Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.54625148_54625538delinsTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTTCAAGAGAAAATGATTGGACAGTTTTCATATAGTGAAGAAAGGGAAAGTGGGGAAAACAAGTCTGAGTATCACATGTTTACACATTCTTGCAGTAAAATGTCATCAGTATCTAACAAACCAGTACTTGTTCAGATCAATAACAATGATCAAATGGAGGAGTCATCATTAGAAAGAAAAAAGGAAAACAGTCTGCTTAAGTCAAGTGCAATAAGTGCTGGTGTTATAGAAATT | CA1785187759 | RP1 | c.1266_1656delinsTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTTCAAGAGAAAATGATTGGACAGTTTTCATATAGTGAAGAAAGGGAAAGTGGGGAAAACAAGTCTGAGTATCACATGTTTACACATTCTTGCAGTAAAATGTCATCAGTATCTAACAAACCAGTACTTGTTCAGATCAATAACAATGATCAAATGGAGGAGTCATCATTAGAAAGAAAAAAGGAAAACAGTCTGCTTAAGTCAAGTGCAATAAGTGCTGGTGTTATAGAAATT (p.Ser422=) c.787+2860_787+3250delinsTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTTCAAGAGAAAATGATTGGACAGTTTTCATATAGTGAAGAAAGGGAAAGTGGGGAAAACAAGTCTGAGTATCACATGTTTACACATTCTTGCAGTAAAATGTCATCAGTATCTAACAAACCAGTACTTGTTCAGATCAATAACAATGATCAAATGGAGGAGTCATCATTAGAAAGAAAAAAGGAAAACAGTCTGCTTAAGTCAAGTGCAATAAGTGCTGGTGTTATAGAAATT (n.787+2860_787+3250delinsTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTTCAAGAGAAAATGATTGGACAGTTTTCATATAGTGAAGAAAGGGAAAGTGGGGAAAACAAGTCTGAGTATCACATGTTTACACATTCTTGCAGTAAAATGTCATCAGTATCTAACAAACCAGTACTTGTTCAGATCAATAACAATGATCAAATGGAGGAGTCATCATTAGAAAGAAAAAAGGAAAACAGTCTGCTTAAGTCAAGTGCAATAAGTGCTGGTGTTATAGAAATT) c.1287_1677delinsTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGACCAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAGAAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTTCAAGAGAAAATGATTGGACAGTTTTCATATAGTGAAGAAAGGGAAAGTGGGGAAAACAAGTCTGAGTATCACATGTTTACACATTCTTGCAGTAAAATGTCATCAGTATCTAACAAACCAGTACTTGTTCAGATCAATAACAATGATCAAATGGAGGAGTCATCATTAGAAAGAAAAAAGGAAAACAGTCTGCTTAAGTCAAGTGCAATAAGTGCTGGTGTTATAGAAATT (p.Ser429=) | |
8 | g.54625149_54625538delinsA | CA658821501 | RP1 | c.1267_1656delinsA (p.Ala423AsnfsTer11) c.787+2861_787+3250delinsA (n.787+2861_787+3250delinsA) c.1288_1677delinsA (p.Ala430AsnfsTer11) | ClinVar dbSNP |
8 | g.54625503A>C | CA370991013 | RP1 | c.1621A>C (p.Lys541Gln) c.787+3215A>C (n.787+3215A>C) c.1642A>C (p.Lys548Gln) | |
8 | g.54625503A>G | CA370991010 | RP1 | c.1621A>G (p.Lys541Glu) c.787+3215A>G (n.787+3215A>G) c.1642A>G (p.Lys548Glu) | |
8 | g.54625503A>T | CA370991012 | RP1 | c.1621A>T (p.Lys541Ter) c.787+3215A>T (n.787+3215A>T) c.1642A>T (p.Lys548Ter) | |
8 | g.54625507_54625511del | CA2695209258 | RP1 | c.1625_1629del (p.Ser542CysfsTer20) c.787+3219_787+3223del (n.787+3219_787+3223del) c.1646_1650del (p.Ser549CysfsTer20) | |
8 | g.54625504A>C | CA370991015 | RP1 | c.1622A>C (p.Lys541Thr) c.787+3216A>C (n.787+3216A>C) c.1643A>C (p.Lys548Thr) | |
8 | g.54625504A>G | CA370991016 | RP1 | c.1622A>G (p.Lys541Arg) c.787+3216A>G (n.787+3216A>G) c.1643A>G (p.Lys548Arg) | |
8 | g.54625504A>T | CA370991018 | RP1 | c.1622A>T (p.Lys541Met) c.787+3216A>T (n.787+3216A>T) c.1643A>T (p.Lys548Met) | |
8 | g.54625505G>A | CA461098277 | RP1 | c.1623G>A (p.Lys541=) c.787+3217G>A (n.787+3217G>A) c.1644G>A (p.Lys548=) | |
8 | g.54625505G>C | CA370991020 | RP1 | c.1623G>C (p.Lys541Asn) c.787+3217G>C (n.787+3217G>C) c.1644G>C (p.Lys548Asn) | |
8 | g.54625505G>T | CA370991021 | RP1 | c.1623G>T (p.Lys541Asn) c.787+3217G>T (n.787+3217G>T) c.1644G>T (p.Lys548Asn) | |
8 | g.54625506T>A | CA370991026 | RP1 | c.1624T>A (p.Ser542Thr) c.787+3218T>A (n.787+3218T>A) c.1645T>A (p.Ser549Thr) | |
8 | g.54625506T>C | CA370991023 | RP1 | c.1624T>C (p.Ser542Pro) c.787+3218T>C (n.787+3218T>C) c.1645T>C (p.Ser549Pro) | |
8 | g.54625506T>G | CA370991025 | RP1 | c.1624T>G (p.Ser542Ala) c.787+3218T>G (n.787+3218T>G) c.1645T>G (p.Ser549Ala) | |
8 | g.54625507C>A | CA370991028 | RP1 | c.1625C>A (p.Ser542Ter) c.787+3219C>A (n.787+3219C>A) c.1646C>A (p.Ser549Ter) | gnomAD v4 |
8 | g.54625507C= | CA1785187914 | RP1 | c.1625C= (p.Ser542=) c.787+3219C= (n.787+3219C=) c.1646C= (p.Ser549=) | |
8 | g.54625507C>G | CA4751409 | RP1 | c.1625C>G (p.Ser542Ter) c.787+3219C>G (n.787+3219C>G) c.1646C>G (p.Ser549Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625507C>T | CA370991030 | RP1 | c.1625C>T (p.Ser542Leu) c.787+3219C>T (n.787+3219C>T) c.1646C>T (p.Ser549Leu) | ClinVar dbSNP |
8 | g.54625508A>C | CA461098286 | RP1 | c.1626A>C (p.Ser542=) c.787+3220A>C (n.787+3220A>C) c.1647A>C (p.Ser549=) | |
8 | g.54625508A>G | CA461098287 | RP1 | c.1626A>G (p.Ser542=) c.787+3220A>G (n.787+3220A>G) c.1647A>G (p.Ser549=) | |
8 | g.54625508A>T | CA461098288 | RP1 | c.1626A>T (p.Ser542=) c.787+3220A>T (n.787+3220A>T) c.1647A>T (p.Ser549=) | |
8 | g.54625509A= | CA1785187915 | RP1 | c.1627A= (p.Ser543=) c.787+3221A= (n.787+3221A=) c.1648A= (p.Ser550=) | |
8 | g.54625509A>C | CA370991032 | RP1 | c.1627A>C (p.Ser543Arg) c.787+3221A>C (n.787+3221A>C) c.1648A>C (p.Ser550Arg) | COSMIC |
8 | g.54625509A>G | CA370991034 | RP1 | c.1627A>G (p.Ser543Gly) c.787+3221A>G (n.787+3221A>G) c.1648A>G (p.Ser550Gly) | dbSNP gnomAD v4 |
8 | g.54625509A>T | CA370991035 | RP1 | c.1627A>T (p.Ser543Cys) c.787+3221A>T (n.787+3221A>T) c.1648A>T (p.Ser550Cys) | |
8 | g.54625510G>A | CA370991037 | RP1 | c.1628G>A (p.Ser543Asn) c.787+3222G>A (n.787+3222G>A) c.1649G>A (p.Ser550Asn) | |
8 | g.54625510G>C | CA370991038 | RP1 | c.1628G>C (p.Ser543Thr) c.787+3222G>C (n.787+3222G>C) c.1649G>C (p.Ser550Thr) | |
