| 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=)
| |
| 8 | g.10612635T>A | CA370295461 | RP1L1 | c.1463A>T (p.Gln488Leu)
| gnomAD v4 |
| 8 | g.10612635T>C | CA370295462 | RP1L1 | c.1463A>G (p.Gln488Arg)
| |
| 8 | g.10612635T>G | CA370295460 | RP1L1 | c.1463A>C (p.Gln488Pro)
| |
| 8 | g.10612636G>A | CA370295463 | RP1L1 | c.1462C>T (p.Gln488Ter)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.10612636G>C | CA171947697 | RP1L1 | c.1462C>G (p.Gln488Glu)
| dbSNP |
| 8 | g.10612636G= | CA1763378802 | RP1L1 | c.1462C= (p.Gln488=)
| |
| 8 | g.10612636G>T | CA370295464 | RP1L1 | c.1462C>A (p.Gln488Lys)
| gnomAD v4 |
| 8 | g.10612637G>A | CA459620085 | RP1L1 | c.1461C>T (p.Ala487=)
| gnomAD v4 |
| 8 | g.10612637G>C | CA4625164 | RP1L1 | c.1461C>G (p.Ala487=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612637G= | CA1763378805 | RP1L1 | c.1461C= (p.Ala487=)
| |
| 8 | g.10612637G>T | CA459620087 | RP1L1 | c.1461C>A (p.Ala487=)
| gnomAD v4 |
| 8 | g.10612638G>A | CA4625165 | RP1L1 | c.1460C>T (p.Ala487Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612638G>C | CA370295465 | RP1L1 | c.1460C>G (p.Ala487Gly)
| |
| 8 | g.10612638G= | CA1763378807 | RP1L1 | c.1460C= (p.Ala487=)
| |
| 8 | g.10612638G>T | CA370295466 | RP1L1 | c.1460C>A (p.Ala487Asp)
| gnomAD v4 |
| 8 | g.10612639C>A | CA370295467 | RP1L1 | c.1459G>T (p.Ala487Ser)
| |
| 8 | g.10612639C= | CA1763378810 | RP1L1 | c.1459G= (p.Ala487=)
| |
| 8 | g.10612639C>G | CA370295468 | RP1L1 | c.1459G>C (p.Ala487Pro)
| |
| 8 | g.10612639C>T | CA370295469 | RP1L1 | c.1459G>A (p.Ala487Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612640A>C | CA459620089 | RP1L1 | c.1458T>G (p.Ser486=)
| |
| 8 | g.10612640A>G | CA459620091 | RP1L1 | c.1458T>C (p.Ser486=)
| |
| 8 | g.10612640A>T | CA459620092 | RP1L1 | c.1458T>A (p.Ser486=)
| |
| 8 | g.10612641G>A | CA370295471 | RP1L1 | c.1457C>T (p.Ser486Phe)
| |
| 8 | g.10612641G>C | CA4625166 | RP1L1 | c.1457C>G (p.Ser486Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.10612641G= | CA1763378812 | RP1L1 | c.1457C= (p.Ser486=)
| |
| 8 | g.10612641G>T | CA370295470 | RP1L1 | c.1457C>A (p.Ser486Tyr)
| gnomAD v4 |
| 8 | g.10612642A>C | CA370295472 | RP1L1 | c.1456T>G (p.Ser486Ala)
| |
| 8 | g.10612642A>G | CA370295473 | RP1L1 | c.1456T>C (p.Ser486Pro)
| |
| 8 | g.10612642A>T | CA370295474 | RP1L1 | c.1456T>A (p.Ser486Thr)
| |
| 8 | g.10612643G>A | CA459620097 | RP1L1 | c.1455C>T (p.Pro485=)
| dbSNP |
| 8 | g.10612643G>C | CA459620098 | RP1L1 | c.1455C>G (p.Pro485=)
| gnomAD v4 |
| 8 | g.10612643G>T | CA459620099 | RP1L1 | c.1455C>A (p.Pro485=)
