| 8 | g.10612468C>A | CA4625106 | RP1L1 | c.1630G>T (p.Gly544Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612468C= | CA1763378561 | RP1L1 | c.1630G= (p.Gly544=)
| |
| 8 | g.10612468C>G | CA370295146 | RP1L1 | c.1630G>C (p.Gly544Arg)
| |
| 8 | g.10612468C>T | CA370295147 | RP1L1 | c.1630G>A (p.Gly544Arg)
| |
| 8 | g.10612469C>A | CA370295149 | RP1L1 | c.1629G>T (p.Glu543Asp)
| |
| 8 | g.10612469C= | CA1763378562 | RP1L1 | c.1629G= (p.Glu543=)
| |
| 8 | g.10612469C>G | CA370295148 | RP1L1 | c.1629G>C (p.Glu543Asp)
| gnomAD v4 |
| 8 | g.10612469C>T | CA459619700 | RP1L1 | c.1629G>A (p.Glu543=)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612470T>A | CA370295150 | RP1L1 | c.1628A>T (p.Glu543Val)
| ClinVar |
| 8 | g.10612470T>C | CA370295152 | RP1L1 | c.1628A>G (p.Glu543Gly)
| |
| 8 | g.10612470T>G | CA370295151 | RP1L1 | c.1628A>C (p.Glu543Ala)
| |
| 8 | g.10612471C>A | CA370295153 | RP1L1 | c.1627G>T (p.Glu543Ter)
| |
| 8 | g.10612471C= | CA1763378564 | RP1L1 | c.1627G= (p.Glu543=)
| |
| 8 | g.10612471C>G | CA370295155 | RP1L1 | c.1627G>C (p.Glu543Gln)
| |
| 8 | g.10612471C>T | CA370295154 | RP1L1 | c.1627G>A (p.Glu543Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612472A= | CA1763378566 | RP1L1 | c.1626T= (p.His542=)
| |
| 8 | g.10612472A>C | CA4625107 | RP1L1 | c.1626T>G (p.His542Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612472A>G | CA459619703 | RP1L1 | c.1626T>C (p.His542=)
| gnomAD v4 |
| 8 | g.10612472A>T | CA370295156 | RP1L1 | c.1626T>A (p.His542Gln)
| |
| 8 | g.10612473T>A | CA370295157 | RP1L1 | c.1625A>T (p.His542Leu)
| dbSNP gnomAD v4 |
| 8 | g.10612473T>C | CA370295158 | RP1L1 | c.1625A>G (p.His542Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612473T>G | CA370295159 | RP1L1 | c.1625A>C (p.His542Pro)
| |
| 8 | g.10612473T= | CA1763378568 | RP1L1 | c.1625A= (p.His542=)
| |
| 8 | g.10612474G>A | CA370295160 | RP1L1 | c.1624C>T (p.His542Tyr)
| |
| 8 | g.10612474G>C | CA370295161 | RP1L1 | c.1624C>G (p.His542Asp)
| |
| 8 | g.10612474G>T | CA370295162 | RP1L1 | c.1624C>A (p.His542Asn)
| |
| 8 | g.10612475A>C | CA459619712 | RP1L1 | c.1623T>G (p.Ser541=)
| |
| 8 | g.10612475A>G | CA459619713 | RP1L1 | c.1623T>C (p.Ser541=)
| gnomAD v4 |
| 8 | g.10612475A>T | CA459619715 | RP1L1 | c.1623T>A (p.Ser541=)
| |
| 8 | g.10612476G>A | CA370295163 | RP1L1 | c.1622C>T (p.Ser541Phe)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612476G>C | CA370295164 | RP1L1 | c.1622C>G (p.Ser541Cys)
| gnomAD v4 |
| 8 | g.10612476G= | CA1763378570 | RP1L1 | c.1622C= (p.Ser541=)
| |
| 8 | g.10612476G>T | CA370295165 | RP1L1 | c.1622C>A (p.Ser541Tyr)
| gnomAD v4 |
| 8 | g.10612477A>C | CA370295168 | RP1L1 | c.1621T>G (p.Ser541Ala)
| |
| 8 | g.10612477A>G | CA370295167 | RP1L1 | c.1621T>C (p.Ser541Pro)
| |
| 8 | g.10612477A>T | CA370295166 | RP1L1 | c.1621T>A (p.Ser541Thr)
| |
| 8 | g.10612478G>A | CA459619720 | RP1L1 | c.1620C>T (p.Gly540=)
| dbSNP |
| 8 | g.10612478G>C | CA459619721 | RP1L1 | c.1620C>G (p.Gly540=)
| |
| 8 | g.10612478G= | CA1763378571 | RP1L1 | c.1620C= (p.Gly540=)
| |
| 8 | g.10612478G>T | CA459619719 | RP1L1 | c.1620C>A (p.Gly540=)
| |
| 8 | g.10612479C>A | CA370295169 | RP1L1 | c.1619G>T (p.Gly540Val)
| |
| 8 | g.10612479C>G | CA370295170 | RP1L1 | c.1619G>C (p.Gly540Ala)
| gnomAD v4 |
| 8 | g.10612479C>T | CA370295171 | RP1L1 | c.1619G>A (p.Gly540Asp)
| gnomAD v4 |
| 8 | g.10612480C>A | CA370295172 | RP1L1 | c.1618G>T (p.Gly540Cys)
| |
| 8 | g.10612480C= | CA1763378572 | RP1L1 | c.1618G= (p.Gly540=)
| |
| 8 | g.10612480C>G | CA370295173 | RP1L1 | c.1618G>C (p.Gly540Arg)
| |
| 8 | g.10612480C>T | CA4625108 | RP1L1 | c.1618G>A (p.Gly540Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612481G>A | CA4625109 | RP1L1 | c.1617C>T (p.Thr539=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612481G>C | CA459619725 | RP1L1 | c.1617C>G (p.Thr539=)
| dbSNP gnomAD v4 |
| 8 | g.10612481G= | CA1763378576 | RP1L1 | c.1617C= (p.Thr539=)
| |
| 8 | g.10612481G>T | CA171947616 | RP1L1 | c.1617C>A (p.Thr539=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612482G>A | CA370295174 | RP1L1 | c.1616C>T (p.Thr539Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612482G>C | CA370295175 | RP1L1 | c.1616C>G (p.Thr539Ser)
| gnomAD v4 |
| 8 | g.10612482G= | CA1763378579 | RP1L1 | c.1616C= (p.Thr539=)
| |
| 8 | g.10612482G>T | CA370295176 | RP1L1 | c.1616C>A (p.Thr539Asn)
| |