8 | g.54625510G>T | CA370991039 | RP1 | c.1628G>T (p.Ser543Ile) c.787+3222G>T (n.787+3222G>T) c.1649G>T (p.Ser550Ile) | |
8 | g.54625511T>A | CA370991041 | RP1 | c.1629T>A (p.Ser543Arg) c.787+3223T>A (n.787+3223T>A) c.1650T>A (p.Ser550Arg) | |
8 | g.54625511T>C | CA4751410 | RP1 | c.1629T>C (p.Ser543=) c.787+3223T>C (n.787+3223T>C) c.1650T>C (p.Ser550=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625511T>G | CA370991044 | RP1 | c.1629T>G (p.Ser543Arg) c.787+3223T>G (n.787+3223T>G) c.1650T>G (p.Ser550Arg) | |
8 | g.54625511T= | CA1785187916 | RP1 | c.1629T= (p.Ser543=) c.787+3223T= (n.787+3223T=) c.1650T= (p.Ser550=) | |
8 | g.54625512G>A | CA370991045 | RP1 | c.1630G>A (p.Ala544Thr) c.787+3224G>A (n.787+3224G>A) c.1651G>A (p.Ala551Thr) | |
8 | g.54625512G>C | CA370991048 | RP1 | c.1630G>C (p.Ala544Pro) c.787+3224G>C (n.787+3224G>C) c.1651G>C (p.Ala551Pro) | |
8 | g.54625512G>T | CA370991046 | RP1 | c.1630G>T (p.Ala544Ser) c.787+3224G>T (n.787+3224G>T) c.1651G>T (p.Ala551Ser) | gnomAD v4 |
8 | g.54625513C>A | CA370991050 | RP1 | c.1631C>A (p.Ala544Glu) c.787+3225C>A (n.787+3225C>A) c.1652C>A (p.Ala551Glu) | |
8 | g.54625513C>G | CA370991053 | RP1 | c.1631C>G (p.Ala544Gly) c.787+3225C>G (n.787+3225C>G) c.1652C>G (p.Ala551Gly) | |
8 | g.54625513C>T | CA370991051 | RP1 | c.1631C>T (p.Ala544Val) c.787+3225C>T (n.787+3225C>T) c.1652C>T (p.Ala551Val) | |
8 | g.54625514A= | CA1785187917 | RP1 | c.1632A= (p.Ala544=) c.787+3226A= (n.787+3226A=) c.1653A= (p.Ala551=) | |
8 | g.54625514A>C | CA461098294 | RP1 | c.1632A>C (p.Ala544=) c.787+3226A>C (n.787+3226A>C) c.1653A>C (p.Ala551=) | gnomAD v4 |
8 | g.54625514A>G | CA4751411 | RP1 | c.1632A>G (p.Ala544=) c.787+3226A>G (n.787+3226A>G) c.1653A>G (p.Ala551=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625514A>T | CA461098295 | RP1 | c.1632A>T (p.Ala544=) c.787+3226A>T (n.787+3226A>T) c.1653A>T (p.Ala551=) | |
8 | g.54625515A= | CA1785187918 | RP1 | c.1633A= (p.Ile545=) c.787+3227A= (n.787+3227A=) c.1654A= (p.Ile552=) | |
8 | g.54625515A>C | CA370991054 | RP1 | c.1633A>C (p.Ile545Leu) c.787+3227A>C (n.787+3227A>C) c.1654A>C (p.Ile552Leu) | |
8 | g.54625515A>G | CA4751412 | RP1 | c.1633A>G (p.Ile545Val) c.787+3227A>G (n.787+3227A>G) c.1654A>G (p.Ile552Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625515A>T | CA177236819 | RP1 | c.1633A>T (p.Ile545Leu) c.787+3227A>T (n.787+3227A>T) c.1654A>T (p.Ile552Leu) | dbSNP gnomAD v4 |
8 | g.54625516T>A | CA370991057 | RP1 | c.1634T>A (p.Ile545Lys) c.787+3228T>A (n.787+3228T>A) c.1655T>A (p.Ile552Lys) | |
8 | g.54625516T>C | CA370991058 | RP1 | c.1634T>C (p.Ile545Thr) c.787+3228T>C (n.787+3228T>C) c.1655T>C (p.Ile552Thr) | |
8 | g.54625516T>G | CA370991059 | RP1 | c.1634T>G (p.Ile545Arg) c.787+3228T>G (n.787+3228T>G) c.1655T>G (p.Ile552Arg) | |
8 | g.54625517A>C | CA461098300 | RP1 | c.1635A>C (p.Ile545=) c.787+3229A>C (n.787+3229A>C) c.1656A>C (p.Ile552=) | |
8 | g.54625517A>G | CA370991060 | RP1 | c.1635A>G (p.Ile545Met) c.787+3229A>G (n.787+3229A>G) c.1656A>G (p.Ile552Met) | |
8 | g.54625517A>T | CA461098301 | RP1 | c.1635A>T (p.Ile545=) c.787+3229A>T (n.787+3229A>T) c.1656A>T (p.Ile552=) | |
8 | g.54625518A>C | CA370991061 | RP1 | c.1636A>C (p.Ser546Arg) c.787+3230A>C (n.787+3230A>C) c.1657A>C (p.Ser553Arg) | |
8 | g.54625518A>G | CA370991062 | RP1 | c.1636A>G (p.Ser546Gly) c.787+3230A>G (n.787+3230A>G) c.1657A>G (p.Ser553Gly) | |
8 | g.54625518A>T | CA370991063 | RP1 | c.1636A>T (p.Ser546Cys) c.787+3230A>T (n.787+3230A>T) c.1657A>T (p.Ser553Cys) | |
8 | g.54625519G>A | CA370991068 | RP1 | c.1637G>A (p.Ser546Asn) c.787+3231G>A (n.787+3231G>A) c.1658G>A (p.Ser553Asn) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.54625519G>C | CA370991067 | RP1 | c.1637G>C (p.Ser546Thr) c.787+3231G>C (n.787+3231G>C) c.1658G>C (p.Ser553Thr) | |
8 | g.54625519G= | CA1785187919 | RP1 | c.1637G= (p.Ser546=) c.787+3231G= (n.787+3231G=) c.1658G= (p.Ser553=) | |
8 | g.54625519G>T | CA370991065 | RP1 | c.1637G>T (p.Ser546Ile) c.787+3231G>T (n.787+3231G>T) c.1658G>T (p.Ser553Ile) | |
8 | g.54625520T>A | CA370991070 | RP1 | c.1638T>A (p.Ser546Arg) c.787+3232T>A (n.787+3232T>A) c.1659T>A (p.Ser553Arg) | |
8 | g.54625520T>C | CA461098306 | RP1 | c.1638T>C (p.Ser546=) c.787+3232T>C (n.787+3232T>C) c.1659T>C (p.Ser553=) | |
8 | g.54625520T>G | CA370991072 | RP1 | c.1638T>G (p.Ser546Arg) c.787+3232T>G (n.787+3232T>G) c.1659T>G (p.Ser553Arg) | |
8 | g.54625521G>A | CA370991074 | RP1 | c.1639G>A (p.Ala547Thr) c.787+3233G>A (n.787+3233G>A) c.1660G>A (p.Ala554Thr) | gnomAD v4 |
8 | g.54625521G>C | CA370991075 | RP1 | c.1639G>C (p.Ala547Pro) c.787+3233G>C (n.787+3233G>C) c.1660G>C (p.Ala554Pro) | |
8 | g.54625521G= | CA1785187920 | RP1 | c.1639G= (p.Ala547=) c.787+3233G= (n.787+3233G=) c.1660G= (p.Ala554=) | |
8 | g.54625521G>T | CA4751413 | RP1 | c.1639G>T (p.Ala547Ser) c.787+3233G>T (n.787+3233G>T) c.1660G>T (p.Ala554Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625522C>A | CA370991077 | RP1 | c.1640C>A (p.Ala547Asp) c.787+3234C>A (n.787+3234C>A) c.1661C>A (p.Ala554Asp) | |
8 | g.54625522C>G | CA370991079 | RP1 | c.1640C>G (p.Ala547Gly) c.787+3234C>G (n.787+3234C>G) c.1661C>G (p.Ala554Gly) | |
