| 8 | g.10612839_10612840del | CA845125713 | RP1L1 | c.1259_1260del (p.Val420GlyfsTer?)
| dbSNP gnomAD v4 |
| 8 | g.10612839_10612841delinsACT | CA1763379094 | RP1L1 | c.1257_1259delinsAGT (p.Arg419=)
| |
| 8 | g.10612840C>A | CA370295860 | RP1L1 | c.1258G>T (p.Val420Leu)
| |
| 8 | g.10612840C= | CA1763379099 | RP1L1 | c.1258G= (p.Val420=)
| |
| 8 | g.10612840C>G | CA370295861 | RP1L1 | c.1258G>C (p.Val420Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612840C>T | CA370295862 | RP1L1 | c.1258G>A (p.Val420Met)
| gnomAD v4 |
| 8 | g.10612847_10612848dup | CA4625246 | RP1L1 | c.1257_1258dup (p.Val420GlufsTer?)
| ClinVar dbSNP ExAC gnomAD v2 |
| 8 | g.10612847_10612848del | CA645559067 | RP1L1 | c.1257_1258del (p.Arg419SerfsTer?)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10612841T>A | CA370295863 | RP1L1 | c.1257A>T (p.Arg419Ser)
| |
| 8 | g.10612841T>C | CA459620017 | RP1L1 | c.1257A>G (p.Arg419=)
| dbSNP gnomAD v4 |
| 8 | g.10612841T>G | CA370295864 | RP1L1 | c.1257A>C (p.Arg419Ser)
| |
| 8 | g.10612841T= | CA1763379101 | RP1L1 | c.1257A= (p.Arg419=)
| |
| 8 | g.10612842C>A | CA370295865 | RP1L1 | c.1256G>T (p.Arg419Ile)
| gnomAD v4 |
| 8 | g.10612842C= | CA1763379103 | RP1L1 | c.1256G= (p.Arg419=)
| |
| 8 | g.10612842C>G | CA370295866 | RP1L1 | c.1256G>C (p.Arg419Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612842C>T | CA370295867 | RP1L1 | c.1256G>A (p.Arg419Lys)
| gnomAD v4 |
| 8 | g.10612843T>A | CA370295868 | RP1L1 | c.1255A>T (p.Arg419Ter)
| |
| 8 | g.10612843T>C | CA370295869 | RP1L1 | c.1255A>G (p.Arg419Gly)
| gnomAD v4 |
| 8 | g.10612843T>G | CA459620022 | RP1L1 | c.1255A>C (p.Arg419=)
| |
| 8 | g.10612844C>A | CA370295870 | RP1L1 | c.1254G>T (p.Glu418Asp)
| |
| 8 | g.10612844C= | CA1763379104 | RP1L1 | c.1254G= (p.Glu418=)
| |
| 8 | g.10612844C>G | CA370295871 | RP1L1 | c.1254G>C (p.Glu418Asp)
| gnomAD v4 |
| 8 | g.10612844C>T | CA4625247 | RP1L1 | c.1254G>A (p.Glu418=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612845T>A | CA370295872 | RP1L1 | c.1253A>T (p.Glu418Val)
| |
| 8 | g.10612845T>C | CA370295873 | RP1L1 | c.1253A>G (p.Glu418Gly)
| |
| 8 | g.10612845T>G | CA370295874 | RP1L1 | c.1253A>C (p.Glu418Ala)
| |
| 8 | g.10612846C>A | CA370295877 | RP1L1 | c.1252G>T (p.Glu418Ter)
| |
| 8 | g.10612846C= | CA1763379106 | RP1L1 | c.1252G= (p.Glu418=)
| |
| 8 | g.10612846C>G | CA370295876 | RP1L1 | c.1252G>C (p.Glu418Gln)
| |
| 8 | g.10612846C>T | CA370295875 | RP1L1 | c.1252G>A (p.Glu418Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612847T>A | CA4625248 | RP1L1 | c.1251A>T (p.Gly417=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612847T>C | CA459620026 | RP1L1 | c.1251A>G (p.Gly417=)
| |
| 8 | g.10612847T>G | CA459620029 | RP1L1 | c.1251A>C (p.Gly417=)
| |
| 8 | g.10612847T= | CA1763379108 | RP1L1 | c.1251A= (p.Gly417=)
| |
| 8 | g.10612848C>A | CA4625249 | RP1L1 | c.1250G>T (p.Gly417Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612848C= | CA1763379110 | RP1L1 | c.1250G= (p.Gly417=)
| |
| 8 | g.10612848C>G | CA370295878 | RP1L1 | c.1250G>C (p.Gly417Ala)
| gnomAD v4 |
| 8 | g.10612848C>T | CA370295879 | RP1L1 | c.1250G>A (p.Gly417Glu)
| |
| 8 | g.10612849C>A | CA370295880 | RP1L1 | c.1249G>T (p.Gly417Ter)
| |
| 8 | g.10612849C= | CA1763379112 | RP1L1 | c.1249G= (p.Gly417=)
| |
| 8 | g.10612849C>G | CA370295881 | RP1L1 | c.1249G>C (p.Gly417Arg)
| |
| 8 | g.10612849C>T | CA4625250 | RP1L1 | c.1249G>A (p.Gly417Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612850C>A | CA370295882 | RP1L1 | c.1248G>T (p.Gln416His)
| |
| 8 | g.10612850C= | CA1763379114 | RP1L1 | c.1248G= (p.Gln416=)
| |
| 8 | g.10612850C>G | CA370295883 | RP1L1 | c.1248G>C (p.Gln416His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612850C>T | CA459620038 | RP1L1 | c.1248G>A (p.Gln416=)
| gnomAD v4 |
| 8 | g.10612851T>A | CA370295884 | RP1L1 | c.1247A>T (p.Gln416Leu)
| |
| 8 | g.10612851T>C | CA370295885 | RP1L1 | c.1247A>G (p.Gln416Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612851T>G | CA370295886 | RP1L1 | c.1247A>C (p.Gln416Pro)