| 8 | g.10612483T>A | CA370295179 | RP1L1 | c.1615A>T (p.Thr539Ser)
| |
| 8 | g.10612483T>C | CA370295178 | RP1L1 | c.1615A>G (p.Thr539Ala)
| |
| 8 | g.10612483T>G | CA370295177 | RP1L1 | c.1615A>C (p.Thr539Pro)
| gnomAD v4 |
| 8 | g.10612484G>A | CA459619734 | RP1L1 | c.1614C>T (p.Ser538=)
| dbSNP |
| 8 | g.10612484G>C | CA370295180 | RP1L1 | c.1614C>G (p.Ser538Arg)
| gnomAD v4 |
| 8 | g.10612484G>T | CA370295181 | RP1L1 | c.1614C>A (p.Ser538Arg)
| |
| 8 | g.10612485C>A | CA370295182 | RP1L1 | c.1613G>T (p.Ser538Ile)
| |
| 8 | g.10612485C= | CA1763378582 | RP1L1 | c.1613G= (p.Ser538=)
| |
| 8 | g.10612485C>G | CA370295183 | RP1L1 | c.1613G>C (p.Ser538Thr)
| |
| 8 | g.10612485C>T | CA370295184 | RP1L1 | c.1613G>A (p.Ser538Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612486T>A | CA370295185 | RP1L1 | c.1612A>T (p.Ser538Cys)
| |
| 8 | g.10612486T>C | CA370295186 | RP1L1 | c.1612A>G (p.Ser538Gly)
| gnomAD v4 |
| 8 | g.10612486T>G | CA370295187 | RP1L1 | c.1612A>C (p.Ser538Arg)
| gnomAD v4 |
| 8 | g.10612487G>A | CA459619739 | RP1L1 | c.1611C>T (p.Ala537=)
| dbSNP gnomAD v2 |
| 8 | g.10612487G>C | CA459619740 | RP1L1 | c.1611C>G (p.Ala537=)
| |
| 8 | g.10612487G= | CA1763378584 | RP1L1 | c.1611C= (p.Ala537=)
| |
| 8 | g.10612487G>T | CA459619742 | RP1L1 | c.1611C>A (p.Ala537=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612488G>A | CA370295188 | RP1L1 | c.1610C>T (p.Ala537Val)
| |
| 8 | g.10612488G>C | CA370295189 | RP1L1 | c.1610C>G (p.Ala537Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612488G= | CA1763378585 | RP1L1 | c.1610C= (p.Ala537=)
| |
| 8 | g.10612488G>T | CA370295190 | RP1L1 | c.1610C>A (p.Ala537Asp)
| gnomAD v4 |
| 8 | g.10612489C>A | CA370295191 | RP1L1 | c.1609G>T (p.Ala537Ser)
| |
| 8 | g.10612489C>G | CA370295192 | RP1L1 | c.1609G>C (p.Ala537Pro)
| |
| 8 | g.10612489C>T | CA370295193 | RP1L1 | c.1609G>A (p.Ala537Thr)
| |
| 8 | g.10612490T>A | CA459619746 | RP1L1 | c.1608A>T (p.Ser536=)
| |
| 8 | g.10612490T>C | CA4625110 | RP1L1 | c.1608A>G (p.Ser536=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612490T>G | CA459619750 | RP1L1 | c.1608A>C (p.Ser536=)
| |
| 8 | g.10612490T= | CA1763378586 | RP1L1 | c.1608A= (p.Ser536=)
| |
| 8 | g.10612491G>A | CA370295194 | RP1L1 | c.1607C>T (p.Ser536Leu)
| |
| 8 | g.10612491G>C | CA370295195 | RP1L1 | c.1607C>G (p.Ser536Ter)
| |
| 8 | g.10612491G>T | CA370295196 | RP1L1 | c.1607C>A (p.Ser536Ter)
| |
| 8 | g.10612492A>C | CA370295197 | RP1L1 | c.1606T>G (p.Ser536Ala)
| |
| 8 | g.10612492A>G | CA370295198 | RP1L1 | c.1606T>C (p.Ser536Pro)
| |
| 8 | g.10612492A>T | CA370295199 | RP1L1 | c.1606T>A (p.Ser536Thr)
| |
| 8 | g.10612493C>A | CA459619753 | RP1L1 | c.1605G>T (p.Ser535=)
| dbSNP |
| 8 | g.10612493C= | CA1763378589 | RP1L1 | c.1605G= (p.Ser535=)
| |
| 8 | g.10612493C>G | CA459619754 | RP1L1 | c.1605G>C (p.Ser535=)
| gnomAD v4 |
| 8 | g.10612493C>T | CA4625111 | RP1L1 | c.1605G>A (p.Ser535=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612494G>A | CA4625112 | RP1L1 | c.1604C>T (p.Ser535Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612494G>C | CA370295200 | RP1L1 | c.1604C>G (p.Ser535Trp)
| |
| 8 | g.10612494G= | CA1763378592 | RP1L1 | c.1604C= (p.Ser535=)
| |
| 8 | g.10612494G>T | CA370295201 | RP1L1 | c.1604C>A (p.Ser535Ter)
| gnomAD v4 |
| 8 | g.10612495A= | CA1763378594 | RP1L1 | c.1603T= (p.Ser535=)
| |
| 8 | g.10612495A>C | CA370295202 | RP1L1 | c.1603T>G (p.Ser535Ala)
| |
| 8 | g.10612495A>G | CA171947621 | RP1L1 | c.1603T>C (p.Ser535Pro)
| dbSNP gnomAD v4 |
| 8 | g.10612495A>T | CA370295203 | RP1L1 | c.1603T>A (p.Ser535Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612496G>A | CA459619759 | RP1L1 | c.1602C>T (p.Asp534=)
| gnomAD v4 |
| 8 | g.10612496G>C | CA4625113 | RP1L1 | c.1602C>G (p.Asp534Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612496G= | CA1763378596 | RP1L1 | c.1602C= (p.Asp534=)
| |
| 8 | g.10612496G>T | CA370295204 | RP1L1 | c.1602C>A (p.Asp534Glu)
| gnomAD v4 |
| 8 | g.10612497T>A | CA370295205 | RP1L1 | c.1601A>T (p.Asp534Val)
| dbSNP gnomAD v4 |
| 8 | g.10612497T>C | CA4625114 | RP1L1 | c.1601A>G (p.Asp534Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612497T>G | CA370295206 | RP1L1 | c.1601A>C (p.Asp534Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612497T= | CA1763378598 | RP1L1 | c.1601A= (p.Asp534=)
| |
| 8 | g.10612497_10612498dup | CA2686113432 | RP1L1 | c.1600_1601dup (p.Asp534GlufsTer?)