8 | g.54625522C>T | CA370991080 | RP1 | c.1640C>T (p.Ala547Val) c.787+3234C>T (n.787+3234C>T) c.1661C>T (p.Ala554Val) | |
8 | g.54625523T>A | CA461098307 | RP1 | c.1641T>A (p.Ala547=) c.787+3235T>A (n.787+3235T>A) c.1662T>A (p.Ala554=) | |
8 | g.54625523T>C | CA461098308 | RP1 | c.1641T>C (p.Ala547=) c.787+3235T>C (n.787+3235T>C) c.1662T>C (p.Ala554=) | gnomAD v4 |
8 | g.54625523T>G | CA4751414 | RP1 | c.1641T>G (p.Ala547=) c.787+3235T>G (n.787+3235T>G) c.1662T>G (p.Ala554=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625523T= | CA1785187921 | RP1 | c.1641T= (p.Ala547=) c.787+3235T= (n.787+3235T=) c.1662T= (p.Ala554=) | |
8 | g.54625524G>A | CA370991083 | RP1 | c.1642G>A (p.Gly548Ser) c.787+3236G>A (n.787+3236G>A) c.1663G>A (p.Gly555Ser) | |
8 | g.54625524G>C | CA370991084 | RP1 | c.1642G>C (p.Gly548Arg) c.787+3236G>C (n.787+3236G>C) c.1663G>C (p.Gly555Arg) | |
8 | g.54625524G>T | CA370991086 | RP1 | c.1642G>T (p.Gly548Cys) c.787+3236G>T (n.787+3236G>T) c.1663G>T (p.Gly555Cys) | |
8 | g.54625525G>A | CA370991091 | RP1 | c.1643G>A (p.Gly548Asp) c.787+3237G>A (n.787+3237G>A) c.1664G>A (p.Gly555Asp) | dbSNP |
8 | g.54625525G>C | CA370991089 | RP1 | c.1643G>C (p.Gly548Ala) c.787+3237G>C (n.787+3237G>C) c.1664G>C (p.Gly555Ala) | |
8 | g.54625525G= | CA1785187922 | RP1 | c.1643G= (p.Gly548=) c.787+3237G= (n.787+3237G=) c.1664G= (p.Gly555=) | |
8 | g.54625525G>T | CA370991088 | RP1 | c.1643G>T (p.Gly548Val) c.787+3237G>T (n.787+3237G>T) c.1664G>T (p.Gly555Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.54625526T>A | CA461098311 | RP1 | c.1644T>A (p.Gly548=) c.787+3238T>A (n.787+3238T>A) c.1665T>A (p.Gly555=) | |
8 | g.54625526T>C | CA461098313 | RP1 | c.1644T>C (p.Gly548=) c.787+3238T>C (n.787+3238T>C) c.1665T>C (p.Gly555=) | |
8 | g.54625526T>G | CA461098312 | RP1 | c.1644T>G (p.Gly548=) c.787+3238T>G (n.787+3238T>G) c.1665T>G (p.Gly555=) | |
8 | g.54625527G>A | CA370991093 | RP1 | c.1645G>A (p.Val549Ile) c.787+3239G>A (n.787+3239G>A) c.1666G>A (p.Val556Ile) | |
8 | g.54625527G>C | CA370991095 | RP1 | c.1645G>C (p.Val549Leu) c.787+3239G>C (n.787+3239G>C) c.1666G>C (p.Val556Leu) | |
8 | g.54625527G= | CA1785187923 | RP1 | c.1645G= (p.Val549=) c.787+3239G= (n.787+3239G=) c.1666G= (p.Val556=) | |
8 | g.54625527G>T | CA370991097 | RP1 | c.1645G>T (p.Val549Phe) c.787+3239G>T (n.787+3239G>T) c.1666G>T (p.Val556Phe) | ClinVar dbSNP |
8 | g.54625528T>A | CA370991099 | RP1 | c.1646T>A (p.Val549Asp) c.787+3240T>A (n.787+3240T>A) c.1667T>A (p.Val556Asp) | |
8 | g.54625528T>C | CA370991100 | RP1 | c.1646T>C (p.Val549Ala) c.787+3240T>C (n.787+3240T>C) c.1667T>C (p.Val556Ala) | dbSNP COSMIC |
8 | g.54625528T>G | CA370991101 | RP1 | c.1646T>G (p.Val549Gly) c.787+3240T>G (n.787+3240T>G) c.1667T>G (p.Val556Gly) | |
8 | g.54625528T= | CA1785187924 | RP1 | c.1646T= (p.Val549=) c.787+3240T= (n.787+3240T=) c.1667T= (p.Val556=) | |
8 | g.54625529T>A | CA461098314 | RP1 | c.1647T>A (p.Val549=) c.787+3241T>A (n.787+3241T>A) c.1668T>A (p.Val556=) | |
8 | g.54625529T>C | CA461098315 | RP1 | c.1647T>C (p.Val549=) c.787+3241T>C (n.787+3241T>C) c.1668T>C (p.Val556=) | |
8 | g.54625529T>G | CA177236826 | RP1 | c.1647T>G (p.Val549=) c.787+3241T>G (n.787+3241T>G) c.1668T>G (p.Val556=) | ClinVar dbSNP |
8 | g.54625529T= | CA1785187925 | RP1 | c.1647T= (p.Val549=) c.787+3241T= (n.787+3241T=) c.1668T= (p.Val556=) | |
8 | g.54625531_54625532del | CA2739290086 | RP1 | c.1649_1650del (p.Ile550ArgfsTer13) c.787+3243_787+3244del (n.787+3243_787+3244del) c.1670_1671del (p.Ile557ArgfsTer13) | |
8 | g.54625530A>C | CA370991103 | RP1 | c.1648A>C (p.Ile550Leu) c.787+3242A>C (n.787+3242A>C) c.1669A>C (p.Ile557Leu) | |
8 | g.54625530A>G | CA370991104 | RP1 | c.1648A>G (p.Ile550Val) c.787+3242A>G (n.787+3242A>G) c.1669A>G (p.Ile557Val) | gnomAD v4 |
8 | g.54625530A>T | CA370991106 | RP1 | c.1648A>T (p.Ile550Leu) c.787+3242A>T (n.787+3242A>T) c.1669A>T (p.Ile557Leu) | |
8 | g.54625531T>A | CA370991108 | RP1 | c.1649T>A (p.Ile550Lys) c.787+3243T>A (n.787+3243T>A) c.1670T>A (p.Ile557Lys) | |
8 | g.54625531T>C | CA370991109 | RP1 | c.1649T>C (p.Ile550Thr) c.787+3243T>C (n.787+3243T>C) c.1670T>C (p.Ile557Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54625531T>G | CA370991111 | RP1 | c.1649T>G (p.Ile550Arg) c.787+3243T>G (n.787+3243T>G) c.1670T>G (p.Ile557Arg) | |
8 | g.54625531T= | CA1785187926 | RP1 | c.1649T= (p.Ile550=) c.787+3243T= (n.787+3243T=) c.1670T= (p.Ile557=) | |
8 | g.54625532A>C | CA461098316 | RP1 | c.1650A>C (p.Ile550=) c.787+3244A>C (n.787+3244A>C) c.1671A>C (p.Ile557=) | |
8 | g.54625532A>G | CA370991113 | RP1 | c.1650A>G (p.Ile550Met) c.787+3244A>G (n.787+3244A>G) c.1671A>G (p.Ile557Met) | |
8 | g.54625532A>T | CA461098317 | RP1 | c.1650A>T (p.Ile550=) c.787+3244A>T (n.787+3244A>T) c.1671A>T (p.Ile557=) | |
8 | g.54625533G>A | CA370991117 | RP1 | c.1651G>A (p.Glu551Lys) c.787+3245G>A (n.787+3245G>A) c.1672G>A (p.Glu558Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.54625533G>C | CA370991115 | RP1 | c.1651G>C (p.Glu551Gln) c.787+3245G>C (n.787+3245G>C) c.1672G>C (p.Glu558Gln) | ClinVar |
8 | g.54625533G= | CA1785187927 | RP1 | c.1651G= (p.Glu551=) c.787+3245G= (n.787+3245G=) c.1672G= (p.Glu558=) | |
