| 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=)
| |
| 8 | g.10612569G>A | CA4625145 | RP1L1 | c.1529C>T (p.Ala510Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612569G>C | CA370295334 | RP1L1 | c.1529C>G (p.Ala510Gly)
| |
| 8 | g.10612569G= | CA1763378720 | RP1L1 | c.1529C= (p.Ala510=)
| |
| 8 | g.10612569G>T | CA370295335 | RP1L1 | c.1529C>A (p.Ala510Glu)
| gnomAD v4 |
| 8 | g.10612570C>A | CA370295336 | RP1L1 | c.1528G>T (p.Ala510Ser)
| |
| 8 | g.10612570C= | CA1763378722 | RP1L1 | c.1528G= (p.Ala510=)
| |
| 8 | g.10612570C>G | CA370295337 | RP1L1 | c.1528G>C (p.Ala510Pro)
| gnomAD v4 |
| 8 | g.10612570C>T | CA370295338 | RP1L1 | c.1528G>A (p.Ala510Thr)
| dbSNP gnomAD v4 |
| 8 | g.10612571T>A | CA459619944 | RP1L1 | c.1527A>T (p.Gly509=)
| |
| 8 | g.10612571T>C | CA459619946 | RP1L1 | c.1527A>G (p.Gly509=)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612571T>G | CA459619945 | RP1L1 | c.1527A>C (p.Gly509=)
| |
| 8 | g.10612571T= | CA1763378724 | RP1L1 | c.1527A= (p.Gly509=)
| |
| 8 | g.10612572C>A | CA370295339 | RP1L1 | c.1526G>T (p.Gly509Val)
| gnomAD v4 |
| 8 | g.10612572C>G | CA370295340 | RP1L1 | c.1526G>C (p.Gly509Ala)
| |
| 8 | g.10612572C>T | CA370295341 | RP1L1 | c.1526G>A (p.Gly509Glu)
| |
| 8 | g.10612573C>A | CA370295343 | RP1L1 | c.1525G>T (p.Gly509Ter)
| |
| 8 | g.10612573C= | CA1763378725 | RP1L1 | c.1525G= (p.Gly509=)
| |
| 8 | g.10612573C>G | CA370295342 | RP1L1 | c.1525G>C (p.Gly509Arg)
| |
| 8 | g.10612573C>T | CA171947668 | RP1L1 | c.1525G>A (p.Gly509Arg)
| dbSNP gnomAD v4 |
| 8 | g.10612574A= | CA1763378727 | RP1L1 | c.1524T= (p.Asp508=)
| |
| 8 | g.10612574A>C | CA370295344 | RP1L1 | c.1524T>G (p.Asp508Glu)
| |
| 8 | g.10612574A>G | CA459619953 | RP1L1 | c.1524T>C (p.Asp508=)
| dbSNP gnomAD v4 |
| 8 | g.10612574A>T | CA370295345 | RP1L1 | c.1524T>A (p.Asp508Glu)
| gnomAD v4 |
| 8 | g.10612575T>A | CA370295346 | RP1L1 | c.1523A>T (p.Asp508Val)
| gnomAD v4 |
| 8 | g.10612575T>C | CA370295347 | RP1L1 | c.1523A>G (p.Asp508Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612575T>G | CA370295348 | RP1L1 | c.1523A>C (p.Asp508Ala)
| |
| 8 | g.10612575T= | CA1763378729 | RP1L1 | c.1523A= (p.Asp508=)
| |
| 8 | g.10612576C>A | CA370295349 | RP1L1 | c.1522G>T (p.Asp508Tyr)
| gnomAD v4 |
| 8 | g.10612576C>G | CA370295350 | RP1L1 | c.1522G>C (p.Asp508His)
| gnomAD v4 |
| 8 | g.10612576C>T | CA370295351 | RP1L1 | c.1522G>A (p.Asp508Asn)
| gnomAD v4 |