| |
| 8 | g.10612851T= | CA1763379116 | RP1L1 | c.1247A= (p.Gln416=)
| |
| 8 | g.10612852G>A | CA370295887 | RP1L1 | c.1246C>T (p.Gln416Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612852G>C | CA370295888 | RP1L1 | c.1246C>G (p.Gln416Glu)
| |
| 8 | g.10612852G= | CA1763379118 | RP1L1 | c.1246C= (p.Gln416=)
| |
| 8 | g.10612852G>T | CA370295889 | RP1L1 | c.1246C>A (p.Gln416Lys)
| gnomAD v4 |
| 8 | g.10612853G>A | CA459620043 | RP1L1 | c.1245C>T (p.Ser415=)
| gnomAD v4 |
| 8 | g.10612853G>C | CA459620044 | RP1L1 | c.1245C>G (p.Ser415=)
| |
| 8 | g.10612853G>T | CA459620046 | RP1L1 | c.1245C>A (p.Ser415=)
| gnomAD v4 |
| 8 | g.10612854G>A | CA370295891 | RP1L1 | c.1244C>T (p.Ser415Phe)
| dbSNP gnomAD v4 |
| 8 | g.10612854G>C | CA4625251 | RP1L1 | c.1244C>G (p.Ser415Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612854G= | CA1763379119 | RP1L1 | c.1244C= (p.Ser415=)
| |
| 8 | g.10612854G>T | CA370295890 | RP1L1 | c.1244C>A (p.Ser415Tyr)
| |
| 8 | g.10612855A= | CA1763379121 | RP1L1 | c.1243T= (p.Ser415=)
| |
| 8 | g.10612855A>C | CA370295892 | RP1L1 | c.1243T>G (p.Ser415Ala)
| dbSNP |
| 8 | g.10612855A>G | CA370295893 | RP1L1 | c.1243T>C (p.Ser415Pro)
| |
| 8 | g.10612855A>T | CA370295894 | RP1L1 | c.1243T>A (p.Ser415Thr)
| |
| 8 | g.10612856G>A | CA4625252 | RP1L1 | c.1242C>T (p.Ala414=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612856G>C | CA171947806 | RP1L1 | c.1242C>G (p.Ala414=)
| dbSNP |
| 8 | g.10612856G= | CA1763379123 | RP1L1 | c.1242C= (p.Ala414=)
| |
| 8 | g.10612856G>T | CA459620053 | RP1L1 | c.1242C>A (p.Ala414=)
| |
| 8 | g.10612857G>A | CA370295895 | RP1L1 | c.1241C>T (p.Ala414Val)
| gnomAD v4 |
| 8 | g.10612857G>C | CA370295897 | RP1L1 | c.1241C>G (p.Ala414Gly)
| |
| 8 | g.10612857G>T | CA370295896 | RP1L1 | c.1241C>A (p.Ala414Asp)
| gnomAD v4 |
| 8 | g.10612858C>A | CA370295898 | RP1L1 | c.1240G>T (p.Ala414Ser)
| |
| 8 | g.10612858C= | CA1763379126 | RP1L1 | c.1240G= (p.Ala414=)
| |
| 8 | g.10612858C>G | CA370295899 | RP1L1 | c.1240G>C (p.Ala414Pro)
| |
| 8 | g.10612858C>T | CA370295900 | RP1L1 | c.1240G>A (p.Ala414Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612859A= | CA1763379127 | RP1L1 | c.1239T= (p.His413=)
| |
| 8 | g.10612859A>C | CA370295901 | RP1L1 | c.1239T>G (p.His413Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612859A>G | CA459620058 | RP1L1 | c.1239T>C (p.His413=)
| gnomAD v4 |
| 8 | g.10612859A>T | CA370295902 | RP1L1 | c.1239T>A (p.His413Gln)
| |
| 8 | g.10612860T>A | CA4625253 | RP1L1 | c.1238A>T (p.His413Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612860T>C | CA370295903 | RP1L1 | c.1238A>G (p.His413Arg)
| |
| 8 | g.10612860T>G | CA370295904 | RP1L1 | c.1238A>C (p.His413Pro)
| |
| 8 | g.10612860T= | CA1763379129 | RP1L1 | c.1238A= (p.His413=)
| |
| 8 | g.10612861G>A | CA370295905 | RP1L1 | c.1237C>T (p.His413Tyr)
| gnomAD v4 |
| 8 | g.10612861G>C | CA370295906 | RP1L1 | c.1237C>G (p.His413Asp)
| |
| 8 | g.10612861G= | CA1763379131 | RP1L1 | c.1237C= (p.His413=)
| |
| 8 | g.10612861G>T | CA370295907 | RP1L1 | c.1237C>A (p.His413Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612862C>A | CA459620062 | RP1L1 | c.1236G>T (p.Leu412=)
| |
| 8 | g.10612862C>G | CA459620063 | RP1L1 | c.1236G>C (p.Leu412=)
| |
| 8 | g.10612862C>T | CA459620065 | RP1L1 | c.1236G>A (p.Leu412=)
| |
| 8 | g.10612863A>C | CA370295908 | RP1L1 | c.1235T>G (p.Leu412Arg)
| |
| 8 | g.10612863A>G | CA370295910 | RP1L1 | c.1235T>C (p.Leu412Pro)
| |
| 8 | g.10612863A>T | CA370295909 | RP1L1 | c.1235T>A (p.Leu412Gln)
| gnomAD v4 |
| 8 | g.10612864G>A | CA459620070 | RP1L1 | c.1234C>T (p.Leu412=)
| gnomAD v4 |
| 8 | g.10612864G>C | CA370295911 | RP1L1 | c.1234C>G (p.Leu412Val)
| |
| 8 | g.10612864G= | CA1763379132 | RP1L1 | c.1234C= (p.Leu412=)
| |
| 8 | g.10612864G>T | CA370295912 | RP1L1 | c.1234C>A (p.Leu412Met)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612867dup | CA2579091974 | RP1L1 | c.1234dup (p.Leu412ProfsTer?)