8 | g.54625533G>T | CA370991116 | RP1 | c.1651G>T (p.Glu551Ter) c.787+3245G>T (n.787+3245G>T) c.1672G>T (p.Glu558Ter) | COSMIC |
8 | g.54625534A= | CA1785187928 | RP1 | c.1652A= (p.Glu551=) c.787+3246A= (n.787+3246A=) c.1673A= (p.Glu558=) | |
8 | g.54625534A>C | CA370991119 | RP1 | c.1652A>C (p.Glu551Ala) c.787+3246A>C (n.787+3246A>C) c.1673A>C (p.Glu558Ala) | dbSNP gnomAD v2 |
8 | g.54625534A>G | CA370991121 | RP1 | c.1652A>G (p.Glu551Gly) c.787+3246A>G (n.787+3246A>G) c.1673A>G (p.Glu558Gly) | |
8 | g.54625534A>T | CA370991123 | RP1 | c.1652A>T (p.Glu551Val) c.787+3246A>T (n.787+3246A>T) c.1673A>T (p.Glu558Val) | |
8 | g.54625535A>C | CA370991124 | RP1 | c.1653A>C (p.Glu551Asp) c.787+3247A>C (n.787+3247A>C) c.1674A>C (p.Glu558Asp) | |
8 | g.54625535A>G | CA461098319 | RP1 | c.1653A>G (p.Glu551=) c.787+3247A>G (n.787+3247A>G) c.1674A>G (p.Glu558=) | |
8 | g.54625535A>T | CA370991125 | RP1 | c.1653A>T (p.Glu551Asp) c.787+3247A>T (n.787+3247A>T) c.1674A>T (p.Glu558Asp) | |
8 | g.54625536A= | CA1785187929 | RP1 | c.1654A= (p.Ile552=) c.787+3248A= (n.787+3248A=) c.1675A= (p.Ile559=) | |
8 | g.54625536A>C | CA370991126 | RP1 | c.1654A>C (p.Ile552Leu) c.787+3248A>C (n.787+3248A>C) c.1675A>C (p.Ile559Leu) | |
8 | g.54625536A>G | CA370991127 | RP1 | c.1654A>G (p.Ile552Val) c.787+3248A>G (n.787+3248A>G) c.1675A>G (p.Ile559Val) | |
8 | g.54625536A>T | CA4751415 | RP1 | c.1654A>T (p.Ile552Phe) c.787+3248A>T (n.787+3248A>T) c.1675A>T (p.Ile559Phe) | dbSNP ExAC gnomAD v2 |
8 | g.54625537T>A | CA370991128 | RP1 | c.1655T>A (p.Ile552Asn) c.787+3249T>A (n.787+3249T>A) c.1676T>A (p.Ile559Asn) | |
8 | g.54625537T>C | CA370991129 | RP1 | c.1655T>C (p.Ile552Thr) c.787+3249T>C (n.787+3249T>C) c.1676T>C (p.Ile559Thr) | dbSNP |
8 | g.54625537T>G | CA370991130 | RP1 | c.1655T>G (p.Ile552Ser) c.787+3249T>G (n.787+3249T>G) c.1676T>G (p.Ile559Ser) | |
8 | g.54625537T= | CA1785187930 | RP1 | c.1655T= (p.Ile552=) c.787+3249T= (n.787+3249T=) c.1676T= (p.Ile559=) | |
8 | g.54625538T>A | CA461098321 | RP1 | c.1656T>A (p.Ile552=) c.787+3250T>A (n.787+3250T>A) c.1677T>A (p.Ile559=) | |
8 | g.54625538T>C | CA461098322 | RP1 | c.1656T>C (p.Ile552=) c.787+3250T>C (n.787+3250T>C) c.1677T>C (p.Ile559=) | gnomAD v4 |
8 | g.54625538T>G | CA370991131 | RP1 | c.1656T>G (p.Ile552Met) c.787+3250T>G (n.787+3250T>G) c.1677T>G (p.Ile559Met) | |
8 | g.54625538_54625548del | CA2780386998 | RP1 | c.1656_1666del (p.Thr553AspfsTer7) c.787+3250_787+3260del (n.787+3250_787+3260del) c.1677_1687del (p.Thr560AspfsTer7) | |
8 | g.54625539A= | CA1785187931 | RP1 | c.1657A= (p.Thr553=) c.787+3251A= (n.787+3251A=) c.1678A= (p.Thr560=) | |
8 | g.54625539A>C | CA370991134 | RP1 | c.1657A>C (p.Thr553Pro) c.787+3251A>C (n.787+3251A>C) c.1678A>C (p.Thr560Pro) | |
8 | g.54625539A>G | CA370991132 | RP1 | c.1657A>G (p.Thr553Ala) c.787+3251A>G (n.787+3251A>G) c.1678A>G (p.Thr560Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625539A>T | CA370991133 | RP1 | c.1657A>T (p.Thr553Ser) c.787+3251A>T (n.787+3251A>T) c.1678A>T (p.Thr560Ser) | |
8 | g.54625540C>A | CA370991135 | RP1 | c.1658C>A (p.Thr553Lys) c.787+3252C>A (n.787+3252C>A) c.1679C>A (p.Thr560Lys) | |
8 | g.54625540C= | CA1785187932 | RP1 | c.1658C= (p.Thr553=) c.787+3252C= (n.787+3252C=) c.1679C= (p.Thr560=) | |
8 | g.54625540C>G | CA370991138 | RP1 | c.1658C>G (p.Thr553Arg) c.787+3252C>G (n.787+3252C>G) c.1679C>G (p.Thr560Arg) | gnomAD v4 |
8 | g.54625540C>T | CA370991137 | RP1 | c.1658C>T (p.Thr553Ile) c.787+3252C>T (n.787+3252C>T) c.1679C>T (p.Thr560Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625541A= | CA1785187933 | RP1 | c.1659A= (p.Thr553=) c.787+3253A= (n.787+3253A=) c.1680A= (p.Thr560=) | |
8 | g.54625541A>C | CA461098325 | RP1 | c.1659A>C (p.Thr553=) c.787+3253A>C (n.787+3253A>C) c.1680A>C (p.Thr560=) | |
8 | g.54625541A>G | CA461098324 | RP1 | c.1659A>G (p.Thr553=) c.787+3253A>G (n.787+3253A>G) c.1680A>G (p.Thr560=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625541A>T | CA461098326 | RP1 | c.1659A>T (p.Thr553=) c.787+3253A>T (n.787+3253A>T) c.1680A>T (p.Thr560=) | |
8 | g.54625542A= | CA1785187934 | RP1 | c.1660A= (p.Ser554=) c.787+3254A= (n.787+3254A=) c.1681A= (p.Ser561=) | |
8 | g.54625542A>C | CA370991139 | RP1 | c.1660A>C (p.Ser554Arg) c.787+3254A>C (n.787+3254A>C) c.1681A>C (p.Ser561Arg) | |
8 | g.54625542A>G | CA4751416 | RP1 | c.1660A>G (p.Ser554Gly) c.787+3254A>G (n.787+3254A>G) c.1681A>G (p.Ser561Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54625542A>T | CA370991141 | RP1 | c.1660A>T (p.Ser554Cys) c.787+3254A>T (n.787+3254A>T) c.1681A>T (p.Ser561Cys) | |
8 | g.54625543G>A | CA370991143 | RP1 | c.1661G>A (p.Ser554Asn) c.787+3255G>A (n.787+3255G>A) c.1682G>A (p.Ser561Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625543G>C | CA370991144 | RP1 | c.1661G>C (p.Ser554Thr) c.787+3255G>C (n.787+3255G>C) c.1682G>C (p.Ser561Thr) | dbSNP |
8 | g.54625543G= | CA1785187935 | RP1 | c.1661G= (p.Ser554=) c.787+3255G= (n.787+3255G=) c.1682G= (p.Ser561=) | |
8 | g.54625543G>T | CA370991146 | RP1 | c.1661G>T (p.Ser554Ile) c.787+3255G>T (n.787+3255G>T) c.1682G>T (p.Ser561Ile) | |
8 | g.54625544T>A | CA370991147 | RP1 | c.1662T>A (p.Ser554Arg) c.787+3256T>A (n.787+3256T>A) c.1683T>A (p.Ser561Arg) | |