| gnomAD v4 |
| 8 | g.10612498C>A | CA370295207 | RP1L1 | c.1600G>T (p.Asp534Tyr)
| |
| 8 | g.10612498C>G | CA370295208 | RP1L1 | c.1600G>C (p.Asp534His)
| |
| 8 | g.10612498C>T | CA370295209 | RP1L1 | c.1600G>A (p.Asp534Asn)
| gnomAD v4 |
| 8 | g.10612499C>A | CA459619765 | RP1L1 | c.1599G>T (p.Ser533=)
| |
| 8 | g.10612499C= | CA1763378602 | RP1L1 | c.1599G= (p.Ser533=)
| |
| 8 | g.10612499C>G | CA171947624 | RP1L1 | c.1599G>C (p.Ser533=)
| dbSNP |
| 8 | g.10612499C>T | CA4625115 | RP1L1 | c.1599G>A (p.Ser533=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612500G>A | CA4625116 | RP1L1 | c.1598C>T (p.Ser533Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10612500G>C | CA370295210 | RP1L1 | c.1598C>G (p.Ser533Trp)
| gnomAD v4 |
| 8 | g.10612500G= | CA1763378605 | RP1L1 | c.1598C= (p.Ser533=)
| |
| 8 | g.10612500G>T | CA370295211 | RP1L1 | c.1598C>A (p.Ser533Ter)
| |
| 8 | g.10612501A>C | CA370295212 | RP1L1 | c.1597T>G (p.Ser533Ala)
| |
| 8 | g.10612501A>G | CA370295213 | RP1L1 | c.1597T>C (p.Ser533Pro)
| |
| 8 | g.10612501A>T | CA370295214 | RP1L1 | c.1597T>A (p.Ser533Thr)
| |
| 8 | g.10612502A>C | CA459619772 | RP1L1 | c.1596T>G (p.Ser532=)
| |
| 8 | g.10612502A>G | CA459619774 | RP1L1 | c.1596T>C (p.Ser532=)
| |
| 8 | g.10612502A>T | CA459619773 | RP1L1 | c.1596T>A (p.Ser532=)
| |
| 8 | g.10612503G>A | CA4625117 | RP1L1 | c.1595C>T (p.Ser532Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612503G>C | CA370295215 | RP1L1 | c.1595C>G (p.Ser532Cys)
| |
| 8 | g.10612503G= | CA1763378608 | RP1L1 | c.1595C= (p.Ser532=)
| |
| 8 | g.10612503G>T | CA370295216 | RP1L1 | c.1595C>A (p.Ser532Tyr)
| gnomAD v4 |
| 8 | g.10612504A>C | CA370295219 | RP1L1 | c.1594T>G (p.Ser532Ala)
| |
| 8 | g.10612504A>G | CA370295217 | RP1L1 | c.1594T>C (p.Ser532Pro)
| gnomAD v4 |
| 8 | g.10612504A>T | CA370295218 | RP1L1 | c.1594T>A (p.Ser532Thr)
| |
| 8 | g.10612505A>C | CA459619776 | RP1L1 | c.1593T>G (p.Ala531=)
| |
| 8 | g.10612505A>G | CA459619778 | RP1L1 | c.1593T>C (p.Ala531=)
| |
| 8 | g.10612505A>T | CA459619777 | RP1L1 | c.1593T>A (p.Ala531=)
| |
| 8 | g.10612506G>A | CA370295220 | RP1L1 | c.1592C>T (p.Ala531Val)
| |
| 8 | g.10612506G>C | CA370295221 | RP1L1 | c.1592C>G (p.Ala531Gly)
| |
| 8 | g.10612506G>T | CA370295222 | RP1L1 | c.1592C>A (p.Ala531Asp)
| gnomAD v4 |
| 8 | g.10612506_10612507delinsGC | CA1763378610 | RP1L1 | c.1591_1592delinsGC (p.Ala531=)
| |
| 8 | g.10612507C>A | CA370295223 | RP1L1 | c.1591G>T (p.Ala531Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612507C= | CA1763378612 | RP1L1 | c.1591G= (p.Ala531=)
| |
| 8 | g.10612507C>G | CA370295224 | RP1L1 | c.1591G>C (p.Ala531Pro)
| |
| 8 | g.10612507C>T | CA370295225 | RP1L1 | c.1591G>A (p.Ala531Thr)
| dbSNP |
| 8 | g.10612511del | CA580030520 | RP1L1 | c.1591del (p.Ala531LeufsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612508C>A | CA459619785 | RP1L1 | c.1590G>T (p.Gly530=)
| gnomAD v4 |
| 8 | g.10612508C>G | CA459619786 | RP1L1 | c.1590G>C (p.Gly530=)
| |
| 8 | g.10612508C>T | CA459619787 | RP1L1 | c.1590G>A (p.Gly530=)
| |
| 8 | g.10612509C>A | CA4625118 | RP1L1 | c.1589G>T (p.Gly530Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612509C= | CA1763378614 | RP1L1 | c.1589G= (p.Gly530=)
| |
| 8 | g.10612509C>G | CA370295226 | RP1L1 | c.1589G>C (p.Gly530Ala)
| dbSNP |
| 8 | g.10612509C>T | CA370295227 | RP1L1 | c.1589G>A (p.Gly530Glu)
| gnomAD v4 |
| 8 | g.10612510C>A | CA370295228 | RP1L1 | c.1588G>T (p.Gly530Trp)
| |
| 8 | g.10612510C= | CA1763378616 | RP1L1 | c.1588G= (p.Gly530=)
| |
| 8 | g.10612510C>G | CA370295229 | RP1L1 | c.1588G>C (p.Gly530Arg)
| dbSNP gnomAD v4 |
| 8 | g.10612510C>T | CA370295230 | RP1L1 | c.1588G>A (p.Gly530Arg)
| |
| 8 | g.10612511C>A | CA370295231 | RP1L1 | c.1587G>T (p.Glu529Asp)
| |
| 8 | g.10612511C= | CA1763378618 | RP1L1 | c.1587G= (p.Glu529=)