| |
| 8 | g.10612865G>A | CA459620072 | RP1L1 | c.1233C>T (p.Pro411=)
| |
| 8 | g.10612865G>C | CA459620073 | RP1L1 | c.1233C>G (p.Pro411=)
| |
| 8 | g.10612865G>T | CA459620074 | RP1L1 | c.1233C>A (p.Pro411=)
| |
| 8 | g.10612866G>A | CA370295913 | RP1L1 | c.1232C>T (p.Pro411Leu)
| |
| 8 | g.10612866G>C | CA370295914 | RP1L1 | c.1232C>G (p.Pro411Arg)
| gnomAD v4 |
| 8 | g.10612866G>T | CA370295915 | RP1L1 | c.1232C>A (p.Pro411His)
| |
| 8 | g.10612867G>A | CA370295916 | RP1L1 | c.1231C>T (p.Pro411Ser)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.10612867G>C | CA370295917 | RP1L1 | c.1231C>G (p.Pro411Ala)
| dbSNP |
| 8 | g.10612867G= | CA1763379134 | RP1L1 | c.1231C= (p.Pro411=)
| |
| 8 | g.10612867G>T | CA4625254 | RP1L1 | c.1231C>A (p.Pro411Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612868A= | CA1763379137 | RP1L1 | c.1230T= (p.Asn410=)
| |
| 8 | g.10612868A>C | CA4625256 | RP1L1 | c.1230T>G (p.Asn410Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612868A>G | CA4625255 | RP1L1 | c.1230T>C (p.Asn410=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612868A>T | CA370295918 | RP1L1 | c.1230T>A (p.Asn410Lys)
| dbSNP gnomAD v4 |
| 8 | g.10612869T>A | CA370295921 | RP1L1 | c.1229A>T (p.Asn410Ile)
| gnomAD v4 |
| 8 | g.10612869T>C | CA370295919 | RP1L1 | c.1229A>G (p.Asn410Ser)
| |
| 8 | g.10612869T>G | CA370295920 | RP1L1 | c.1229A>C (p.Asn410Thr)
| |
| 8 | g.10612870T>A | CA370295922 | RP1L1 | c.1228A>T (p.Asn410Tyr)
| |
| 8 | g.10612870T>C | CA370295923 | RP1L1 | c.1228A>G (p.Asn410Asp)
| |
| 8 | g.10612870T>G | CA370295924 | RP1L1 | c.1228A>C (p.Asn410His)
| |
| 8 | g.10612871C>A | CA4625258 | RP1L1 | c.1227G>T (p.Thr409=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612871C= | CA1763379139 | RP1L1 | c.1227G= (p.Thr409=)
| |
| 8 | g.10612871C>G | CA459620084 | RP1L1 | c.1227G>C (p.Thr409=)
| |
| 8 | g.10612871C>T | CA4625257 | RP1L1 | c.1227G>A (p.Thr409=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10612872G>A | CA4625259 | RP1L1 | c.1226C>T (p.Thr409Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612872G>C | CA370295925 | RP1L1 | c.1226C>G (p.Thr409Arg)
| gnomAD v4 |
| 8 | g.10612872G= | CA1763379141 | RP1L1 | c.1226C= (p.Thr409=)
| |
| 8 | g.10612872G>T | CA370295926 | RP1L1 | c.1226C>A (p.Thr409Lys)
| |
| 8 | g.10612873T>A | CA370295927 | RP1L1 | c.1225A>T (p.Thr409Ser)
| |
| 8 | g.10612873T>C | CA370295928 | RP1L1 | c.1225A>G (p.Thr409Ala)
| |
| 8 | g.10612873T>G | CA370295929 | RP1L1 | c.1225A>C (p.Thr409Pro)
| gnomAD v4 |
| 8 | g.10612874C>A | CA4625261 | RP1L1 | c.1224G>T (p.Trp408Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612874C= | CA1763379144 | RP1L1 | c.1224G= (p.Trp408=)
| |
| 8 | g.10612874C>G | CA4625260 | RP1L1 | c.1224G>C (p.Trp408Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612874C>T | CA370295930 | RP1L1 | c.1224G>A (p.Trp408Ter)
| dbSNP COSMIC |
| 8 | g.10612875C>A | CA370295935 | RP1L1 | c.1223G>T (p.Trp408Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612875C= | CA1763379146 | RP1L1 | c.1223G= (p.Trp408=)
| |
| 8 | g.10612875C>G | CA370295931 | RP1L1 | c.1223G>C (p.Trp408Ser)
| |
| 8 | g.10612875C>T | CA370295933 | RP1L1 | c.1223G>A (p.Trp408Ter)
| gnomAD v4 COSMIC |
| 8 | g.10612876A= | CA1763379147 | RP1L1 | c.1222T= (p.Trp408=)
| |
| 8 | g.10612876A>C | CA4625262 | RP1L1 | c.1222T>G (p.Trp408Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612876A>G | CA370295938 | RP1L1 | c.1222T>C (p.Trp408Arg)
| |
| 8 | g.10612876A>T | CA370295940 | RP1L1 | c.1222T>A (p.Trp408Arg)
| |
| 8 | g.10612877G>A | CA459620094 | RP1L1 | c.1221C>T (p.Ile407=)
| |
| 8 | g.10612877G>C | CA370295941 | RP1L1 | c.1221C>G (p.Ile407Met)