| 8 | g.10612577T>A | CA459619959 | RP1L1 | c.1521A>T (p.Ile507=)
| |
| 8 | g.10612577T>C | CA370295352 | RP1L1 | c.1521A>G (p.Ile507Met)
| gnomAD v4 |
| 8 | g.10612577T>G | CA459619960 | RP1L1 | c.1521A>C (p.Ile507=)
| |
| 8 | g.10612578A>C | CA370295353 | RP1L1 | c.1520T>G (p.Ile507Arg)
| |
| 8 | g.10612578A>G | CA370295354 | RP1L1 | c.1520T>C (p.Ile507Thr)
| |
| 8 | g.10612578A>T | CA370295355 | RP1L1 | c.1520T>A (p.Ile507Lys)
| |
| 8 | g.10612579T>A | CA370295358 | RP1L1 | c.1519A>T (p.Ile507Leu)
| |
| 8 | g.10612579T>C | CA370295357 | RP1L1 | c.1519A>G (p.Ile507Val)
| dbSNP |
| 8 | g.10612579T>G | CA370295356 | RP1L1 | c.1519A>C (p.Ile507Leu)
| |
| 8 | g.10612579T= | CA1763378731 | RP1L1 | c.1519A= (p.Ile507=)
| |
| 8 | g.10612580G>A | CA459619965 | RP1L1 | c.1518C>T (p.Cys506=)
| dbSNP |
| 8 | g.10612580G>C | CA370295359 | RP1L1 | c.1518C>G (p.Cys506Trp)
| |
| 8 | g.10612580G= | CA1763378733 | RP1L1 | c.1518C= (p.Cys506=)
| |
| 8 | g.10612580G>T | CA370295360 | RP1L1 | c.1518C>A (p.Cys506Ter)
| gnomAD v4 |
| 8 | g.10612581C>A | CA370295361 | RP1L1 | c.1517G>T (p.Cys506Phe)
| gnomAD v4 |
| 8 | g.10612581C>G | CA370295363 | RP1L1 | c.1517G>C (p.Cys506Ser)
| |
| 8 | g.10612581C>T | CA370295362 | RP1L1 | c.1517G>A (p.Cys506Tyr)
| gnomAD v4 |
| 8 | g.10612582A= | CA1763378735 | RP1L1 | c.1516T= (p.Cys506=)
| |
| 8 | g.10612582A>C | CA370295364 | RP1L1 | c.1516T>G (p.Cys506Gly)
| |
| 8 | g.10612582A>G | CA370295365 | RP1L1 | c.1516T>C (p.Cys506Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612582A>T | CA370295366 | RP1L1 | c.1516T>A (p.Cys506Ser)
| gnomAD v4 |
| 8 | g.10612583T>A | CA459619967 | RP1L1 | c.1515A>T (p.Leu505=)
| |
| 8 | g.10612583T>C | CA459619968 | RP1L1 | c.1515A>G (p.Leu505=)
| |
| 8 | g.10612583T>G | CA459619970 | RP1L1 | c.1515A>C (p.Leu505=)
| |
| 8 | g.10612584A= | CA1763378736 | RP1L1 | c.1514T= (p.Leu505=)
| |
| 8 | g.10612584A>C | CA370295367 | RP1L1 | c.1514T>G (p.Leu505Arg)
| |
| 8 | g.10612584A>G | CA370295368 | RP1L1 | c.1514T>C (p.Leu505Pro)
| dbSNP gnomAD v4 |
| 8 | g.10612584A>T | CA370295369 | RP1L1 | c.1514T>A (p.Leu505Gln)
| |
| 8 | g.10612585G>A | CA459619971 | RP1L1 | c.1513C>T (p.Leu505=)
| |
| 8 | g.10612585G>C | CA370295370 | RP1L1 | c.1513C>G (p.Leu505Val)
| |
| 8 | g.10612585G= | CA1763378738 | RP1L1 | c.1513C= (p.Leu505=)
| |
| 8 | g.10612585G>T | CA4625146 | RP1L1 | c.1513C>A (p.Leu505Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612586G>A | CA459619977 | RP1L1 | c.1512C>T (p.Gly504=)