| |
| 8 | g.10612511C>G | CA4625119 | RP1L1 | c.1587G>C (p.Glu529Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10612511C>T | CA459619791 | RP1L1 | c.1587G>A (p.Glu529=)
| gnomAD v4 |
| 8 | g.10612512del | CA2579091971 | RP1L1 | c.1586del (p.Glu529GlyfsTer?)
| |
| 8 | g.10612512T>A | CA370295232 | RP1L1 | c.1586A>T (p.Glu529Val)
| |
| 8 | g.10612512T>C | CA370295233 | RP1L1 | c.1586A>G (p.Glu529Gly)
| |
| 8 | g.10612512T>G | CA370295234 | RP1L1 | c.1586A>C (p.Glu529Ala)
| |
| 8 | g.10612513C>A | CA370295235 | RP1L1 | c.1585G>T (p.Glu529Ter)
| |
| 8 | g.10612513C= | CA1763378620 | RP1L1 | c.1585G= (p.Glu529=)
| |
| 8 | g.10612513C>G | CA370295236 | RP1L1 | c.1585G>C (p.Glu529Gln)
| |
| 8 | g.10612513C>T | CA370295237 | RP1L1 | c.1585G>A (p.Glu529Lys)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.10612514C>A | CA370295238 | RP1L1 | c.1584G>T (p.Glu528Asp)
| |
| 8 | g.10612514C>G | CA370295239 | RP1L1 | c.1584G>C (p.Glu528Asp)
| |
| 8 | g.10612514C>T | CA459619797 | RP1L1 | c.1584G>A (p.Glu528=)
| |
| 8 | g.10612515T>A | CA370295240 | RP1L1 | c.1583A>T (p.Glu528Val)
| |
| 8 | g.10612515T>C | CA370295241 | RP1L1 | c.1583A>G (p.Glu528Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612515T>G | CA370295242 | RP1L1 | c.1583A>C (p.Glu528Ala)
| |
| 8 | g.10612515T= | CA1763378622 | RP1L1 | c.1583A= (p.Glu528=)
| |
| 8 | g.10612516C>A | CA370295243 | RP1L1 | c.1582G>T (p.Glu528Ter)
| |
| 8 | g.10612516C>G | CA370295244 | RP1L1 | c.1582G>C (p.Glu528Gln)
| |
| 8 | g.10612516C>T | CA370295245 | RP1L1 | c.1582G>A (p.Glu528Lys)
| gnomAD v4 |
| 8 | g.10612517A= | CA1763378625 | RP1L1 | c.1581T= (p.Ser527=)
| |
| 8 | g.10612517A>C | CA171947631 | RP1L1 | c.1581T>G (p.Ser527Arg)
| dbSNP |
| 8 | g.10612517A>G | CA459619802 | RP1L1 | c.1581T>C (p.Ser527=)
| |
| 8 | g.10612517A>T | CA370295246 | RP1L1 | c.1581T>A (p.Ser527Arg)
| dbSNP |
| 8 | g.10612518C>A | CA370295247 | RP1L1 | c.1580G>T (p.Ser527Ile)
| |
| 8 | g.10612518C= | CA1763378627 | RP1L1 | c.1580G= (p.Ser527=)
| |
| 8 | g.10612518C>G | CA370295248 | RP1L1 | c.1580G>C (p.Ser527Thr)
| gnomAD v4 |
| 8 | g.10612518C>T | CA4625120 | RP1L1 | c.1580G>A (p.Ser527Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612519T>A | CA4625121 | RP1L1 | c.1579A>T (p.Ser527Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612519T>C | CA370295249 | RP1L1 | c.1579A>G (p.Ser527Gly)
| gnomAD v4 |
| 8 | g.10612519T>G | CA370295250 | RP1L1 | c.1579A>C (p.Ser527Arg)
| |
| 8 | g.10612519T= | CA1763378629 | RP1L1 | c.1579A= (p.Ser527=)
| |
| 8 | g.10612520C>A | CA459619806 | RP1L1 | c.1578G>T (p.Arg526=)
| gnomAD v4 |
| 8 | g.10612520C= | CA1763378631 | RP1L1 | c.1578G= (p.Arg526=)
| |
| 8 | g.10612520C>G | CA171947635 | RP1L1 | c.1578G>C (p.Arg526=)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612520C>T | CA459619807 | RP1L1 | c.1578G>A (p.Arg526=)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612521C>A | CA370295251 | RP1L1 | c.1577G>T (p.Arg526Leu)
| |
| 8 | g.10612521C= | CA1763378633 | RP1L1 | c.1577G= (p.Arg526=)
| |
| 8 | g.10612521C>G | CA4625122 | RP1L1 | c.1577G>C (p.Arg526Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612521C>T | CA370295252 | RP1L1 | c.1577G>A (p.Arg526Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612522G>A | CA4625123 | RP1L1 | c.1576C>T (p.Arg526Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612522G>C | CA370295253 | RP1L1 | c.1576C>G (p.Arg526Gly)
| dbSNP gnomAD v4 |
| 8 | g.10612522G= | CA1763378635 | RP1L1 | c.1576C= (p.Arg526=)
| |
| 8 | g.10612522G>T | CA459619811 | RP1L1 | c.1576C>A (p.Arg526=)
| gnomAD v4 |
| 8 | g.10612523G>A | CA459619812 | RP1L1 | c.1575C>T (p.Ala525=)
| dbSNP gnomAD v2 |
| 8 | g.10612523G>C | CA459619813 | RP1L1 | c.1575C>G (p.Ala525=)
| gnomAD v4 |