| ClinVar gnomAD v4 |
| 8 | g.10612877G= | CA1763379149 | RP1L1 | c.1221C= (p.Ile407=)
| |
| 8 | g.10612877G>T | CA4625263 | RP1L1 | c.1221C>A (p.Ile407=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612878A>C | CA370295944 | RP1L1 | c.1220T>G (p.Ile407Ser)
| |
| 8 | g.10612878A>G | CA370295945 | RP1L1 | c.1220T>C (p.Ile407Thr)
| |
| 8 | g.10612878A>T | CA370295946 | RP1L1 | c.1220T>A (p.Ile407Asn)
| |
| 8 | g.10612879T>A | CA370295949 | RP1L1 | c.1219A>T (p.Ile407Phe)
| |
| 8 | g.10612879T>C | CA370295951 | RP1L1 | c.1219A>G (p.Ile407Val)
| |
| 8 | g.10612879T>G | CA370295952 | RP1L1 | c.1219A>C (p.Ile407Leu)
| |
| 8 | g.10612880T>A | CA370295954 | RP1L1 | c.1218A>T (p.Glu406Asp)
| dbSNP |
| 8 | g.10612880T>C | CA459620100 | RP1L1 | c.1218A>G (p.Glu406=)
| |
| 8 | g.10612880T>G | CA370295956 | RP1L1 | c.1218A>C (p.Glu406Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612880T= | CA1763379150 | RP1L1 | c.1218A= (p.Glu406=)
| |
| 8 | g.10612881T>A | CA370295958 | RP1L1 | c.1217A>T (p.Glu406Val)
| |
| 8 | g.10612881T>C | CA370295959 | RP1L1 | c.1217A>G (p.Glu406Gly)
| |
| 8 | g.10612881T>G | CA370295960 | RP1L1 | c.1217A>C (p.Glu406Ala)
| |
| 8 | g.10612882C>A | CA370295961 | RP1L1 | c.1216G>T (p.Glu406Ter)
| |
| 8 | g.10612882C>G | CA370295963 | RP1L1 | c.1216G>C (p.Glu406Gln)
| |
| 8 | g.10612882C>T | CA370295966 | RP1L1 | c.1216G>A (p.Glu406Lys)
| COSMIC |
| 8 | g.10612883A= | CA1763379152 | RP1L1 | c.1215T= (p.Tyr405=)
| |
| 8 | g.10612883A>C | CA171947817 | RP1L1 | c.1215T>G (p.Tyr405Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612883A>G | CA459620105 | RP1L1 | c.1215T>C (p.Tyr405=)
| |
| 8 | g.10612883A>T | CA370295969 | RP1L1 | c.1215T>A (p.Tyr405Ter)
| gnomAD v4 COSMIC |
| 8 | g.10612884T>A | CA370295971 | RP1L1 | c.1214A>T (p.Tyr405Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612884T>C | CA4625264 | RP1L1 | c.1214A>G (p.Tyr405Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612884T>G | CA370295974 | RP1L1 | c.1214A>C (p.Tyr405Ser)
| |
| 8 | g.10612884T= | CA1763379154 | RP1L1 | c.1214A= (p.Tyr405=)
| |
| 8 | g.10612885A>C | CA370295978 | RP1L1 | c.1213T>G (p.Tyr405Asp)
| |
| 8 | g.10612885A>G | CA370295980 | RP1L1 | c.1213T>C (p.Tyr405His)
| |
| 8 | g.10612885A>T | CA370295977 | RP1L1 | c.1213T>A (p.Tyr405Asn)
| |
| 8 | g.10612886C>A | CA370295982 | RP1L1 | c.1212G>T (p.Lys404Asn)
| |
| 8 | g.10612886C= | CA1763379156 | RP1L1 | c.1212G= (p.Lys404=)
| |
| 8 | g.10612886C>G | CA370295984 | RP1L1 | c.1212G>C (p.Lys404Asn)
| gnomAD v4 |
| 8 | g.10612886C>T | CA4625265 | RP1L1 | c.1212G>A (p.Lys404=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612887T>A | CA4625267 | RP1L1 | c.1211A>T (p.Lys404Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.10612887T>C | CA4625266 | RP1L1 | c.1211A>G (p.Lys404Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612887T>G | CA171947818 | RP1L1 | c.1211A>C (p.Lys404Thr)
| dbSNP gnomAD v4 |
| 8 | g.10612887T= | CA1763379159 | RP1L1 | c.1211A= (p.Lys404=)
| |
| 8 | g.10612888T>A | CA370295989 | RP1L1 | c.1210A>T (p.Lys404Ter)
| |
| 8 | g.10612888T>C | CA4625268 | RP1L1 | c.1210A>G (p.Lys404Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612888T>G | CA370295991 | RP1L1 | c.1210A>C (p.Lys404Gln)
| |
| 8 | g.10612888T= | CA1763379161 | RP1L1 | c.1210A= (p.Lys404=)
| |
| 8 | g.10612889G>A | CA459620115 | RP1L1 | c.1209C>T (p.Pro403=)
| |
| 8 | g.10612889G>C | CA459620117 | RP1L1 | c.1209C>G (p.Pro403=)
| dbSNP |
| 8 | g.10612889G= | CA1763379163 | RP1L1 | c.1209C= (p.Pro403=)
| |
| 8 | g.10612889G>T | CA459620116 | RP1L1 | c.1209C>A (p.Pro403=)
| |
| 8 | g.10612891del | CA2686114059 | RP1L1 | c.1209del (p.Lys404SerfsTer?)