8 | g.54625544T>C | CA461098327 | RP1 | c.1662T>C (p.Ser554=) c.787+3256T>C (n.787+3256T>C) c.1683T>C (p.Ser561=) | |
8 | g.54625544T>G | CA370991149 | RP1 | c.1662T>G (p.Ser554Arg) c.787+3256T>G (n.787+3256T>G) c.1683T>G (p.Ser561Arg) | |
8 | g.54625545C>A | CA370991150 | RP1 | c.1663C>A (p.Gln555Lys) c.787+3257C>A (n.787+3257C>A) c.1684C>A (p.Gln562Lys) | gnomAD v4 |
8 | g.54625545C>G | CA370991152 | RP1 | c.1663C>G (p.Gln555Glu) c.787+3257C>G (n.787+3257C>G) c.1684C>G (p.Gln562Glu) | |
8 | g.54625545C>T | CA370991153 | RP1 | c.1663C>T (p.Gln555Ter) c.787+3257C>T (n.787+3257C>T) c.1684C>T (p.Gln562Ter) | gnomAD v4 |
8 | g.54625546A>C | CA370991158 | RP1 | c.1664A>C (p.Gln555Pro) c.787+3258A>C (n.787+3258A>C) c.1685A>C (p.Gln562Pro) | gnomAD v4 |
8 | g.54625546A>G | CA370991156 | RP1 | c.1664A>G (p.Gln555Arg) c.787+3258A>G (n.787+3258A>G) c.1685A>G (p.Gln562Arg) | |
8 | g.54625546A>T | CA370991155 | RP1 | c.1664A>T (p.Gln555Leu) c.787+3258A>T (n.787+3258A>T) c.1685A>T (p.Gln562Leu) | |
8 | g.54625547G>A | CA461098328 | RP1 | c.1665G>A (p.Gln555=) c.787+3259G>A (n.787+3259G>A) c.1686G>A (p.Gln562=) | COSMIC |
8 | g.54625547G>C | CA370991159 | RP1 | c.1665G>C (p.Gln555His) c.787+3259G>C (n.787+3259G>C) c.1686G>C (p.Gln562His) | |
8 | g.54625547G>T | CA370991160 | RP1 | c.1665G>T (p.Gln555His) c.787+3259G>T (n.787+3259G>T) c.1686G>T (p.Gln562His) | |
8 | g.54625548A>C | CA370991162 | RP1 | c.1666A>C (p.Lys556Gln) c.787+3260A>C (n.787+3260A>C) c.1687A>C (p.Lys563Gln) | |
8 | g.54625548A>G | CA370991163 | RP1 | c.1666A>G (p.Lys556Glu) c.787+3260A>G (n.787+3260A>G) c.1687A>G (p.Lys563Glu) | |
8 | g.54625548A>T | CA370991165 | RP1 | c.1666A>T (p.Lys556Ter) c.787+3260A>T (n.787+3260A>T) c.1687A>T (p.Lys563Ter) | |
8 | g.54625549A>C | CA370991167 | RP1 | c.1667A>C (p.Lys556Thr) c.787+3261A>C (n.787+3261A>C) c.1688A>C (p.Lys563Thr) | |
8 | g.54625549A>G | CA370991168 | RP1 | c.1667A>G (p.Lys556Arg) c.787+3261A>G (n.787+3261A>G) c.1688A>G (p.Lys563Arg) | |
8 | g.54625549A>T | CA370991169 | RP1 | c.1667A>T (p.Lys556Met) c.787+3261A>T (n.787+3261A>T) c.1688A>T (p.Lys563Met) | |
8 | g.54625550G>A | CA461098332 | RP1 | c.1668G>A (p.Lys556=) c.787+3262G>A (n.787+3262G>A) c.1689G>A (p.Lys563=) | gnomAD v4 |
8 | g.54625550G>C | CA370991171 | RP1 | c.1668G>C (p.Lys556Asn) c.787+3262G>C (n.787+3262G>C) c.1689G>C (p.Lys563Asn) | |
8 | g.54625550G= | CA1785187936 | RP1 | c.1668G= (p.Lys556=) c.787+3262G= (n.787+3262G=) c.1689G= (p.Lys563=) | |
8 | g.54625550G>T | CA370991173 | RP1 | c.1668G>T (p.Lys556Asn) c.787+3262G>T (n.787+3262G>T) c.1689G>T (p.Lys563Asn) | dbSNP |
8 | g.54625551A>C | CA370991174 | RP1 | c.1669A>C (p.Met557Leu) c.787+3263A>C (n.787+3263A>C) c.1690A>C (p.Met564Leu) | |
8 | g.54625551A>G | CA370991176 | RP1 | c.1669A>G (p.Met557Val) c.787+3263A>G (n.787+3263A>G) c.1690A>G (p.Met564Val) | ClinVar |
8 | g.54625551A>T | CA370991177 | RP1 | c.1669A>T (p.Met557Leu) c.787+3263A>T (n.787+3263A>T) c.1690A>T (p.Met564Leu) | |
8 | g.54625552T>A | CA370991182 | RP1 | c.1670T>A (p.Met557Lys) c.787+3264T>A (n.787+3264T>A) c.1691T>A (p.Met564Lys) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54625552T>C | CA4751417 | RP1 | c.1670T>C (p.Met557Thr) c.787+3264T>C (n.787+3264T>C) c.1691T>C (p.Met564Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625552T>G | CA370991179 | RP1 | c.1670T>G (p.Met557Arg) c.787+3264T>G (n.787+3264T>G) c.1691T>G (p.Met564Arg) | |
8 | g.54625552T= | CA1785187937 | RP1 | c.1670T= (p.Met557=) c.787+3264T= (n.787+3264T=) c.1691T= (p.Met564=) | |
8 | g.54625553G>A | CA370991187 | RP1 | c.1671G>A (p.Met557Ile) c.787+3265G>A (n.787+3265G>A) c.1692G>A (p.Met564Ile) | |
8 | g.54625553G>C | CA370991184 | RP1 | c.1671G>C (p.Met557Ile) c.787+3265G>C (n.787+3265G>C) c.1692G>C (p.Met564Ile) | |
8 | g.54625553G>T | CA370991185 | RP1 | c.1671G>T (p.Met557Ile) c.787+3265G>T (n.787+3265G>T) c.1692G>T (p.Met564Ile) | |
8 | g.54625554T>A | CA370991189 | RP1 | c.1672T>A (p.Leu558Ile) c.787+3266T>A (n.787+3266T>A) c.1693T>A (p.Leu565Ile) | |
8 | g.54625554T>C | CA461098334 | RP1 | c.1672T>C (p.Leu558=) c.787+3266T>C (n.787+3266T>C) c.1693T>C (p.Leu565=) | gnomAD v4 |
8 | g.54625554T>G | CA370991190 | RP1 | c.1672T>G (p.Leu558Val) c.787+3266T>G (n.787+3266T>G) c.1693T>G (p.Leu565Val) | gnomAD v4 |
8 | g.54625555T>A | CA370991191 | RP1 | c.1673T>A (p.Leu558Ter) c.787+3267T>A (n.787+3267T>A) c.1694T>A (p.Leu565Ter) | |
8 | g.54625555T>C | CA370991193 | RP1 | c.1673T>C (p.Leu558Ser) c.787+3267T>C (n.787+3267T>C) c.1694T>C (p.Leu565Ser) | |
8 | g.54625555T>G | CA370991195 | RP1 | c.1673T>G (p.Leu558Ter) c.787+3267T>G (n.787+3267T>G) c.1694T>G (p.Leu565Ter) | |
8 | g.54625556A>C | CA370991197 | RP1 | c.1674A>C (p.Leu558Phe) c.787+3268A>C (n.787+3268A>C) c.1695A>C (p.Leu565Phe) | |
8 | g.54625556A>G | CA461098335 | RP1 | c.1674A>G (p.Leu558=) c.787+3268A>G (n.787+3268A>G) c.1695A>G (p.Leu565=) | |
8 | g.54625556A>T | CA370991199 | RP1 | c.1674A>T (p.Leu558Phe) c.787+3268A>T (n.787+3268A>T) c.1695A>T (p.Leu565Phe) | |
8 | g.54625557G>A | CA4751418 | RP1 | c.1675G>A (p.Glu559Lys) c.787+3269G>A (n.787+3269G>A) c.1696G>A (p.Glu566Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54625557G>C | CA370991201 | RP1 | c.1675G>C (p.Glu559Gln) c.787+3269G>C (n.787+3269G>C) c.1696G>C (p.Glu566Gln) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.54625557G= | CA1785187938 | RP1 | c.1675G= (p.Glu559=) c.787+3269G= (n.787+3269G=) c.1696G= (p.Glu566=) | |