| 8 | g.10612523G= | CA1763378637 | RP1L1 | c.1575C= (p.Ala525=)
| |
| 8 | g.10612523G>T | CA4625124 | RP1L1 | c.1575C>A (p.Ala525=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612524G>A | CA370295254 | RP1L1 | c.1574C>T (p.Ala525Val)
| gnomAD v4 |
| 8 | g.10612524G>C | CA370295256 | RP1L1 | c.1574C>G (p.Ala525Gly)
| gnomAD v4 |
| 8 | g.10612524G>T | CA370295255 | RP1L1 | c.1574C>A (p.Ala525Asp)
| gnomAD v4 |
| 8 | g.10612525C>A | CA4625125 | RP1L1 | c.1573G>T (p.Ala525Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612525C= | CA1763378640 | RP1L1 | c.1573G= (p.Ala525=)
| |
| 8 | g.10612525C>G | CA370295258 | RP1L1 | c.1573G>C (p.Ala525Pro)
| |
| 8 | g.10612525C>T | CA370295257 | RP1L1 | c.1573G>A (p.Ala525Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612526C>A | CA370295259 | RP1L1 | c.1572G>T (p.Arg524Ser)
| |
| 8 | g.10612526C= | CA1763378641 | RP1L1 | c.1572G= (p.Arg524=)
| |
| 8 | g.10612526C>G | CA370295260 | RP1L1 | c.1572G>C (p.Arg524Ser)
| |
| 8 | g.10612526C>T | CA459619815 | RP1L1 | c.1572G>A (p.Arg524=)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612527C>A | CA370295261 | RP1L1 | c.1571G>T (p.Arg524Met)
| |
| 8 | g.10612527C= | CA1763378643 | RP1L1 | c.1571G= (p.Arg524=)
| |
| 8 | g.10612527C>G | CA370295263 | RP1L1 | c.1571G>C (p.Arg524Thr)
| gnomAD v4 |
| 8 | g.10612527C>T | CA370295262 | RP1L1 | c.1571G>A (p.Arg524Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612528T>A | CA370295264 | RP1L1 | c.1570A>T (p.Arg524Trp)
| |
| 8 | g.10612528T>C | CA4625126 | RP1L1 | c.1570A>G (p.Arg524Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612528T>G | CA459619816 | RP1L1 | c.1570A>C (p.Arg524=)
| |
| 8 | g.10612528T= | CA1763378644 | RP1L1 | c.1570A= (p.Arg524=)
| |
| 8 | g.10612529C>A | CA171947641 | RP1L1 | c.1569G>T (p.Pro523=)
| dbSNP gnomAD v4 |
| 8 | g.10612529C= | CA1763378647 | RP1L1 | c.1569G= (p.Pro523=)
| |
| 8 | g.10612529C>G | CA459619818 | RP1L1 | c.1569G>C (p.Pro523=)
| dbSNP |
| 8 | g.10612529C>T | CA459619817 | RP1L1 | c.1569G>A (p.Pro523=)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612530G>A | CA370295265 | RP1L1 | c.1568C>T (p.Pro523Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10612530G>C | CA370295266 | RP1L1 | c.1568C>G (p.Pro523Arg)
| |
| 8 | g.10612530G= | CA1763378649 | RP1L1 | c.1568C= (p.Pro523=)
| |
| 8 | g.10612530G>T | CA370295267 | RP1L1 | c.1568C>A (p.Pro523Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612531G>A | CA370295268 | RP1L1 | c.1567C>T (p.Pro523Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612531G>C | CA370295269 | RP1L1 | c.1567C>G (p.Pro523Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612531G= | CA1763378651 | RP1L1 | c.1567C= (p.Pro523=)
| |
| 8 | g.10612531G>T | CA370295270 | RP1L1 | c.1567C>A (p.Pro523Thr)
| gnomAD v4 |
| 8 | g.10612532T>A | CA459619819 | RP1L1 | c.1566A>T (p.Thr522=)
| |
| 8 | g.10612532T>C | CA459619820 | RP1L1 | c.1566A>G (p.Thr522=)
| |
| 8 | g.10612532T>G | CA459619821 | RP1L1 | c.1566A>C (p.Thr522=)
| |
| 8 | g.10612533G>A | CA370295271 | RP1L1 | c.1565C>T (p.Thr522Ile)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612533G>C | CA370295272 | RP1L1 | c.1565C>G (p.Thr522Arg)
| |
| 8 | g.10612533G= | CA1763378653 | RP1L1 | c.1565C= (p.Thr522=)
| |
| 8 | g.10612533G>T | CA370295273 | RP1L1 | c.1565C>A (p.Thr522Lys)
| gnomAD v4 |
| 8 | g.10612534T>A | CA370295276 | RP1L1 | c.1564A>T (p.Thr522Ser)
| dbSNP |
| 8 | g.10612534T>C | CA370295275 | RP1L1 | c.1564A>G (p.Thr522Ala)
| gnomAD v4 |
| 8 | g.10612534T>G | CA370295274 | RP1L1 | c.1564A>C (p.Thr522Pro)
| |
| 8 | g.10612534T= | CA1763378655 | RP1L1 | c.1564A= (p.Thr522=)
| |
| 8 | g.10612535C>A | CA4625127 | RP1L1 | c.1563G>T (p.Leu521=)
| dbSNP ExAC gnomAD v2 |
| 8 | g.10612535C= | CA1763378657 | RP1L1 | c.1563G= (p.Leu521=)
| |