| gnomAD v4 |
| 8 | g.10612890G>A | CA370295993 | RP1L1 | c.1208C>T (p.Pro403Leu)
| |
| 8 | g.10612890G>C | CA370295994 | RP1L1 | c.1208C>G (p.Pro403Arg)
| dbSNP gnomAD v4 |
| 8 | g.10612890G= | CA1763379165 | RP1L1 | c.1208C= (p.Pro403=)
| |
| 8 | g.10612890G>T | CA370295996 | RP1L1 | c.1208C>A (p.Pro403His)
| COSMIC |
| 8 | g.10612891G>A | CA370296000 | RP1L1 | c.1207C>T (p.Pro403Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612891G>C | CA370296003 | RP1L1 | c.1207C>G (p.Pro403Ala)
| gnomAD v4 |
| 8 | g.10612891G= | CA1763379166 | RP1L1 | c.1207C= (p.Pro403=)
| |
| 8 | g.10612891G>T | CA370295998 | RP1L1 | c.1207C>A (p.Pro403Thr)
| gnomAD v4 |
| 8 | g.10612892C>A | CA459620122 | RP1L1 | c.1206G>T (p.Gly402=)
| gnomAD v4 |
| 8 | g.10612892C>G | CA459620123 | RP1L1 | c.1206G>C (p.Gly402=)
| gnomAD v4 |
| 8 | g.10612892C>T | CA459620124 | RP1L1 | c.1206G>A (p.Gly402=)
| gnomAD v4 |
| 8 | g.10612893C>A | CA370296005 | RP1L1 | c.1205G>T (p.Gly402Val)
| |
| 8 | g.10612893C>G | CA370296006 | RP1L1 | c.1205G>C (p.Gly402Ala)
| |
| 8 | g.10612893C>T | CA370296009 | RP1L1 | c.1205G>A (p.Gly402Glu)
| |
| 8 | g.10612894C>A | CA370296011 | RP1L1 | c.1204G>T (p.Gly402Trp)
| |
| 8 | g.10612894C= | CA1763379168 | RP1L1 | c.1204G= (p.Gly402=)
| |
| 8 | g.10612894C>G | CA370296013 | RP1L1 | c.1204G>C (p.Gly402Arg)
| gnomAD v4 |
| 8 | g.10612894C>T | CA4625269 | RP1L1 | c.1204G>A (p.Gly402Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612895T>A | CA459620129 | RP1L1 | c.1203A>T (p.Pro401=)
| |
| 8 | g.10612895T>C | CA459620131 | RP1L1 | c.1203A>G (p.Pro401=)
| |
| 8 | g.10612895T>G | CA459620132 | RP1L1 | c.1203A>C (p.Pro401=)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.10612895T= | CA1763379171 | RP1L1 | c.1203A= (p.Pro401=)
| |
| 8 | g.10612896G>A | CA370296018 | RP1L1 | c.1202C>T (p.Pro401Leu)
| |
| 8 | g.10612896G>C | CA370296015 | RP1L1 | c.1202C>G (p.Pro401Arg)
| dbSNP |
| 8 | g.10612896G= | CA1763379173 | RP1L1 | c.1202C= (p.Pro401=)
| |
| 8 | g.10612896G>T | CA370296017 | RP1L1 | c.1202C>A (p.Pro401Gln)
| gnomAD v4 |
| 8 | g.10612897G>A | CA370296020 | RP1L1 | c.1201C>T (p.Pro401Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612897G>C | CA370296021 | RP1L1 | c.1201C>G (p.Pro401Ala)
| gnomAD v4 |
| 8 | g.10612897G= | CA1763379175 | RP1L1 | c.1201C= (p.Pro401=)
| |
| 8 | g.10612897G>T | CA4625270 | RP1L1 | c.1201C>A (p.Pro401Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612898C>A | CA370296023 | RP1L1 | c.1200G>T (p.Gln400His)
| gnomAD v4 COSMIC |
| 8 | g.10612898C= | CA1763379177 | RP1L1 | c.1200G= (p.Gln400=)
| |
| 8 | g.10612898C>G | CA370296026 | RP1L1 | c.1200G>C (p.Gln400His)
| |
| 8 | g.10612898C>T | CA4625271 | RP1L1 | c.1200G>A (p.Gln400=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612899T>A | CA370296032 | RP1L1 | c.1199A>T (p.Gln400Leu)
| |
| 8 | g.10612899T>C | CA370296034 | RP1L1 | c.1199A>G (p.Gln400Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612899T>G | CA370296029 | RP1L1 | c.1199A>C (p.Gln400Pro)
| gnomAD v4 |
| 8 | g.10612899T= | CA1763379179 | RP1L1 | c.1199A= (p.Gln400=)
| |
| 8 | g.10612900G>A | CA370296040 | RP1L1 | c.1198C>T (p.Gln400Ter)
| gnomAD v4 |
| 8 | g.10612900G>C | CA370296036 | RP1L1 | c.1198C>G (p.Gln400Glu)
| |
| 8 | g.10612900G>T | CA370296038 | RP1L1 | c.1198C>A (p.Gln400Lys)
| |
| 8 | g.10612901C>A | CA459620140 | RP1L1 | c.1197G>T (p.Gly399=)
| |
| 8 | g.10612901C= | CA1763379180 | RP1L1 | c.1197G= (p.Gly399=)
| |
| 8 | g.10612901C>G | CA459620141 | RP1L1 | c.1197G>C (p.Gly399=)
| |
| 8 | g.10612901C>T | CA4625272 | RP1L1 | c.1197G>A (p.Gly399=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612902C>A | CA370296043 | RP1L1 | c.1196G>T (p.Gly399Val)
| gnomAD v4 |
| 8 | g.10612902C= | CA1763379181 | RP1L1 | c.1196G= (p.Gly399=)
| |
| 8 | g.10612902C>G | CA370296045 | RP1L1 | c.1196G>C (p.Gly399Ala)
| |
| 8 | g.10612902C>T | CA370296048 | RP1L1 | c.1196G>A (p.Gly399Glu)
| dbSNP |
| 8 | g.10612903C>A | CA370296049 | RP1L1 | c.1195G>T (p.Gly399Trp)
| COSMIC |
| 8 | g.10612903C= | CA1763379183 | RP1L1 | c.1195G= (p.Gly399=)
| |
| 8 | g.10612903C>G | CA370296050 | RP1L1 | c.1195G>C (p.Gly399Arg)
| dbSNP gnomAD v4 |
| 8 | g.10612903C>T | CA4625273 | RP1L1 | c.1195G>A (p.Gly399Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10612903_10612904delinsCG | CA1763379185 | RP1L1 | c.1194_1195delinsCG (p.Gly398=)
| |
| 8 | g.10612904del | CA845125895 | RP1L1 | c.1194del (p.Gln400SerfsTer?)