8 | g.54625557G>T | CA370991202 | RP1 | c.1675G>T (p.Glu559Ter) c.787+3269G>T (n.787+3269G>T) c.1696G>T (p.Glu566Ter) | |
8 | g.54625558A>C | CA370991206 | RP1 | c.1676A>C (p.Glu559Ala) c.787+3270A>C (n.787+3270A>C) c.1697A>C (p.Glu566Ala) | |
8 | g.54625558A>G | CA370991208 | RP1 | c.1676A>G (p.Glu559Gly) c.787+3270A>G (n.787+3270A>G) c.1697A>G (p.Glu566Gly) | |
8 | g.54625558A>T | CA370991205 | RP1 | c.1676A>T (p.Glu559Val) c.787+3270A>T (n.787+3270A>T) c.1697A>T (p.Glu566Val) | |
8 | g.54625558_54625559insTACT | CA2843341841 | RP1 | c.1676_1677insTACT (p.Glu559AspfsTer6) c.787+3270_787+3271insTACT (n.787+3270_787+3271insTACT) c.1697_1698insTACT (p.Glu566AspfsTer6) | |
8 | g.54625559G>A | CA461098337 | RP1 | c.1677G>A (p.Glu559=) c.787+3271G>A (n.787+3271G>A) c.1698G>A (p.Glu566=) | |
8 | g.54625559G>C | CA370991209 | RP1 | c.1677G>C (p.Glu559Asp) c.787+3271G>C (n.787+3271G>C) c.1698G>C (p.Glu566Asp) | |
8 | g.54625559G>T | CA370991211 | RP1 | c.1677G>T (p.Glu559Asp) c.787+3271G>T (n.787+3271G>T) c.1698G>T (p.Glu566Asp) | COSMIC |
8 | g.54625560A= | CA1785187939 | RP1 | c.1678A= (p.Met560=) c.787+3272A= (n.787+3272A=) c.1699A= (p.Met567=) | |
8 | g.54625560A>C | CA370991213 | RP1 | c.1678A>C (p.Met560Leu) c.787+3272A>C (n.787+3272A>C) c.1699A>C (p.Met567Leu) | |
8 | g.54625560A>G | CA370991215 | RP1 | c.1678A>G (p.Met560Val) c.787+3272A>G (n.787+3272A>G) c.1699A>G (p.Met567Val) | |
8 | g.54625560A>T | CA370991216 | RP1 | c.1678A>T (p.Met560Leu) c.787+3272A>T (n.787+3272A>T) c.1699A>T (p.Met567Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625560_54625561insAGAAAGGTAGCTGATTACTATGCTTTAACTT | CA1785187940 | RP1 | c.1678_1679insAGAAAGGTAGCTGATTACTATGCTTTAACTT (p.Met560LysfsTer5) c.787+3272_787+3273insAGAAAGGTAGCTGATTACTATGCTTTAACTT (n.787+3272_787+3273insAGAAAGGTAGCTGATTACTATGCTTTAACTT) c.1699_1700insAGAAAGGTAGCTGATTACTATGCTTTAACTT (p.Met567LysfsTer5) | dbSNP |
8 | g.54625561T>A | CA370991221 | RP1 | c.1679T>A (p.Met560Lys) c.787+3273T>A (n.787+3273T>A) c.1700T>A (p.Met567Lys) | |
8 | g.54625561T>C | CA370991218 | RP1 | c.1679T>C (p.Met560Thr) c.787+3273T>C (n.787+3273T>C) c.1700T>C (p.Met567Thr) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.54625561T>G | CA370991220 | RP1 | c.1679T>G (p.Met560Arg) c.787+3273T>G (n.787+3273T>G) c.1700T>G (p.Met567Arg) | |
8 | g.54625561T= | CA1785187941 | RP1 | c.1679T= (p.Met560=) c.787+3273T= (n.787+3273T=) c.1700T= (p.Met567=) | |
8 | g.54625562G>A | CA370991223 | RP1 | c.1680G>A (p.Met560Ile) c.787+3274G>A (n.787+3274G>A) c.1701G>A (p.Met567Ile) | ClinVar gnomAD v4 |
8 | g.54625562G>C | CA370991225 | RP1 | c.1680G>C (p.Met560Ile) c.787+3274G>C (n.787+3274G>C) c.1701G>C (p.Met567Ile) | |
8 | g.54625562G>T | CA370991227 | RP1 | c.1680G>T (p.Met560Ile) c.787+3274G>T (n.787+3274G>T) c.1701G>T (p.Met567Ile) | |
8 | g.54625563T>A | CA370991229 | RP1 | c.1681T>A (p.Ser561Thr) c.787+3275T>A (n.787+3275T>A) c.1702T>A (p.Ser568Thr) | gnomAD v4 |
8 | g.54625563T>C | CA370991230 | RP1 | c.1681T>C (p.Ser561Pro) c.787+3275T>C (n.787+3275T>C) c.1702T>C (p.Ser568Pro) | |
8 | g.54625563T>G | CA370991231 | RP1 | c.1681T>G (p.Ser561Ala) c.787+3275T>G (n.787+3275T>G) c.1702T>G (p.Ser568Ala) | |
8 | g.54625564del | CA2687301825 | RP1 | c.1682del (p.Ser561TyrfsTer20) c.787+3276del (n.787+3276del) c.1703del (p.Ser568TyrfsTer20) | gnomAD v4 |
8 | g.54625564C>A | CA370991235 | RP1 | c.1682C>A (p.Ser561Ter) c.787+3276C>A (n.787+3276C>A) c.1703C>A (p.Ser568Ter) | |
8 | g.54625564C>G | CA370991237 | RP1 | c.1682C>G (p.Ser561Ter) c.787+3276C>G (n.787+3276C>G) c.1703C>G (p.Ser568Ter) | |
8 | g.54625564C>T | CA370991233 | RP1 | c.1682C>T (p.Ser561Leu) c.787+3276C>T (n.787+3276C>T) c.1703C>T (p.Ser568Leu) | gnomAD v4 |
8 | g.54625565A= | CA1785187942 | RP1 | c.1683A= (p.Ser561=) c.787+3277A= (n.787+3277A=) c.1704A= (p.Ser568=) | |
8 | g.54625565A>C | CA461098341 | RP1 | c.1683A>C (p.Ser561=) c.787+3277A>C (n.787+3277A>C) c.1704A>C (p.Ser568=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54625565A>G | CA461098342 | RP1 | c.1683A>G (p.Ser561=) c.787+3277A>G (n.787+3277A>G) c.1704A>G (p.Ser568=) | |
8 | g.54625565A>T | CA461098344 | RP1 | c.1683A>T (p.Ser561=) c.787+3277A>T (n.787+3277A>T) c.1704A>T (p.Ser568=) | dbSNP |
8 | g.54625566C>A | CA370991239 | RP1 | c.1684C>A (p.His562Asn) c.787+3278C>A (n.787+3278C>A) c.1705C>A (p.His569Asn) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54625566C= | CA1785187943 | RP1 | c.1684C= (p.His562=) c.787+3278C= (n.787+3278C=) c.1705C= (p.His569=) | |
8 | g.54625566C>G | CA370991241 | RP1 | c.1684C>G (p.His562Asp) c.787+3278C>G (n.787+3278C>G) c.1705C>G (p.His569Asp) | gnomAD v4 |
8 | g.54625566C>T | CA370991240 | RP1 | c.1684C>T (p.His562Tyr) c.787+3278C>T (n.787+3278C>T) c.1705C>T (p.His569Tyr) | dbSNP gnomAD v4 |
8 | g.54625567A>C | CA370991242 | RP1 | c.1685A>C (p.His562Pro) c.787+3279A>C (n.787+3279A>C) c.1706A>C (p.His569Pro) | |
8 | g.54625567A>G | CA370991243 | RP1 | c.1685A>G (p.His562Arg) c.787+3279A>G (n.787+3279A>G) c.1706A>G (p.His569Arg) | |