| 8 | g.10612535C>G | CA459619823 | RP1L1 | c.1563G>C (p.Leu521=)
| |
| 8 | g.10612535C>T | CA171947644 | RP1L1 | c.1563G>A (p.Leu521=)
| dbSNP gnomAD v4 |
| 8 | g.10612536A>C | CA370295277 | RP1L1 | c.1562T>G (p.Leu521Arg)
| |
| 8 | g.10612536A>G | CA370295278 | RP1L1 | c.1562T>C (p.Leu521Pro)
| gnomAD v4 |
| 8 | g.10612536A>T | CA370295279 | RP1L1 | c.1562T>A (p.Leu521Gln)
| gnomAD v4 |
| 8 | g.10612537G>A | CA459619824 | RP1L1 | c.1561C>T (p.Leu521=)
| gnomAD v4 |
| 8 | g.10612537G>C | CA370295280 | RP1L1 | c.1561C>G (p.Leu521Val)
| |
| 8 | g.10612537G>T | CA370295281 | RP1L1 | c.1561C>A (p.Leu521Met)
| |
| 8 | g.10612538G>A | CA171947647 | RP1L1 | c.1560C>T (p.Arg520=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612538G>C | CA459619825 | RP1L1 | c.1560C>G (p.Arg520=)
| |
| 8 | g.10612538G= | CA1763378659 | RP1L1 | c.1560C= (p.Arg520=)
| |
| 8 | g.10612538G>T | CA4625128 | RP1L1 | c.1560C>A (p.Arg520=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612539C>A | CA370295282 | RP1L1 | c.1559G>T (p.Arg520Leu)
| |
| 8 | g.10612539C= | CA1763378661 | RP1L1 | c.1559G= (p.Arg520=)
| |
| 8 | g.10612539C>G | CA370295283 | RP1L1 | c.1559G>C (p.Arg520Pro)
| |
| 8 | g.10612539C>T | CA4625129 | RP1L1 | c.1559G>A (p.Arg520His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612540G>A | CA4625130 | RP1L1 | c.1558C>T (p.Arg520Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612540G>C | CA370295285 | RP1L1 | c.1558C>G (p.Arg520Gly)
| |
| 8 | g.10612540G= | CA1763378664 | RP1L1 | c.1558C= (p.Arg520=)
| |
| 8 | g.10612540G>T | CA370295284 | RP1L1 | c.1558C>A (p.Arg520Ser)
| gnomAD v4 |
| 8 | g.10612540_10612558delinsGGCCGCCTTGCTCTGGGCC | CA1763378663 | RP1L1 | c.1540_1558delinsGGCCCAGAGCAAGGCGGCC (p.Gly514=)
| |
| 8 | g.10612547_10612561dup | CA845124996 | RP1L1 | c.1544_1558dup (p.Gly519_Arg520insProGluGlnGlyGly)
| dbSNP |
| 8 | g.10612541G>A | CA171947650 | RP1L1 | c.1557C>T (p.Gly519=)
| dbSNP gnomAD v4 |
| 8 | g.10612541G>C | CA459619877 | RP1L1 | c.1557C>G (p.Gly519=)
| |
| 8 | g.10612541G= | CA1763378667 | RP1L1 | c.1557C= (p.Gly519=)
| |
| 8 | g.10612541G>T | CA459619875 | RP1L1 | c.1557C>A (p.Gly519=)
| gnomAD v4 |
| 8 | g.10612544_10612561del | CA4625131 | RP1L1 | c.1540_1557del (p.Gly514_Gly519del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612542C>A | CA370295286 | RP1L1 | c.1556G>T (p.Gly519Val)
| |
| 8 | g.10612542C= | CA1763378669 | RP1L1 | c.1556G= (p.Gly519=)
| |
| 8 | g.10612542C>G | CA370295287 | RP1L1 | c.1556G>C (p.Gly519Ala)
| |
| 8 | g.10612542C>T | CA370295288 | RP1L1 | c.1556G>A (p.Gly519Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612543C>A | CA370295289 | RP1L1 | c.1555G>T (p.Gly519Cys)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612543C= | CA1763378673 | RP1L1 | c.1555G= (p.Gly519=)
| |
| 8 | g.10612543C>G | CA370295290 | RP1L1 | c.1555G>C (p.Gly519Arg)
| |
| 8 | g.10612543C>T | CA4625132 | RP1L1 | c.1555G>A (p.Gly519Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10612544G>A | CA4625133 | RP1L1 | c.1554C>T (p.Gly518=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612544G>C | CA459619885 | RP1L1 | c.1554C>G (p.Gly518=)
| |
| 8 | g.10612544G= | CA1763378675 | RP1L1 | c.1554C= (p.Gly518=)
| |
| 8 | g.10612544G>T | CA459619883 | RP1L1 | c.1554C>A (p.Gly518=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612545C>A | CA4625134 | RP1L1 | c.1553G>T (p.Gly518Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612545C= | CA1763378677 | RP1L1 | c.1553G= (p.Gly518=)
| |
| 8 | g.10612545C>G | CA370295291 | RP1L1 | c.1553G>C (p.Gly518Ala)
| |
| 8 | g.10612545C>T | CA370295292 | RP1L1 | c.1553G>A (p.Gly518Asp)
| COSMIC |
| 8 | g.10612546C>A | CA370295294 | RP1L1 | c.1552G>T (p.Gly518Cys)
| dbSNP gnomAD v4 |
| 8 | g.10612546C= | CA1763378678 | RP1L1 | c.1552G= (p.Gly518=)
| |