| dbSNP gnomAD v4 |
| 8 | g.10612904G>A | CA4625274 | RP1L1 | c.1194C>T (p.Gly398=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612904G>C | CA459620143 | RP1L1 | c.1194C>G (p.Gly398=)
| dbSNP gnomAD v4 |
| 8 | g.10612904G= | CA1763379188 | RP1L1 | c.1194C= (p.Gly398=)
| |
| 8 | g.10612904G>T | CA459620145 | RP1L1 | c.1194C>A (p.Gly398=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612905C>A | CA370296051 | RP1L1 | c.1193G>T (p.Gly398Val)
| |
| 8 | g.10612905C>G | CA370296052 | RP1L1 | c.1193G>C (p.Gly398Ala)
| |
| 8 | g.10612905C>T | CA370296054 | RP1L1 | c.1193G>A (p.Gly398Asp)
| |
| 8 | g.10612906C>A | CA370296059 | RP1L1 | c.1192G>T (p.Gly398Cys)
| |
| 8 | g.10612906C>G | CA370296057 | RP1L1 | c.1192G>C (p.Gly398Arg)
| |
| 8 | g.10612906C>T | CA370296056 | RP1L1 | c.1192G>A (p.Gly398Ser)
| |
| 8 | g.10612907T>A | CA459620148 | RP1L1 | c.1191A>T (p.Arg397=)
| |
| 8 | g.10612907T>C | CA4625275 | RP1L1 | c.1191A>G (p.Arg397=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612907T>G | CA459620149 | RP1L1 | c.1191A>C (p.Arg397=)
| |
| 8 | g.10612907T= | CA1763379190 | RP1L1 | c.1191A= (p.Arg397=)
| |
| 8 | g.10612908C>A | CA370296061 | RP1L1 | c.1190G>T (p.Arg397Leu)
| gnomAD v4 |
| 8 | g.10612908C= | CA1763379192 | RP1L1 | c.1190G= (p.Arg397=)
| |
| 8 | g.10612908C>G | CA370296063 | RP1L1 | c.1190G>C (p.Arg397Pro)
| |
| 8 | g.10612908C>T | CA4625276 | RP1L1 | c.1190G>A (p.Arg397Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612909G>A | CA4625277 | RP1L1 | c.1189C>T (p.Arg397Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612909G>C | CA171947826 | RP1L1 | c.1189C>G (p.Arg397Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612909G= | CA1763379194 | RP1L1 | c.1189C= (p.Arg397=)
| |
| 8 | g.10612909G>T | CA459620150 | RP1L1 | c.1189C>A (p.Arg397=)
| |
| 8 | g.10612910G>A | CA171947828 | RP1L1 | c.1188C>T (p.Gly396=)
| dbSNP |
| 8 | g.10612910G>C | CA459620151 | RP1L1 | c.1188C>G (p.Gly396=)
| |
| 8 | g.10612910G= | CA1763379196 | RP1L1 | c.1188C= (p.Gly396=)
| |
| 8 | g.10612910G>T | CA459620152 | RP1L1 | c.1188C>A (p.Gly396=)
| |
| 8 | g.10612911C>A | CA370296067 | RP1L1 | c.1187G>T (p.Gly396Val)
| |
| 8 | g.10612911C>G | CA370296068 | RP1L1 | c.1187G>C (p.Gly396Ala)
| |
| 8 | g.10612911C>T | CA370296069 | RP1L1 | c.1187G>A (p.Gly396Asp)
| |
| 8 | g.10612912C>A | CA370296070 | RP1L1 | c.1186G>T (p.Gly396Cys)
| dbSNP |
| 8 | g.10612912C>G | CA370296072 | RP1L1 | c.1186G>C (p.Gly396Arg)
| gnomAD v4 |
| 8 | g.10612912C>T | CA370296073 | RP1L1 | c.1186G>A (p.Gly396Ser)
| |
| 8 | g.10612913A= | CA1763379198 | RP1L1 | c.1185T= (p.Phe395=)
| |
| 8 | g.10612913A>C | CA370296075 | RP1L1 | c.1185T>G (p.Phe395Leu)
| |
| 8 | g.10612913A>G | CA459620154 | RP1L1 | c.1185T>C (p.Phe395=)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612913A>T | CA370296076 | RP1L1 | c.1185T>A (p.Phe395Leu)
| |
| 8 | g.10612914A>C | CA370296080 | RP1L1 | c.1184T>G (p.Phe395Cys)
| |
| 8 | g.10612914A>G | CA370296082 | RP1L1 | c.1184T>C (p.Phe395Ser)
| |
| 8 | g.10612914A>T | CA370296078 | RP1L1 | c.1184T>A (p.Phe395Tyr)
| |
| 8 | g.10612915A>C | CA370296083 | RP1L1 | c.1183T>G (p.Phe395Val)
| |
| 8 | g.10612915A>G | CA370296085 | RP1L1 | c.1183T>C (p.Phe395Leu)
| |
| 8 | g.10612915A>T | CA370296087 | RP1L1 | c.1183T>A (p.Phe395Ile)
| |
| 8 | g.10612916G>A | CA459620157 | RP1L1 | c.1182C>T (p.Val394=)
| |
| 8 | g.10612916G>C | CA459620158 | RP1L1 | c.1182C>G (p.Val394=)
| dbSNP |
| 8 | g.10612916G= | CA1763379200 | RP1L1 | c.1182C= (p.Val394=)
| |
| 8 | g.10612916G>T | CA459620160 | RP1L1 | c.1182C>A (p.Val394=)
| gnomAD v4 |