| gnomAD v4 |
| 8 | g.10612586G>C | CA459619975 | RP1L1 | c.1512C>G (p.Gly504=)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612586G= | CA1763378740 | RP1L1 | c.1512C= (p.Gly504=)
| |
| 8 | g.10612586G>T | CA459619973 | RP1L1 | c.1512C>A (p.Gly504=)
| gnomAD v4 |
| 8 | g.10612587C>A | CA370295371 | RP1L1 | c.1511G>T (p.Gly504Val)
| gnomAD v4 |
| 8 | g.10612587C= | CA1763378742 | RP1L1 | c.1511G= (p.Gly504=)
| |
| 8 | g.10612587C>G | CA370295372 | RP1L1 | c.1511G>C (p.Gly504Ala)
| |
| 8 | g.10612587C>T | CA370295373 | RP1L1 | c.1511G>A (p.Gly504Asp)
| dbSNP gnomAD v4 |
| 8 | g.10612588C>A | CA370295374 | RP1L1 | c.1510G>T (p.Gly504Cys)
| |
| 8 | g.10612588C= | CA1763378744 | RP1L1 | c.1510G= (p.Gly504=)
| |
| 8 | g.10612588C>G | CA370295375 | RP1L1 | c.1510G>C (p.Gly504Arg)
| gnomAD v4 |
| 8 | g.10612588C>T | CA4625147 | RP1L1 | c.1510G>A (p.Gly504Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612589G>A | CA4625148 | RP1L1 | c.1509C>T (p.Pro503=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612589G>C | CA459619982 | RP1L1 | c.1509C>G (p.Pro503=)
| |
| 8 | g.10612589G= | CA1763378745 | RP1L1 | c.1509C= (p.Pro503=)
| |
| 8 | g.10612589G>T | CA459619983 | RP1L1 | c.1509C>A (p.Pro503=)
| gnomAD v4 |
| 8 | g.10612592del | CA2686113579 | RP1L1 | c.1509del (p.Gly504AlafsTer4)
| gnomAD v4 |
| 8 | g.10612590G>A | CA370295376 | RP1L1 | c.1508C>T (p.Pro503Leu)
| |
| 8 | g.10612590G>C | CA370295377 | RP1L1 | c.1508C>G (p.Pro503Arg)
| gnomAD v4 |
| 8 | g.10612590G>T | CA370295378 | RP1L1 | c.1508C>A (p.Pro503His)
| gnomAD v4 |
| 8 | g.10612591G>A | CA4625149 | RP1L1 | c.1507C>T (p.Pro503Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612591G>C | CA370295379 | RP1L1 | c.1507C>G (p.Pro503Ala)
| dbSNP gnomAD v4 |
| 8 | g.10612591G= | CA1763378747 | RP1L1 | c.1507C= (p.Pro503=)
| |
| 8 | g.10612591G>T | CA370295380 | RP1L1 | c.1507C>A (p.Pro503Thr)
| |
| 8 | g.10612592G>A | CA459619989 | RP1L1 | c.1506C>T (p.Asp502=)
| gnomAD v4 |
| 8 | g.10612592G>C | CA370295381 | RP1L1 | c.1506C>G (p.Asp502Glu)
| gnomAD v4 |
| 8 | g.10612592G= | CA1763378748 | RP1L1 | c.1506C= (p.Asp502=)
| |
| 8 | g.10612592G>T | CA370295382 | RP1L1 | c.1506C>A (p.Asp502Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612593T>A | CA370295383 | RP1L1 | c.1505A>T (p.Asp502Val)
| dbSNP |
| 8 | g.10612593T>C | CA370295384 | RP1L1 | c.1505A>G (p.Asp502Gly)
| |