| gnomAD v4 |
| 8 | g.10612644G>A | CA370295475 | RP1L1 | c.1454C>T (p.Pro485Leu)
| dbSNP |
| 8 | g.10612644G>C | CA370295476 | RP1L1 | c.1454C>G (p.Pro485Arg)
| |
| 8 | g.10612644G= | CA1763378814 | RP1L1 | c.1454C= (p.Pro485=)
| |
| 8 | g.10612644G>T | CA370295477 | RP1L1 | c.1454C>A (p.Pro485His)
| dbSNP gnomAD v2 |
| 8 | g.10612645G>A | CA370295480 | RP1L1 | c.1453C>T (p.Pro485Ser)
| gnomAD v4 |
| 8 | g.10612645G>C | CA370295478 | RP1L1 | c.1453C>G (p.Pro485Ala)
| |
| 8 | g.10612645G>T | CA370295479 | RP1L1 | c.1453C>A (p.Pro485Thr)
| gnomAD v4 |
| 8 | g.10612646G>A | CA459620102 | RP1L1 | c.1452C>T (p.Ser484=)
| gnomAD v4 |
| 8 | g.10612646G>C | CA370295481 | RP1L1 | c.1452C>G (p.Ser484Arg)
| |
| 8 | g.10612646G>T | CA370295482 | RP1L1 | c.1452C>A (p.Ser484Arg)
| gnomAD v4 |
| 8 | g.10612646_10612647delinsGC | CA1763378816 | RP1L1 | c.1451_1452delinsGC (p.Ser484=)
| |
| 8 | g.10612647del | CA4625167 | RP1L1 | c.1451del (p.Ser484ThrfsTer6)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612647C>A | CA370295483 | RP1L1 | c.1451G>T (p.Ser484Ile)
| gnomAD v4 |
| 8 | g.10612647C>G | CA370295484 | RP1L1 | c.1451G>C (p.Ser484Thr)
| |
| 8 | g.10612647C>T | CA370295485 | RP1L1 | c.1451G>A (p.Ser484Asn)
| COSMIC |
| 8 | g.10612648T>A | CA370295486 | RP1L1 | c.1450A>T (p.Ser484Cys)
| |
| 8 | g.10612648T>C | CA370295487 | RP1L1 | c.1450A>G (p.Ser484Gly)
| gnomAD v4 |
| 8 | g.10612648T>G | CA370295488 | RP1L1 | c.1450A>C (p.Ser484Arg)
| |
| 8 | g.10612649G>A | CA459620107 | RP1L1 | c.1449C>T (p.Ala483=)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612649G>C | CA459620109 | RP1L1 | c.1449C>G (p.Ala483=)
| gnomAD v4 |
| 8 | g.10612649G= | CA1763378819 | RP1L1 | c.1449C= (p.Ala483=)
| |
| 8 | g.10612649G>T | CA459620108 | RP1L1 | c.1449C>A (p.Ala483=)
| dbSNP gnomAD v4 |
| 8 | g.10612650G>A | CA4625168 | RP1L1 | c.1448C>T (p.Ala483Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612650G>C | CA370295489 | RP1L1 | c.1448C>G (p.Ala483Gly)
| |
| 8 | g.10612650G= | CA1763378821 | RP1L1 | c.1448C= (p.Ala483=)
| |
| 8 | g.10612650G>T | CA370295490 | RP1L1 | c.1448C>A (p.Ala483Asp)
| |
| 8 | g.10612651C>A | CA370295491 | RP1L1 | c.1447G>T (p.Ala483Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612651C= | CA1763378823 | RP1L1 | c.1447G= (p.Ala483=)
| |
| 8 | g.10612651C>G | CA370295492 | RP1L1 | c.1447G>C (p.Ala483Pro)
| |
| 8 | g.10612651C>T | CA4625169 | RP1L1 | c.1447G>A (p.Ala483Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.10612652A= | CA1763378825 | RP1L1 | c.1446T= (p.Ser482=)
| |