| 8 | g.10612546C>G | CA4625135 | RP1L1 | c.1552G>C (p.Gly518Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612546C>T | CA370295293 | RP1L1 | c.1552G>A (p.Gly518Ser)
| gnomAD v4 |
| 8 | g.10612547T>A | CA370295295 | RP1L1 | c.1551A>T (p.Gln517His)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612547T>C | CA4625136 | RP1L1 | c.1551A>G (p.Gln517=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612547T>G | CA370295296 | RP1L1 | c.1551A>C (p.Gln517His)
| |
| 8 | g.10612547T= | CA1763378680 | RP1L1 | c.1551A= (p.Gln517=)
| |
| 8 | g.10612548T>A | CA370295297 | RP1L1 | c.1550A>T (p.Gln517Leu)
| gnomAD v4 |
| 8 | g.10612548T>C | CA370295298 | RP1L1 | c.1550A>G (p.Gln517Arg)
| gnomAD v4 |
| 8 | g.10612548T>G | CA370295299 | RP1L1 | c.1550A>C (p.Gln517Pro)
| gnomAD v4 COSMIC |
| 8 | g.10612549G>A | CA370295300 | RP1L1 | c.1549C>T (p.Gln517Ter)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.10612549G>C | CA4625137 | RP1L1 | c.1549C>G (p.Gln517Glu)
| dbSNP ExAC gnomAD v2 |
| 8 | g.10612549G= | CA1763378684 | RP1L1 | c.1549C= (p.Gln517=)
| |
| 8 | g.10612549G>T | CA370295301 | RP1L1 | c.1549C>A (p.Gln517Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612550C>A | CA370295302 | RP1L1 | c.1548G>T (p.Glu516Asp)
| dbSNP gnomAD v2 |
| 8 | g.10612550C= | CA1763378687 | RP1L1 | c.1548G= (p.Glu516=)
| |
| 8 | g.10612550C>G | CA370295303 | RP1L1 | c.1548G>C (p.Glu516Asp)
| |
| 8 | g.10612550C>T | CA459619898 | RP1L1 | c.1548G>A (p.Glu516=)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612551T>A | CA370295306 | RP1L1 | c.1547A>T (p.Glu516Val)
| gnomAD v4 |
| 8 | g.10612551T>C | CA370295305 | RP1L1 | c.1547A>G (p.Glu516Gly)
| |
| 8 | g.10612551T>G | CA370295304 | RP1L1 | c.1547A>C (p.Glu516Ala)
| |
| 8 | g.10612551T= | CA1763378689 | RP1L1 | c.1547A= (p.Glu516=)
| |
| 8 | g.10612552C>A | CA370295307 | RP1L1 | c.1546G>T (p.Glu516Ter)
| |
| 8 | g.10612552C= | CA1763378691 | RP1L1 | c.1546G= (p.Glu516=)
| |
| 8 | g.10612552C>G | CA4625138 | RP1L1 | c.1546G>C (p.Glu516Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612552C>T | CA370295308 | RP1L1 | c.1546G>A (p.Glu516Lys)
| |
| 8 | g.10612557_10612558insTGCCCAGCCCTGGGC | CA1763378690 | RP1L1 | c.1546_1547insGGCTGGGCAGCCCAG (p.Pro515_Glu516insGlyLeuGlySerPro)
| dbSNP |
| 8 | g.10612553T>A | CA459619907 | RP1L1 | c.1545A>T (p.Pro515=)
| |
| 8 | g.10612553T>C | CA459619908 | RP1L1 | c.1545A>G (p.Pro515=)
| |
| 8 | g.10612553T>G | CA459619910 | RP1L1 | c.1545A>C (p.Pro515=)
| dbSNP gnomAD v4 |
| 8 | g.10612553T= | CA1763378693 | RP1L1 | c.1545A= (p.Pro515=)
| |
| 8 | g.10612554G>A | CA370295309 | RP1L1 | c.1544C>T (p.Pro515Leu)
| gnomAD v4 |
| 8 | g.10612554G>C | CA370295310 | RP1L1 | c.1544C>G (p.Pro515Arg)
| |
| 8 | g.10612554G>T | CA370295311 | RP1L1 | c.1544C>A (p.Pro515Gln)
| gnomAD v4 |
| 8 | g.10612556del | CA2686113513 | RP1L1 | c.1544del (p.Pro515GlnfsTer7)
| gnomAD v4 |
| 8 | g.10612555G>A | CA370295312 | RP1L1 | c.1543C>T (p.Pro515Ser)
| |
| 8 | g.10612555G>C | CA4625140 | RP1L1 | c.1543C>G (p.Pro515Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612555G= | CA1763378695 | RP1L1 | c.1543C= (p.Pro515=)
| |
| 8 | g.10612555G>T | CA4625139 | RP1L1 | c.1543C>A (p.Pro515Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612556G>A | CA4625141 | RP1L1 | c.1542C>T (p.Gly514=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612556G>C | CA459619917 | RP1L1 | c.1542C>G (p.Gly514=)
| |
| 8 | g.10612556G= | CA1763378697 | RP1L1 | c.1542C= (p.Gly514=)
| |
| 8 | g.10612556G>T | CA459619918 | RP1L1 | c.1542C>A (p.Gly514=)
| |
| 8 | g.10612557C>A | CA370295313 | RP1L1 | c.1541G>T (p.Gly514Val)
| dbSNP |
| 8 | g.10612557C= | CA1763378698 | RP1L1 | c.1541G= (p.Gly514=)
| |
| 8 | g.10612557C>G | CA370295314 | RP1L1 | c.1541G>C (p.Gly514Ala)
| |
| 8 | g.10612557C>T | CA370295315 | RP1L1 | c.1541G>A (p.Gly514Asp)