| 8 | g.10612593T>G | CA4625150 | RP1L1 | c.1505A>C (p.Asp502Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612593T= | CA1763378750 | RP1L1 | c.1505A= (p.Asp502=)
| |
| 8 | g.10612594C>A | CA370295385 | RP1L1 | c.1504G>T (p.Asp502Tyr)
| gnomAD v4 |
| 8 | g.10612594C>G | CA370295386 | RP1L1 | c.1504G>C (p.Asp502His)
| |
| 8 | g.10612594C>T | CA370295387 | RP1L1 | c.1504G>A (p.Asp502Asn)
| |
| 8 | g.10612595C>A | CA370295388 | RP1L1 | c.1503G>T (p.Glu501Asp)
| |
| 8 | g.10612595C= | CA1763378751 | RP1L1 | c.1503G= (p.Glu501=)
| |
| 8 | g.10612595C>G | CA370295389 | RP1L1 | c.1503G>C (p.Glu501Asp)
| gnomAD v4 |
| 8 | g.10612595C>T | CA459619997 | RP1L1 | c.1503G>A (p.Glu501=)
| dbSNP gnomAD v4 |
| 8 | g.10612596T>A | CA370295390 | RP1L1 | c.1502A>T (p.Glu501Val)
| |
| 8 | g.10612596T>C | CA370295391 | RP1L1 | c.1502A>G (p.Glu501Gly)
| gnomAD v3 gnomAD v4 |
| 8 | g.10612596T>G | CA370295392 | RP1L1 | c.1502A>C (p.Glu501Ala)
| gnomAD v4 |
| 8 | g.10612597C>A | CA370295393 | RP1L1 | c.1501G>T (p.Glu501Ter)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.10612597C= | CA1763378752 | RP1L1 | c.1501G= (p.Glu501=)
| |
| 8 | g.10612597C>G | CA370295394 | RP1L1 | c.1501G>C (p.Glu501Gln)
| gnomAD v4 |
| 8 | g.10612597C>T | CA370295395 | RP1L1 | c.1501G>A (p.Glu501Lys)
| gnomAD v4 |
| 8 | g.10612598A= | CA1763378753 | RP1L1 | c.1500T= (p.Gly500=)
| |
| 8 | g.10612598A>C | CA459620004 | RP1L1 | c.1500T>G (p.Gly500=)
| |
| 8 | g.10612598A>G | CA4625151 | RP1L1 | c.1500T>C (p.Gly500=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612598A>T | CA459620005 | RP1L1 | c.1500T>A (p.Gly500=)
| gnomAD v4 |
| 8 | g.10612599C>A | CA370295398 | RP1L1 | c.1499G>T (p.Gly500Val)
| |
| 8 | g.10612599C>G | CA370295396 | RP1L1 | c.1499G>C (p.Gly500Ala)
| |
| 8 | g.10612599C>T | CA370295397 | RP1L1 | c.1499G>A (p.Gly500Asp)
| gnomAD v4 |
| 8 | g.10612600C>A | CA370295399 | RP1L1 | c.1498G>T (p.Gly500Cys)
| |
| 8 | g.10612600C= | CA1763378755 | RP1L1 | c.1498G= (p.Gly500=)
| |
| 8 | g.10612600C>G | CA370295400 | RP1L1 | c.1498G>C (p.Gly500Arg)
| dbSNP gnomAD v4 |
| 8 | g.10612600C>T | CA370295401 | RP1L1 | c.1498G>A (p.Gly500Ser)
| gnomAD v4 |
| 8 | g.10612601C>A | CA459620012 | RP1L1 | c.1497G>T (p.Leu499=)
| |
| 8 | g.10612601C>G | CA459620013 | RP1L1 | c.1497G>C (p.Leu499=)
| |
| 8 | g.10612601C>T | CA459620014 | RP1L1 | c.1497G>A (p.Leu499=)
| |
| 8 | g.10612602A= | CA1763378757 | RP1L1 | c.1496T= (p.Leu499=)
| |