| 8 | g.10612652A>C | CA370295493 | RP1L1 | c.1446T>G (p.Ser482Arg)
| |
| 8 | g.10612652A>G | CA4625170 | RP1L1 | c.1446T>C (p.Ser482=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612652A>T | CA370295494 | RP1L1 | c.1446T>A (p.Ser482Arg)
| |
| 8 | g.10612653C>A | CA370295495 | RP1L1 | c.1445G>T (p.Ser482Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612653C= | CA1763378827 | RP1L1 | c.1445G= (p.Ser482=)
| |
| 8 | g.10612653C>G | CA370295496 | RP1L1 | c.1445G>C (p.Ser482Thr)
| gnomAD v4 |
| 8 | g.10612653C>T | CA370295497 | RP1L1 | c.1445G>A (p.Ser482Asn)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612654T>A | CA370295498 | RP1L1 | c.1444A>T (p.Ser482Cys)
| |
| 8 | g.10612654T>C | CA370295499 | RP1L1 | c.1444A>G (p.Ser482Gly)
| gnomAD v4 |
| 8 | g.10612654T>G | CA370295500 | RP1L1 | c.1444A>C (p.Ser482Arg)
| |
| 8 | g.10612655G>A | CA459620121 | RP1L1 | c.1443C>T (p.Asp481=)
| gnomAD v4 |
| 8 | g.10612655G>C | CA370295501 | RP1L1 | c.1443C>G (p.Asp481Glu)
| gnomAD v4 |
| 8 | g.10612655G>T | CA370295502 | RP1L1 | c.1443C>A (p.Asp481Glu)
| gnomAD v4 |
| 8 | g.10612656T>A | CA370295505 | RP1L1 | c.1442A>T (p.Asp481Val)
| |
| 8 | g.10612656T>C | CA370295504 | RP1L1 | c.1442A>G (p.Asp481Gly)
| dbSNP gnomAD v4 |
| 8 | g.10612656T>G | CA370295503 | RP1L1 | c.1442A>C (p.Asp481Ala)
| |
| 8 | g.10612656T= | CA1763378828 | RP1L1 | c.1442A= (p.Asp481=)
| |
| 8 | g.10612657C>A | CA370295506 | RP1L1 | c.1441G>T (p.Asp481Tyr)
| gnomAD v4 |
| 8 | g.10612657C= | CA1763378830 | RP1L1 | c.1441G= (p.Asp481=)
| |
| 8 | g.10612657C>G | CA370295507 | RP1L1 | c.1441G>C (p.Asp481His)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612657C>T | CA370295508 | RP1L1 | c.1441G>A (p.Asp481Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612658C>A | CA459620127 | RP1L1 | c.1440G>T (p.Val480=)
| gnomAD v4 |
| 8 | g.10612658C>G | CA459620128 | RP1L1 | c.1440G>C (p.Val480=)
| |
| 8 | g.10612658C>T | CA459620130 | RP1L1 | c.1440G>A (p.Val480=)
| gnomAD v4 |
| 8 | g.10612659A= | CA1763378832 | RP1L1 | c.1439T= (p.Val480=)
| |
| 8 | g.10612659A>C | CA370295509 | RP1L1 | c.1439T>G (p.Val480Gly)
| gnomAD v3 gnomAD v4 |
| 8 | g.10612659A>G | CA4625171 | RP1L1 | c.1439T>C (p.Val480Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612659A>T | CA370295510 | RP1L1 | c.1439T>A (p.Val480Glu)
| |
| 8 | g.10612660C>A | CA370295511 | RP1L1 | c.1438G>T (p.Val480Leu)
| dbSNP gnomAD v4 |
| 8 | g.10612660C= | CA1763378834 | RP1L1 | c.1438G= (p.Val480=)
| |
| 8 | g.10612660C>G | CA370295512 | RP1L1 | c.1438G>C (p.Val480Leu)
| |