| gnomAD v4 |
| 8 | g.10612557_10612558insTG | CA1110640973 | RP1L1 | c.1540_1541insCA (p.Gly514AlafsTer9)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612558C>A | CA370295317 | RP1L1 | c.1540G>T (p.Gly514Cys)
| |
| 8 | g.10612558C= | CA1763378700 | RP1L1 | c.1540G= (p.Gly514=)
| |
| 8 | g.10612558C>G | CA370295316 | RP1L1 | c.1540G>C (p.Gly514Arg)
| dbSNP |
| 8 | g.10612558C>T | CA4625142 | RP1L1 | c.1540G>A (p.Gly514Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612558_10612559insCCAGCCCTGGGCT | CA1110640994 | RP1L1 | c.1539_1540insAGCCCAGGGCTGG (p.Gly514SerfsTer19)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612559del | CA2686113534 | RP1L1 | c.1539del (p.Gly514AlafsTer8)
| gnomAD v4 |
| 8 | g.10612559G>A | CA171947663 | RP1L1 | c.1539C>T (p.Gly513=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612559G>C | CA459619921 | RP1L1 | c.1539C>G (p.Gly513=)
| gnomAD v4 |
| 8 | g.10612559G= | CA1763378707 | RP1L1 | c.1539C= (p.Gly513=)
| |
| 8 | g.10612559G>T | CA459619922 | RP1L1 | c.1539C>A (p.Gly513=)
| gnomAD v4 |
| 8 | g.10612560C>A | CA370295318 | RP1L1 | c.1538G>T (p.Gly513Val)
| |
| 8 | g.10612560C>G | CA370295319 | RP1L1 | c.1538G>C (p.Gly513Ala)
| |
| 8 | g.10612560C>T | CA370295320 | RP1L1 | c.1538G>A (p.Gly513Asp)
| gnomAD v4 |
| 8 | g.10612561C>A | CA370295321 | RP1L1 | c.1537G>T (p.Gly513Cys)
| gnomAD v4 |
| 8 | g.10612561C= | CA1763378709 | RP1L1 | c.1537G= (p.Gly513=)
| |
| 8 | g.10612561C>G | CA370295322 | RP1L1 | c.1537G>C (p.Gly513Arg)
| |
| 8 | g.10612561C>T | CA370295323 | RP1L1 | c.1537G>A (p.Gly513Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612562C>A | CA459619926 | RP1L1 | c.1536G>T (p.Leu512=)
| |
| 8 | g.10612562C= | CA1763378711 | RP1L1 | c.1536G= (p.Leu512=)
| |
| 8 | g.10612562C>G | CA459619927 | RP1L1 | c.1536G>C (p.Leu512=)
| |
| 8 | g.10612562C>T | CA459619928 | RP1L1 | c.1536G>A (p.Leu512=)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612563A>C | CA370295324 | RP1L1 | c.1535T>G (p.Leu512Arg)
| |
| 8 | g.10612563A>G | CA370295325 | RP1L1 | c.1535T>C (p.Leu512Pro)
| gnomAD v4 |
| 8 | g.10612563A>T | CA370295326 | RP1L1 | c.1535T>A (p.Leu512Gln)
| |
| 8 | g.10612564del | CA2686113542 | RP1L1 | c.1534del (p.Leu512TrpfsTer10)
| gnomAD v4 |
| 8 | g.10612564G>A | CA459619932 | RP1L1 | c.1534C>T (p.Leu512=)
| |
| 8 | g.10612564G>C | CA4625143 | RP1L1 | c.1534C>G (p.Leu512Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612564G= | CA1763378713 | RP1L1 | c.1534C= (p.Leu512=)
| |
| 8 | g.10612564G>T | CA370295327 | RP1L1 | c.1534C>A (p.Leu512Met)
| gnomAD v4 |
| 8 | g.10612565C>A | CA459619937 | RP1L1 | c.1533G>T (p.Gly511=)
| gnomAD v4 |
| 8 | g.10612565C>G | CA459619936 | RP1L1 | c.1533G>C (p.Gly511=)
| |
| 8 | g.10612565C>T | CA459619935 | RP1L1 | c.1533G>A (p.Gly511=)
| gnomAD v4 |
| 8 | g.10612566C>A | CA370295329 | RP1L1 | c.1532G>T (p.Gly511Val)
| |
| 8 | g.10612566C= | CA1763378715 | RP1L1 | c.1532G= (p.Gly511=)
| |
| 8 | g.10612566C>G | CA370295330 | RP1L1 | c.1532G>C (p.Gly511Ala)
| gnomAD v4 |
| 8 | g.10612566C>T | CA370295328 | RP1L1 | c.1532G>A (p.Gly511Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612567C>A | CA370295331 | RP1L1 | c.1531G>T (p.Gly511Trp)
| gnomAD v4 |
| 8 | g.10612567C>G | CA370295332 | RP1L1 | c.1531G>C (p.Gly511Arg)
| |
| 8 | g.10612567C>T | CA370295333 | RP1L1 | c.1531G>A (p.Gly511Arg)
| |
| 8 | g.10612569_10612571dup | CA1763378716 | RP1L1 | c.1529_1531dup (p.Ala510_Gly511insAla)
| dbSNP |
| 8 | g.10612568T>A | CA459619939 | RP1L1 | c.1530A>T (p.Ala510=)
| gnomAD v4 |
| 8 | g.10612568T>C | CA4625144 | RP1L1 | c.1530A>G (p.Ala510=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612568T>G | CA459619938 | RP1L1 | c.1530A>C (p.Ala510=)
| |
| 8 | g.10612568T= | CA1763378718 | RP1L1 | c.1530A= (p.Ala510=)
| |