| 8 | g.10612602A>C | CA370295402 | RP1L1 | c.1496T>G (p.Leu499Arg)
| |
| 8 | g.10612602A>G | CA370295403 | RP1L1 | c.1496T>C (p.Leu499Pro)
| dbSNP gnomAD v4 |
| 8 | g.10612602A>T | CA370295404 | RP1L1 | c.1496T>A (p.Leu499Gln)
| |
| 8 | g.10612602_10612603delinsAG | CA1763378758 | RP1L1 | c.1495_1496delinsCT (p.Leu499=)
| |
| 8 | g.10612603G>A | CA459620018 | RP1L1 | c.1495C>T (p.Leu499=)
| gnomAD v4 |
| 8 | g.10612603G>C | CA370295405 | RP1L1 | c.1495C>G (p.Leu499Val)
| |
| 8 | g.10612603G>T | CA370295406 | RP1L1 | c.1495C>A (p.Leu499Met)
| |
| 8 | g.10612604del | CA845125134 | RP1L1 | c.1495del (p.Leu499TrpfsTer9)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612604G>A | CA459620020 | RP1L1 | c.1494C>T (p.Ser498=)
| gnomAD v4 |
| 8 | g.10612604G>C | CA4625152 | RP1L1 | c.1494C>G (p.Ser498Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612604G= | CA1763378760 | RP1L1 | c.1494C= (p.Ser498=)
| |
| 8 | g.10612604G>T | CA370295407 | RP1L1 | c.1494C>A (p.Ser498Arg)
| gnomAD v4 |
| 8 | g.10612605C>A | CA4625153 | RP1L1 | c.1493G>T (p.Ser498Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612605C= | CA1763378762 | RP1L1 | c.1493G= (p.Ser498=)
| |
| 8 | g.10612605C>G | CA370295408 | RP1L1 | c.1493G>C (p.Ser498Thr)
| |
| 8 | g.10612605C>T | CA171947678 | RP1L1 | c.1493G>A (p.Ser498Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612606T>A | CA370295410 | RP1L1 | c.1492A>T (p.Ser498Cys)
| |
| 8 | g.10612606T>C | CA370295411 | RP1L1 | c.1492A>G (p.Ser498Gly)
| gnomAD v4 |
| 8 | g.10612606T>G | CA370295409 | RP1L1 | c.1492A>C (p.Ser498Arg)
| dbSNP |
| 8 | g.10612606T= | CA1763378763 | RP1L1 | c.1492A= (p.Ser498=)
| |
| 8 | g.10612607C>A | CA459620023 | RP1L1 | c.1491G>T (p.Gly497=)
| |
| 8 | g.10612607C= | CA1763378765 | RP1L1 | c.1491G= (p.Gly497=)
| |
| 8 | g.10612607C>G | CA4625154 | RP1L1 | c.1491G>C (p.Gly497=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612607C>T | CA459620024 | RP1L1 | c.1491G>A (p.Gly497=)
| gnomAD v4 |
| 8 | g.10612608C>A | CA370295412 | RP1L1 | c.1490G>T (p.Gly497Val)
| |
| 8 | g.10612608C= | CA1763378766 | RP1L1 | c.1490G= (p.Gly497=)
| |
| 8 | g.10612608C>G | CA370295413 | RP1L1 | c.1490G>C (p.Gly497Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612608C>T | CA370295414 | RP1L1 | c.1490G>A (p.Gly497Glu)
| dbSNP gnomAD v4 |
| 8 | g.10612609C>A | CA370295415 | RP1L1 | c.1489G>T (p.Gly497Trp)
| gnomAD v4 |
| 8 | g.10612609C= | CA1763378768 | RP1L1 | c.1489G= (p.Gly497=)