8 | g.54625567A>T | CA370991245 | RP1 | c.1685A>T (p.His562Leu) c.787+3279A>T (n.787+3279A>T) c.1706A>T (p.His569Leu) | |
8 | g.54625572_54625574dup | CA1785187944 | RP1 | c.1690_1692dup (p.Asn564_Gly565insAsn) c.787+3284_787+3286dup (n.787+3284_787+3286dup) c.1711_1713dup (p.Asn571_Gly572insAsn) | dbSNP |
8 | g.54625568T>A | CA370991246 | RP1 | c.1686T>A (p.His562Gln) c.787+3280T>A (n.787+3280T>A) c.1707T>A (p.His569Gln) | gnomAD v4 |
8 | g.54625568T>C | CA461098347 | RP1 | c.1686T>C (p.His562=) c.787+3280T>C (n.787+3280T>C) c.1707T>C (p.His569=) | |
8 | g.54625568T>G | CA370991248 | RP1 | c.1686T>G (p.His562Gln) c.787+3280T>G (n.787+3280T>G) c.1707T>G (p.His569Gln) | |
8 | g.54625569A>C | CA370991250 | RP1 | c.1687A>C (p.Asn563His) c.787+3281A>C (n.787+3281A>C) c.1708A>C (p.Asn570His) | |
8 | g.54625569A>G | CA370991251 | RP1 | c.1687A>G (p.Asn563Asp) c.787+3281A>G (n.787+3281A>G) c.1708A>G (p.Asn570Asp) | |
8 | g.54625569A>T | CA370991252 | RP1 | c.1687A>T (p.Asn563Tyr) c.787+3281A>T (n.787+3281A>T) c.1708A>T (p.Asn570Tyr) | |
8 | g.54625570A>C | CA370991253 | RP1 | c.1688A>C (p.Asn563Thr) c.787+3282A>C (n.787+3282A>C) c.1709A>C (p.Asn570Thr) | |
8 | g.54625570A>G | CA370991254 | RP1 | c.1688A>G (p.Asn563Ser) c.787+3282A>G (n.787+3282A>G) c.1709A>G (p.Asn570Ser) | gnomAD v4 |
8 | g.54625570A>T | CA370991256 | RP1 | c.1688A>T (p.Asn563Ile) c.787+3282A>T (n.787+3282A>T) c.1709A>T (p.Asn570Ile) | |
8 | g.54625571T>A | CA370991259 | RP1 | c.1689T>A (p.Asn563Lys) c.787+3283T>A (n.787+3283T>A) c.1710T>A (p.Asn570Lys) | |
8 | g.54625571T>C | CA461098349 | RP1 | c.1689T>C (p.Asn563=) c.787+3283T>C (n.787+3283T>C) c.1710T>C (p.Asn570=) | |
8 | g.54625571T>G | CA370991258 | RP1 | c.1689T>G (p.Asn563Lys) c.787+3283T>G (n.787+3283T>G) c.1710T>G (p.Asn570Lys) | |
8 | g.54625571dup | CA2843341842 | RP1 | c.1689dup (p.Asn564Ter) c.787+3283dup (n.787+3283dup) c.1710dup (p.Asn571Ter) | |
8 | g.54625572A= | CA1785187945 | RP1 | c.1690A= (p.Asn564=) c.787+3284A= (n.787+3284A=) c.1711A= (p.Asn571=) | |
8 | g.54625572A>C | CA370991261 | RP1 | c.1690A>C (p.Asn564His) c.787+3284A>C (n.787+3284A>C) c.1711A>C (p.Asn571His) | |
8 | g.54625572A>G | CA4751419 | RP1 | c.1690A>G (p.Asn564Asp) c.787+3284A>G (n.787+3284A>G) c.1711A>G (p.Asn571Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625572A>T | CA370991263 | RP1 | c.1690A>T (p.Asn564Tyr) c.787+3284A>T (n.787+3284A>T) c.1711A>T (p.Asn571Tyr) | |
8 | g.54625573A= | CA1785187946 | RP1 | c.1691A= (p.Asn564=) c.787+3285A= (n.787+3285A=) c.1712A= (p.Asn571=) | |
8 | g.54625573A>C | CA370991265 | RP1 | c.1691A>C (p.Asn564Thr) c.787+3285A>C (n.787+3285A>C) c.1712A>C (p.Asn571Thr) | |
8 | g.54625573A>G | CA4751420 | RP1 | c.1691A>G (p.Asn564Ser) c.787+3285A>G (n.787+3285A>G) c.1712A>G (p.Asn571Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54625573A>T | CA370991267 | RP1 | c.1691A>T (p.Asn564Ile) c.787+3285A>T (n.787+3285A>T) c.1712A>T (p.Asn571Ile) | |
8 | g.54625574T>A | CA370991269 | RP1 | c.1692T>A (p.Asn564Lys) c.787+3286T>A (n.787+3286T>A) c.1713T>A (p.Asn571Lys) | |
8 | g.54625574T>C | CA4751421 | RP1 | c.1692T>C (p.Asn564=) c.787+3286T>C (n.787+3286T>C) c.1713T>C (p.Asn571=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54625574T>G | CA370991271 | RP1 | c.1692T>G (p.Asn564Lys) c.787+3286T>G (n.787+3286T>G) c.1713T>G (p.Asn571Lys) | |
8 | g.54625574T= | CA1785187947 | RP1 | c.1692T= (p.Asn564=) c.787+3286T= (n.787+3286T=) c.1713T= (p.Asn571=) | |
8 | g.54625575G>A | CA370991273 | RP1 | c.1693G>A (p.Gly565Ser) c.787+3287G>A (n.787+3287G>A) c.1714G>A (p.Gly572Ser) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.54625575G>C | CA370991275 | RP1 | c.1693G>C (p.Gly565Arg) c.787+3287G>C (n.787+3287G>C) c.1714G>C (p.Gly572Arg) | |
8 | g.54625575G= | CA1785187948 | RP1 | c.1693G= (p.Gly565=) c.787+3287G= (n.787+3287G=) c.1714G= (p.Gly572=) | |
8 | g.54625575G>T | CA370991276 | RP1 | c.1693G>T (p.Gly565Cys) c.787+3287G>T (n.787+3287G>T) c.1714G>T (p.Gly572Cys) | gnomAD v4 |
8 | g.54625576G>A | CA4751422 | RP1 | c.1694G>A (p.Gly565Asp) c.787+3288G>A (n.787+3288G>A) c.1715G>A (p.Gly572Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625576G>C | CA370991280 | RP1 | c.1694G>C (p.Gly565Ala) c.787+3288G>C (n.787+3288G>C) c.1715G>C (p.Gly572Ala) | |
8 | g.54625576G= | CA1785187949 | RP1 | c.1694G= (p.Gly565=) c.787+3288G= (n.787+3288G=) c.1715G= (p.Gly572=) | |
8 | g.54625576G>T | CA370991279 | RP1 | c.1694G>T (p.Gly565Val) c.787+3288G>T (n.787+3288G>T) c.1715G>T (p.Gly572Val) | |
8 | g.54625576_54625577delinsGT | CA1785187950 | RP1 | c.1694_1695delinsGT (p.Gly565=) c.787+3288_787+3289delinsGT (n.787+3288_787+3289delinsGT) c.1715_1716delinsGT (p.Gly572=) | |
8 | g.54625577T>A | CA461098354 | RP1 | c.1695T>A (p.Gly565=) c.787+3289T>A (n.787+3289T>A) c.1716T>A (p.Gly572=) | |
8 | g.54625577T>C | CA461098353 | RP1 | c.1695T>C (p.Gly565=) c.787+3289T>C (n.787+3289T>C) c.1716T>C (p.Gly572=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54625577T>G | CA461098352 | RP1 | c.1695T>G (p.Gly565=) c.787+3289T>G (n.787+3289T>G) c.1716T>G (p.Gly572=) | COSMIC |
8 | g.54625577T= | CA1785187951 | RP1 | c.1695T= (p.Gly565=) c.787+3289T= (n.787+3289T=) c.1716T= (p.Gly572=) | |