| 8 | g.10612917A= | CA1763379202 | RP1L1 | c.1181T= (p.Val394=)
| |
| 8 | g.10612917A>C | CA370296088 | RP1L1 | c.1181T>G (p.Val394Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612917A>G | CA370296090 | RP1L1 | c.1181T>C (p.Val394Ala)
| dbSNP |
| 8 | g.10612917A>T | CA370296092 | RP1L1 | c.1181T>A (p.Val394Asp)
| |
| 8 | g.10612918C>A | CA370296093 | RP1L1 | c.1180G>T (p.Val394Phe)
| |
| 8 | g.10612918C>G | CA370296095 | RP1L1 | c.1180G>C (p.Val394Leu)
| |
| 8 | g.10612918C>T | CA370296097 | RP1L1 | c.1180G>A (p.Val394Ile)
| |
| 8 | g.10612919T>A | CA370296099 | RP1L1 | c.1179A>T (p.Glu393Asp)
| |
| 8 | g.10612919T>C | CA459620166 | RP1L1 | c.1179A>G (p.Glu393=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612919T>G | CA370296100 | RP1L1 | c.1179A>C (p.Glu393Asp)
| |
| 8 | g.10612919T= | CA1763379206 | RP1L1 | c.1179A= (p.Glu393=)
| |
| 8 | g.10612919_10612927delinsTTCCCTGCA | CA1763379205 | RP1L1 | c.1171_1179delinsTGCAGGGAA (p.Cys391=)
| |
| 8 | g.10612920T>A | CA370296108 | RP1L1 | c.1178A>T (p.Glu393Val)
| |
| 8 | g.10612920T>C | CA370296106 | RP1L1 | c.1178A>G (p.Glu393Gly)
| |
| 8 | g.10612920T>G | CA370296104 | RP1L1 | c.1178A>C (p.Glu393Ala)
| |
| 8 | g.10612924_10612931del | CA4625278 | RP1L1 | c.1171_1178del (p.Cys391SerfsTer13)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612924_10612992del | CA2779032952 | RP1L1 | c.1110_1178del (p.Gly371_Glu393del)
| |
| 8 | g.10612921C>A | CA370296111 | RP1L1 | c.1177G>T (p.Glu393Ter)
| |
| 8 | g.10612921C>G | CA370296112 | RP1L1 | c.1177G>C (p.Glu393Gln)
| |
| 8 | g.10612921C>T | CA370296113 | RP1L1 | c.1177G>A (p.Glu393Lys)
| COSMIC |
| 8 | g.10612928_10612939del | CA2579091975 | RP1L1 | c.1166_1177del (p.Val389_Arg392del)
| |
| 8 | g.10612922C>A | CA370296115 | RP1L1 | c.1176G>T (p.Arg392Ser)
| gnomAD v4 |
| 8 | g.10612922C>G | CA370296117 | RP1L1 | c.1176G>C (p.Arg392Ser)
| |
| 8 | g.10612922C>T | CA459620174 | RP1L1 | c.1176G>A (p.Arg392=)
| |
| 8 | g.10612922_10612923insA | CA2779032953 | RP1L1 | c.1175_1176insT (p.Arg392SerfsTer15)
| |
| 8 | g.10612923C>A | CA370296119 | RP1L1 | c.1175G>T (p.Arg392Met)
| COSMIC |
| 8 | g.10612923C>G | CA370296121 | RP1L1 | c.1175G>C (p.Arg392Thr)
| gnomAD v4 |
| 8 | g.10612923C>T | CA370296123 | RP1L1 | c.1175G>A (p.Arg392Lys)
| COSMIC |
| 8 | g.10612924T>A | CA370296125 | RP1L1 | c.1174A>T (p.Arg392Trp)
| dbSNP |
| 8 | g.10612924T>C | CA370296126 | RP1L1 | c.1174A>G (p.Arg392Gly)
| |
| 8 | g.10612924T>G | CA459619855 | RP1L1 | c.1174A>C (p.Arg392=)
| gnomAD v4 |
| 8 | g.10612925G>A | CA459619856 | RP1L1 | c.1173C>T (p.Cys391=)
| dbSNP |
| 8 | g.10612925G>C | CA370296127 | RP1L1 | c.1173C>G (p.Cys391Trp)
| |
| 8 | g.10612925G= | CA1763379209 | RP1L1 | c.1173C= (p.Cys391=)
| |
| 8 | g.10612925G>T | CA4625279 | RP1L1 | c.1173C>A (p.Cys391Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612926C>A | CA370296132 | RP1L1 | c.1172G>T (p.Cys391Phe)
| gnomAD v4 |
| 8 | g.10612926C>G | CA370296130 | RP1L1 | c.1172G>C (p.Cys391Ser)
| |
| 8 | g.10612926C>T | CA370296129 | RP1L1 | c.1172G>A (p.Cys391Tyr)
| gnomAD v4 |
| 8 | g.10612927A= | CA1763379211 | RP1L1 | c.1171T= (p.Cys391=)
| |
| 8 | g.10612927A>C | CA370296134 | RP1L1 | c.1171T>G (p.Cys391Gly)
| |
| 8 | g.10612927A>G | CA370296138 | RP1L1 | c.1171T>C (p.Cys391Arg)
| |
| 8 | g.10612927A>T | CA370296136 | RP1L1 | c.1171T>A (p.Cys391Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612928T>A | CA459619858 | RP1L1 | c.1170A>T (p.Gly390=)
| |
| 8 | g.10612928T>C | CA459619859 | RP1L1 | c.1170A>G (p.Gly390=)
| |
| 8 | g.10612928T>G | CA459619860 | RP1L1 | c.1170A>C (p.Gly390=)
| |