| |
| 8 | g.10612609C>G | CA370295416 | RP1L1 | c.1489G>C (p.Gly497Arg)
| gnomAD v4 |
| 8 | g.10612609C>T | CA370295417 | RP1L1 | c.1489G>A (p.Gly497Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612610T>A | CA459620027 | RP1L1 | c.1488A>T (p.Gly496=)
| |
| 8 | g.10612610T>C | CA459620028 | RP1L1 | c.1488A>G (p.Gly496=)
| gnomAD v4 |
| 8 | g.10612610T>G | CA459620030 | RP1L1 | c.1488A>C (p.Gly496=)
| |
| 8 | g.10612611C>A | CA370295418 | RP1L1 | c.1487G>T (p.Gly496Val)
| gnomAD v4 |
| 8 | g.10612611C= | CA1763378770 | RP1L1 | c.1487G= (p.Gly496=)
| |
| 8 | g.10612611C>G | CA370295419 | RP1L1 | c.1487G>C (p.Gly496Ala)
| dbSNP gnomAD v4 |
| 8 | g.10612611C>T | CA370295420 | RP1L1 | c.1487G>A (p.Gly496Glu)
| gnomAD v4 |
| 8 | g.10612612C>A | CA370295421 | RP1L1 | c.1486G>T (p.Gly496Ter)
| gnomAD v4 |
| 8 | g.10612612C>G | CA370295422 | RP1L1 | c.1486G>C (p.Gly496Arg)
| |
| 8 | g.10612612C>T | CA370295423 | RP1L1 | c.1486G>A (p.Gly496Arg)
| gnomAD v4 |
| 8 | g.10612613A>C | CA459620034 | RP1L1 | c.1485T>G (p.Ala495=)
| |
| 8 | g.10612613A>G | CA459620036 | RP1L1 | c.1485T>C (p.Ala495=)
| |
| 8 | g.10612613A>T | CA459620037 | RP1L1 | c.1485T>A (p.Ala495=)
| |
| 8 | g.10612614G>A | CA370295425 | RP1L1 | c.1484C>T (p.Ala495Val)
| dbSNP gnomAD v4 |
| 8 | g.10612614G>C | CA370295426 | RP1L1 | c.1484C>G (p.Ala495Gly)
| ClinVar |
| 8 | g.10612614G= | CA1763378772 | RP1L1 | c.1484C= (p.Ala495=)
| |
| 8 | g.10612614G>T | CA370295424 | RP1L1 | c.1484C>A (p.Ala495Asp)
| gnomAD v4 |
| 8 | g.10612615C>A | CA370295427 | RP1L1 | c.1483G>T (p.Ala495Ser)
| gnomAD v4 |
| 8 | g.10612615C= | CA1763378774 | RP1L1 | c.1483G= (p.Ala495=)
| |
| 8 | g.10612615C>G | CA370295428 | RP1L1 | c.1483G>C (p.Ala495Pro)
| dbSNP |
| 8 | g.10612615C>T | CA370295429 | RP1L1 | c.1483G>A (p.Ala495Thr)
| |
| 8 | g.10612616T>A | CA370295430 | RP1L1 | c.1482A>T (p.Lys494Asn)
| |
| 8 | g.10612616T>C | CA459620042 | RP1L1 | c.1482A>G (p.Lys494=)
| |
| 8 | g.10612616T>G | CA370295431 | RP1L1 | c.1482A>C (p.Lys494Asn)
| |
| 8 | g.10612617T>A | CA370295434 | RP1L1 | c.1481A>T (p.Lys494Ile)
| |
| 8 | g.10612617T>C | CA370295432 | RP1L1 | c.1481A>G (p.Lys494Arg)
| |
| 8 | g.10612617T>G | CA370295433 | RP1L1 | c.1481A>C (p.Lys494Thr)
| |
| 8 | g.10612618T>A | CA370295435 | RP1L1 | c.1480A>T (p.Lys494Ter)
| |
| 8 | g.10612618T>C | CA370295436 | RP1L1 | c.1480A>G (p.Lys494Glu)
| |
| 8 | g.10612618T>G | CA370295437 | RP1L1 | c.1480A>C (p.Lys494Gln)