| 8 | g.10612660C>T | CA4625172 | RP1L1 | c.1438G>A (p.Val480Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612663del | CA2779033988 | RP1L1 | c.1438del (p.Val480TrpfsTer10)
| |
| 8 | g.10612660_10612661insACAA | CA2779033989 | RP1L1 | c.1437_1438insTTGT (p.Val480LeufsTer14)
| |
| 8 | g.10612661C>A | CA459620134 | RP1L1 | c.1437G>T (p.Gly479=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612661C= | CA1763378835 | RP1L1 | c.1437G= (p.Gly479=)
| |
| 8 | g.10612661C>G | CA459620135 | RP1L1 | c.1437G>C (p.Gly479=)
| |
| 8 | g.10612661C>T | CA459620137 | RP1L1 | c.1437G>A (p.Gly479=)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612662C>A | CA370295513 | RP1L1 | c.1436G>T (p.Gly479Val)
| |
| 8 | g.10612662C= | CA1763378837 | RP1L1 | c.1436G= (p.Gly479=)
| |
| 8 | g.10612662C>G | CA370295514 | RP1L1 | c.1436G>C (p.Gly479Ala)
| |
| 8 | g.10612662C>T | CA10626775 | RP1L1 | c.1436G>A (p.Gly479Glu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612663C>A | CA370295516 | RP1L1 | c.1435G>T (p.Gly479Trp)
| gnomAD v4 |
| 8 | g.10612663C= | CA1763378839 | RP1L1 | c.1435G= (p.Gly479=)
| |
| 8 | g.10612663C>G | CA370295515 | RP1L1 | c.1435G>C (p.Gly479Arg)
| |
| 8 | g.10612663C>T | CA4625173 | RP1L1 | c.1435G>A (p.Gly479Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.10612664G>A | CA4625174 | RP1L1 | c.1434C>T (p.Asp478=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612664G>C | CA370295518 | RP1L1 | c.1434C>G (p.Asp478Glu)
| |
| 8 | g.10612664G= | CA1763378841 | RP1L1 | c.1434C= (p.Asp478=)
| |
| 8 | g.10612664G>T | CA370295517 | RP1L1 | c.1434C>A (p.Asp478Glu)
| gnomAD v4 |
| 8 | g.10612665T>A | CA370295519 | RP1L1 | c.1433A>T (p.Asp478Val)
| gnomAD v4 |
| 8 | g.10612665T>C | CA370295520 | RP1L1 | c.1433A>G (p.Asp478Gly)
| gnomAD v4 |
| 8 | g.10612665T>G | CA370295521 | RP1L1 | c.1433A>C (p.Asp478Ala)
| |
| 8 | g.10612666C>A | CA370295522 | RP1L1 | c.1432G>T (p.Asp478Tyr)
| |
| 8 | g.10612666C>G | CA370295523 | RP1L1 | c.1432G>C (p.Asp478His)
| |
| 8 | g.10612666C>T | CA370295524 | RP1L1 | c.1432G>A (p.Asp478Asn)
| COSMIC |
| 8 | g.10612667C>A | CA370295525 | RP1L1 | c.1431G>T (p.Glu477Asp)
| |
| 8 | g.10612667C= | CA1763378844 | RP1L1 | c.1431G= (p.Glu477=)
| |
| 8 | g.10612667C>G | CA370295526 | RP1L1 | c.1431G>C (p.Glu477Asp)
| |
| 8 | g.10612667C>T | CA4625175 | RP1L1 | c.1431G>A (p.Glu477=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.10612668T>A | CA370295527 | RP1L1 | c.1430A>T (p.Glu477Val)
| |
| 8 | g.10612668T>C | CA4625176 | RP1L1 | c.1430A>G (p.Glu477Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612668T>G | CA370295528 | RP1L1 | c.1430A>C (p.Glu477Ala)
