
1 | g.215671330A>G | CA528702966 | USH2A | c.13812-37T>C (n.13812-37T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215671331A>C | CA2574001367 | USH2A | c.13812-38T>G (n.13812-38T>G)
| gnomAD v4 |
1 | g.215671332A>C | CA2747717481 | USH2A | c.13812-39T>G (n.13812-39T>G)
| |
1 | g.215671333A>G | CA2650500267 | USH2A | c.13812-40T>C (n.13812-40T>C)
| gnomAD v4 |
1 | g.215671334T>C | CA1393199 | USH2A | c.13812-41A>G (n.13812-41A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215671334T>G | CA2650500268 | USH2A | c.13812-41A>C (n.13812-41A>C)
| gnomAD v4 |
1 | g.215671334T= | CA1147582424 | USH2A | c.13812-41A= (n.13812-41A=)
| |
1 | g.215671335A= | CA1149125938 | USH2A | c.13812-42T= (n.13812-42T=)
| |
1 | g.215671335A>G | CA1393200 | USH2A | c.13812-42T>C (n.13812-42T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215671337A>T | CA2650500269 | USH2A | c.13812-44T>A (n.13812-44T>A)
| gnomAD v4 |
1 | g.215671338T>C | CA1012177509 | USH2A | c.13812-45A>G (n.13812-45A>G)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215671338T>G | CA731333054 | USH2A | c.13812-45A>C (n.13812-45A>C)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215671338T= | CA1220372239 | USH2A | c.13812-45A= (n.13812-45A=)
| |
1 | g.215671339T>C | CA2574001389 | USH2A | c.13812-46A>G (n.13812-46A>G)
| |
1 | g.215671339_215671340insAG | CA2747717483 | USH2A | c.13812-47_13812-46insCT (n.13812-47_13812-46insCT)
| |
1 | g.215671339_215671340insACAG | CA2747717482 | USH2A | c.13812-47_13812-46insCTGT (n.13812-47_13812-46insCTGT)
| |
1 | g.215671340T>C | CA731333056 | USH2A | c.13812-47A>G (n.13812-47A>G)
| dbSNP |
1 | g.215671340T= | CA1220372240 | USH2A | c.13812-47A= (n.13812-47A=)
| |
1 | g.215671340_215671348del | CA2747717484 | USH2A | c.13812-55_13812-47del (n.13812-55_13812-47del)
| |
1 | g.215671341T>C | CA528702967 | USH2A | c.13812-48A>G (n.13812-48A>G)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215671341T= | CA1220372241 | USH2A | c.13812-48A= (n.13812-48A=)
| |
1 | g.215671341_215671342del | CA2747717485 | USH2A | c.13812-49_13812-48del (n.13812-49_13812-48del)
| |
1 | g.215671342C>A | CA2650500270 | USH2A | c.13812-49G>T (n.13812-49G>T)
| gnomAD v4 |
1 | g.215671343A= | CA1220372242 | USH2A | c.13812-50T= (n.13812-50T=)
| |
1 | g.215671343A>C | CA528702968 | USH2A | c.13812-50T>G (n.13812-50T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215671343A>G | CA37410351 | USH2A | c.13812-50T>C (n.13812-50T>C)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215671343A>T | CA2650500271 | USH2A | c.13812-50T>A (n.13812-50T>A)
| gnomAD v4 |