| |
| 8 | g.10612619C>A | CA459620049 | RP1L1 | c.1479G>T (p.Arg493=)
| |
| 8 | g.10612619C>G | CA459620050 | RP1L1 | c.1479G>C (p.Arg493=)
| |
| 8 | g.10612619C>T | CA459620051 | RP1L1 | c.1479G>A (p.Arg493=)
| |
| 8 | g.10612620C>A | CA370295438 | RP1L1 | c.1478G>T (p.Arg493Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612620C= | CA1763378777 | RP1L1 | c.1478G= (p.Arg493=)
| |
| 8 | g.10612620C>G | CA370295439 | RP1L1 | c.1478G>C (p.Arg493Pro)
| |
| 8 | g.10612620C>T | CA4625155 | RP1L1 | c.1478G>A (p.Arg493Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612621G>A | CA4625156 | RP1L1 | c.1477C>T (p.Arg493Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10612621G>C | CA171947682 | RP1L1 | c.1477C>G (p.Arg493Gly)
| dbSNP gnomAD v4 |
| 8 | g.10612621G= | CA1763378780 | RP1L1 | c.1477C= (p.Arg493=)
| |
| 8 | g.10612621G>T | CA459620054 | RP1L1 | c.1477C>A (p.Arg493=)
| gnomAD v4 |
| 8 | g.10612622C>A | CA370295440 | RP1L1 | c.1476G>T (p.Glu492Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612622C= | CA1763378783 | RP1L1 | c.1476G= (p.Glu492=)
| |
| 8 | g.10612622C>G | CA370295441 | RP1L1 | c.1476G>C (p.Glu492Asp)
| |
| 8 | g.10612622C>T | CA459620055 | RP1L1 | c.1476G>A (p.Glu492=)
| gnomAD v4 |
| 8 | g.10612623T>A | CA370295442 | RP1L1 | c.1475A>T (p.Glu492Val)
| gnomAD v4 |
| 8 | g.10612623T>C | CA370295443 | RP1L1 | c.1475A>G (p.Glu492Gly)
| gnomAD v4 |
| 8 | g.10612623T>G | CA370295444 | RP1L1 | c.1475A>C (p.Glu492Ala)
| |
| 8 | g.10612624C>A | CA370295446 | RP1L1 | c.1474G>T (p.Glu492Ter)
| |
| 8 | g.10612624C= | CA1763378785 | RP1L1 | c.1474G= (p.Glu492=)
| |
| 8 | g.10612624C>G | CA370295445 | RP1L1 | c.1474G>C (p.Glu492Gln)
| gnomAD v4 |
| 8 | g.10612624C>T | CA4625157 | RP1L1 | c.1474G>A (p.Glu492Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612625A= | CA1763378787 | RP1L1 | c.1473T= (p.Ala491=)
| |
| 8 | g.10612625A>C | CA459620059 | RP1L1 | c.1473T>G (p.Ala491=)
| |
| 8 | g.10612625A>G | CA171947687 | RP1L1 | c.1473T>C (p.Ala491=)
| dbSNP gnomAD v4 |
| 8 | g.10612625A>T | CA459620061 | RP1L1 | c.1473T>A (p.Ala491=)
| |
| 8 | g.10612626G>A | CA370295447 | RP1L1 | c.1472C>T (p.Ala491Val)
| |
| 8 | g.10612626G>C | CA171947689 | RP1L1 | c.1472C>G (p.Ala491Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612626G= | CA1763378789 | RP1L1 | c.1472C= (p.Ala491=)
| |
| 8 | g.10612626G>T | CA171947691 | RP1L1 | c.1472C>A (p.Ala491Asp)