| |
| 8 | g.10612668T= | CA1763378847 | RP1L1 | c.1430A= (p.Glu477=)
| |
| 8 | g.10612669C>A | CA370295531 | RP1L1 | c.1429G>T (p.Glu477Ter)
| |
| 8 | g.10612669C>G | CA370295529 | RP1L1 | c.1429G>C (p.Glu477Gln)
| |
| 8 | g.10612669C>T | CA370295530 | RP1L1 | c.1429G>A (p.Glu477Lys)
| gnomAD v4 |
| 8 | g.10612670C>A | CA459619653 | RP1L1 | c.1428G>T (p.Pro476=)
| |
| 8 | g.10612670C= | CA1763378849 | RP1L1 | c.1428G= (p.Pro476=)
| |
| 8 | g.10612670C>G | CA459619655 | RP1L1 | c.1428G>C (p.Pro476=)
| |
| 8 | g.10612670C>T | CA4625177 | RP1L1 | c.1428G>A (p.Pro476=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612671G>A | CA4625178 | RP1L1 | c.1427C>T (p.Pro476Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10612671G>C | CA370295532 | RP1L1 | c.1427C>G (p.Pro476Arg)
| |
| 8 | g.10612671G= | CA1763378851 | RP1L1 | c.1427C= (p.Pro476=)
| |
| 8 | g.10612671G>T | CA370295533 | RP1L1 | c.1427C>A (p.Pro476Gln)
| gnomAD v4 |
| 8 | g.10612674del | CA2686113712 | RP1L1 | c.1427del (p.Pro476ArgfsTer14)
| gnomAD v4 |
| 8 | g.10612672G>A | CA370295534 | RP1L1 | c.1426C>T (p.Pro476Ser)
| gnomAD v4 |
| 8 | g.10612672G>C | CA370295535 | RP1L1 | c.1426C>G (p.Pro476Ala)
| gnomAD v4 |
| 8 | g.10612672G>T | CA370295536 | RP1L1 | c.1426C>A (p.Pro476Thr)
| gnomAD v4 |
| 8 | g.10612673G>A | CA459619660 | RP1L1 | c.1425C>T (p.Thr475=)
| |
| 8 | g.10612673G>C | CA459619665 | RP1L1 | c.1425C>G (p.Thr475=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612673G= | CA1763378852 | RP1L1 | c.1425C= (p.Thr475=)
| |
| 8 | g.10612673G>T | CA459619663 | RP1L1 | c.1425C>A (p.Thr475=)
| dbSNP gnomAD v4 |
| 8 | g.10612674G>A | CA370295537 | RP1L1 | c.1424C>T (p.Thr475Ile)
| gnomAD v4 |
| 8 | g.10612674G>C | CA370295538 | RP1L1 | c.1424C>G (p.Thr475Ser)
| |
| 8 | g.10612674G>T | CA370295539 | RP1L1 | c.1424C>A (p.Thr475Asn)
| gnomAD v4 |
| 8 | g.10612675T>A | CA4625179 | RP1L1 | c.1423A>T (p.Thr475Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612675T>C | CA370295541 | RP1L1 | c.1423A>G (p.Thr475Ala)
| gnomAD v4 |
| 8 | g.10612675T>G | CA370295540 | RP1L1 | c.1423A>C (p.Thr475Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612675T= | CA1763378854 | RP1L1 | c.1423A= (p.Thr475=)
| |
| 8 | g.10612676C>A | CA370295542 | RP1L1 | c.1422G>T (p.Arg474Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612676C= | CA1763378855 | RP1L1 | c.1422G= (p.Arg474=)
| |
| 8 | g.10612676C>G | CA370295543 | RP1L1 | c.1422G>C (p.Arg474Ser)
| gnomAD v4 |
| 8 | g.10612676C>T | CA459619671 | RP1L1 | c.1422G>A (p.Arg474=)
| |