| 8 | g.10612929C>A | CA370296140 | RP1L1 | c.1169G>T (p.Gly390Val)
| |
| 8 | g.10612929C= | CA1763379212 | RP1L1 | c.1169G= (p.Gly390=)
| |
| 8 | g.10612929C>G | CA171947832 | RP1L1 | c.1169G>C (p.Gly390Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612929C>T | CA4625280 | RP1L1 | c.1169G>A (p.Gly390Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612930C>A | CA370296143 | RP1L1 | c.1168G>T (p.Gly390Ter)
| |
| 8 | g.10612930C= | CA1763379215 | RP1L1 | c.1168G= (p.Gly390=)
| |
| 8 | g.10612930C>G | CA370296145 | RP1L1 | c.1168G>C (p.Gly390Arg)
| dbSNP |
| 8 | g.10612930C>T | CA370296147 | RP1L1 | c.1168G>A (p.Gly390Arg)
| |
| 8 | g.10612931C>A | CA459619863 | RP1L1 | c.1167G>T (p.Val389=)
| |
| 8 | g.10612931C= | CA1763379216 | RP1L1 | c.1167G= (p.Val389=)
| |
| 8 | g.10612931C>G | CA459619864 | RP1L1 | c.1167G>C (p.Val389=)
| |
| 8 | g.10612931C>T | CA459619865 | RP1L1 | c.1167G>A (p.Val389=)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612932A>C | CA370296150 | RP1L1 | c.1166T>G (p.Val389Gly)
| |
| 8 | g.10612932A>G | CA370296151 | RP1L1 | c.1166T>C (p.Val389Ala)
| |
| 8 | g.10612932A>T | CA370296153 | RP1L1 | c.1166T>A (p.Val389Glu)
| |
| 8 | g.10612933C>A | CA370296155 | RP1L1 | c.1165G>T (p.Val389Leu)
| |
| 8 | g.10612933C= | CA1763379218 | RP1L1 | c.1165G= (p.Val389=)
| |
| 8 | g.10612933C>G | CA370296157 | RP1L1 | c.1165G>C (p.Val389Leu)
| gnomAD v4 |
| 8 | g.10612933C>T | CA4625281 | RP1L1 | c.1165G>A (p.Val389Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612934C>A | CA4625282 | RP1L1 | c.1164G>T (p.Arg388Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612934C= | CA1763379220 | RP1L1 | c.1164G= (p.Arg388=)
| |
| 8 | g.10612934C>G | CA370296160 | RP1L1 | c.1164G>C (p.Arg388Ser)
| |
| 8 | g.10612934C>T | CA459619867 | RP1L1 | c.1164G>A (p.Arg388=)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612935C>A | CA370296162 | RP1L1 | c.1163G>T (p.Arg388Met)
| |
| 8 | g.10612935C= | CA1763379222 | RP1L1 | c.1163G= (p.Arg388=)
| |
| 8 | g.10612935C>G | CA370296164 | RP1L1 | c.1163G>C (p.Arg388Thr)
| dbSNP gnomAD v4 |
| 8 | g.10612935C>T | CA4625283 | RP1L1 | c.1163G>A (p.Arg388Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612936T>A | CA370296166 | RP1L1 | c.1162A>T (p.Arg388Trp)
| dbSNP |
| 8 | g.10612936T>C | CA370296167 | RP1L1 | c.1162A>G (p.Arg388Gly)
| |
| 8 | g.10612936T>G | CA4625284 | RP1L1 | c.1162A>C (p.Arg388=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612936T= | CA1763379224 | RP1L1 | c.1162A= (p.Arg388=)
| |
| 8 | g.10612937G>A | CA459619870 | RP1L1 | c.1161C>T (p.Cys387=)
| |
| 8 | g.10612937G>C | CA370296169 | RP1L1 | c.1161C>G (p.Cys387Trp)
| |
| 8 | g.10612937G>T | CA370296171 | RP1L1 | c.1161C>A (p.Cys387Ter)
| |
| 8 | g.10612938C>A | CA4625285 | RP1L1 | c.1160G>T (p.Cys387Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612938C= | CA1763379226 | RP1L1 | c.1160G= (p.Cys387=)
| |
| 8 | g.10612938C>G | CA4625286 | RP1L1 | c.1160G>C (p.Cys387Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612938C>T | CA370296175 | RP1L1 | c.1160G>A (p.Cys387Tyr)
| |
| 8 | g.10612939A>C | CA370296179 | RP1L1 | c.1159T>G (p.Cys387Gly)
| |
| 8 | g.10612939A>G | CA370296180 | RP1L1 | c.1159T>C (p.Cys387Arg)
| gnomAD v4 |
| 8 | g.10612939A>T | CA370296177 | RP1L1 | c.1159T>A (p.Cys387Ser)
| |
| 8 | g.10612940G>A | CA4625287 | RP1L1 | c.1158C>T (p.Pro386=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612940G>C | CA459619873 | RP1L1 | c.1158C>G (p.Pro386=)
| |
| 8 | g.10612940G= | CA1763379228 | RP1L1 | c.1158C= (p.Pro386=)
| |
| 8 | g.10612940G>T | CA459619874 | RP1L1 | c.1158C>A (p.Pro386=)
| gnomAD v4 |