| dbSNP gnomAD v4 |
| 8 | g.10612627C>A | CA4625158 | RP1L1 | c.1471G>T (p.Ala491Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612627C= | CA1763378791 | RP1L1 | c.1471G= (p.Ala491=)
| |
| 8 | g.10612627C>G | CA370295448 | RP1L1 | c.1471G>C (p.Ala491Pro)
| gnomAD v4 |
| 8 | g.10612627C>T | CA4625159 | RP1L1 | c.1471G>A (p.Ala491Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612628C>A | CA459620068 | RP1L1 | c.1470G>T (p.Gly490=)
| gnomAD v4 |
| 8 | g.10612628C>G | CA459620069 | RP1L1 | c.1470G>C (p.Gly490=)
| |
| 8 | g.10612628C>T | CA459620067 | RP1L1 | c.1470G>A (p.Gly490=)
| |
| 8 | g.10612629C>A | CA370295449 | RP1L1 | c.1469G>T (p.Gly490Val)
| gnomAD v4 COSMIC |
| 8 | g.10612629C= | CA1763378793 | RP1L1 | c.1469G= (p.Gly490=)
| |
| 8 | g.10612629C>G | CA370295450 | RP1L1 | c.1469G>C (p.Gly490Ala)
| gnomAD v4 |
| 8 | g.10612629C>T | CA4625160 | RP1L1 | c.1469G>A (p.Gly490Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612630C>A | CA370295451 | RP1L1 | c.1468G>T (p.Gly490Trp)
| COSMIC |
| 8 | g.10612630C= | CA1763378795 | RP1L1 | c.1468G= (p.Gly490=)
| |
| 8 | g.10612630C>G | CA4625162 | RP1L1 | c.1468G>C (p.Gly490Arg)
| dbSNP ExAC gnomAD v2 |
| 8 | g.10612630C>T | CA4625161 | RP1L1 | c.1468G>A (p.Gly490Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612631T>A | CA459620077 | RP1L1 | c.1467A>T (p.Ile489=)
| |
| 8 | g.10612631T>C | CA370295452 | RP1L1 | c.1467A>G (p.Ile489Met)
| |
| 8 | g.10612631T>G | CA459620075 | RP1L1 | c.1467A>C (p.Ile489=)
| |
| 8 | g.10612632A= | CA1763378797 | RP1L1 | c.1466T= (p.Ile489=)
| |
| 8 | g.10612632A>C | CA370295453 | RP1L1 | c.1466T>G (p.Ile489Arg)
| gnomAD v4 |
| 8 | g.10612632A>G | CA4625163 | RP1L1 | c.1466T>C (p.Ile489Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612632A>T | CA370295454 | RP1L1 | c.1466T>A (p.Ile489Lys)
| |
| 8 | g.10612633T>A | CA370295455 | RP1L1 | c.1465A>T (p.Ile489Leu)
| |
| 8 | g.10612633T>C | CA370295456 | RP1L1 | c.1465A>G (p.Ile489Val)
| dbSNP gnomAD v4 |
| 8 | g.10612633T>G | CA370295457 | RP1L1 | c.1465A>C (p.Ile489Leu)
| |
| 8 | g.10612633T= | CA1763378799 | RP1L1 | c.1465A= (p.Ile489=)
| |
| 8 | g.10612634C>A | CA370295458 | RP1L1 | c.1464G>T (p.Gln488His)
| gnomAD v4 |
| 8 | g.10612634C= | CA1763378800 | RP1L1 | c.1464G= (p.Gln488=)
| |
| 8 | g.10612634C>G | CA370295459 | RP1L1 | c.1464G>C (p.Gln488His)
| dbSNP |
| 8 | g.10612634C>T | CA459620081 | RP1L1 | c.1464G>A (p.Gln488=)
| |