8 | g.54625579del | CA582204260 | RP1 | c.1697del (p.Leu566CysfsTer15) c.787+3291del (n.787+3291del) c.1718del (p.Leu573CysfsTer15) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54625578T>A | CA370991282 | RP1 | c.1696T>A (p.Leu566Met) c.787+3290T>A (n.787+3290T>A) c.1717T>A (p.Leu573Met) | |
8 | g.54625578T>C | CA461098355 | RP1 | c.1696T>C (p.Leu566=) c.787+3290T>C (n.787+3290T>C) c.1717T>C (p.Leu573=) | |
8 | g.54625578T>G | CA370991284 | RP1 | c.1696T>G (p.Leu566Val) c.787+3290T>G (n.787+3290T>G) c.1717T>G (p.Leu573Val) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.54625578T= | CA1785187952 | RP1 | c.1696T= (p.Leu566=) c.787+3290T= (n.787+3290T=) c.1717T= (p.Leu573=) | |
8 | g.54625579T>A | CA370991285 | RP1 | c.1697T>A (p.Leu566Ter) c.787+3291T>A (n.787+3291T>A) c.1718T>A (p.Leu573Ter) | |
8 | g.54625579T>C | CA370991287 | RP1 | c.1697T>C (p.Leu566Ser) c.787+3291T>C (n.787+3291T>C) c.1718T>C (p.Leu573Ser) | |
8 | g.54625579T>G | CA370991288 | RP1 | c.1697T>G (p.Leu566Trp) c.787+3291T>G (n.787+3291T>G) c.1718T>G (p.Leu573Trp) | |
8 | g.54625580G>A | CA461098357 | RP1 | c.1698G>A (p.Leu566=) c.787+3292G>A (n.787+3292G>A) c.1719G>A (p.Leu573=) | |
8 | g.54625580G>C | CA370991290 | RP1 | c.1698G>C (p.Leu566Phe) c.787+3292G>C (n.787+3292G>C) c.1719G>C (p.Leu573Phe) | |
8 | g.54625580G= | CA1785187953 | RP1 | c.1698G= (p.Leu566=) c.787+3292G= (n.787+3292G=) c.1719G= (p.Leu573=) | |
8 | g.54625580G>T | CA370991292 | RP1 | c.1698G>T (p.Leu566Phe) c.787+3292G>T (n.787+3292G>T) c.1719G>T (p.Leu573Phe) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54625581C>A | CA370991293 | RP1 | c.1699C>A (p.Pro567Thr) c.787+3293C>A (n.787+3293C>A) c.1720C>A (p.Pro574Thr) | |
8 | g.54625581C= | CA1785187954 | RP1 | c.1699C= (p.Pro567=) c.787+3293C= (n.787+3293C=) c.1720C= (p.Pro574=) | |
8 | g.54625581C>G | CA370991295 | RP1 | c.1699C>G (p.Pro567Ala) c.787+3293C>G (n.787+3293C>G) c.1720C>G (p.Pro574Ala) | |
8 | g.54625581C>T | CA370991297 | RP1 | c.1699C>T (p.Pro567Ser) c.787+3293C>T (n.787+3293C>T) c.1720C>T (p.Pro574Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625582C>A | CA370991299 | RP1 | c.1700C>A (p.Pro567Gln) c.787+3294C>A (n.787+3294C>A) c.1721C>A (p.Pro574Gln) | |
8 | g.54625582C= | CA1785187956 | RP1 | c.1700C= (p.Pro567=) c.787+3294C= (n.787+3294C=) c.1721C= (p.Pro574=) | |
8 | g.54625582C>G | CA370991300 | RP1 | c.1700C>G (p.Pro567Arg) c.787+3294C>G (n.787+3294C>G) c.1721C>G (p.Pro574Arg) | |
8 | g.54625582C>T | CA370991302 | RP1 | c.1700C>T (p.Pro567Leu) c.787+3294C>T (n.787+3294C>T) c.1721C>T (p.Pro574Leu) | dbSNP |
8 | g.54625582_54625583delinsCA | CA1785187955 | RP1 | c.1700_1701delinsCA (p.Pro567=) c.787+3294_787+3295delinsCA (n.787+3294_787+3295delinsCA) c.1721_1722delinsCA (p.Pro574=) | |
8 | g.54625583del | CA918265016 | RP1 | c.1701del (p.Ser568GlnfsTer13) c.787+3295del (n.787+3295del) c.1722del (p.Ser575GlnfsTer13) | dbSNP gnomAD v4 |
8 | g.54625583A= | CA1785187957 | RP1 | c.1701A= (p.Pro567=) c.787+3295A= (n.787+3295A=) c.1722A= (p.Pro574=) | |
8 | g.54625583A>C | CA461098358 | RP1 | c.1701A>C (p.Pro567=) c.787+3295A>C (n.787+3295A>C) c.1722A>C (p.Pro574=) | |
8 | g.54625583A>G | CA461098361 | RP1 | c.1701A>G (p.Pro567=) c.787+3295A>G (n.787+3295A>G) c.1722A>G (p.Pro574=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54625583A>T | CA461098359 | RP1 | c.1701A>T (p.Pro567=) c.787+3295A>T (n.787+3295A>T) c.1722A>T (p.Pro574=) | |
8 | g.54625584del | CA2536497448 | RP1 | c.1702del (p.Ser568GlnfsTer13) c.787+3296del (n.787+3296del) c.1723del (p.Ser575GlnfsTer13) | |
8 | g.54625584T>A | CA370991307 | RP1 | c.1702T>A (p.Ser568Thr) c.787+3296T>A (n.787+3296T>A) c.1723T>A (p.Ser575Thr) | |
8 | g.54625584T>C | CA370991306 | RP1 | c.1702T>C (p.Ser568Pro) c.787+3296T>C (n.787+3296T>C) c.1723T>C (p.Ser575Pro) | |
8 | g.54625584T>G | CA370991304 | RP1 | c.1702T>G (p.Ser568Ala) c.787+3296T>G (n.787+3296T>G) c.1723T>G (p.Ser575Ala) | |
8 | g.54625585C>A | CA370991308 | RP1 | c.1703C>A (p.Ser568Ter) c.787+3297C>A (n.787+3297C>A) c.1724C>A (p.Ser575Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625585C= | CA1785187958 | RP1 | c.1703C= (p.Ser568=) c.787+3297C= (n.787+3297C=) c.1724C= (p.Ser575=) | |
8 | g.54625585C>G | CA370991309 | RP1 | c.1703C>G (p.Ser568Ter) c.787+3297C>G (n.787+3297C>G) c.1724C>G (p.Ser575Ter) | |
8 | g.54625585C>T | CA370991311 | RP1 | c.1703C>T (p.Ser568Leu) c.787+3297C>T (n.787+3297C>T) c.1724C>T (p.Ser575Leu) | |
8 | g.54625586A= | CA1785187959 | RP1 | c.1704A= (p.Ser568=) c.787+3298A= (n.787+3298A=) c.1725A= (p.Ser575=) | |
8 | g.54625586A>C | CA461098362 | RP1 | c.1704A>C (p.Ser568=) c.787+3298A>C (n.787+3298A>C) c.1725A>C (p.Ser575=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625586A>G | CA461098363 | RP1 | c.1704A>G (p.Ser568=) c.787+3298A>G (n.787+3298A>G) c.1725A>G (p.Ser575=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54625586A>T | CA461098364 | RP1 | c.1704A>T (p.Ser568=) c.787+3298A>T (n.787+3298A>T) c.1725A>T (p.Ser575=) | |
8 | g.54625586_54625587insG | CA2533104747 | RP1 | c.1704_1705insG (p.Thr569AspfsTer5) c.787+3298_787+3299insG (n.787+3298_787+3299insG) c.1725_1726insG (p.Thr576AspfsTer5) | |
8 | g.54625587A= | CA1785187960 | RP1 | c.1705A= (p.Thr569=) c.787+3299A= (n.787+3299A=) c.1726A= (p.Thr576=) | |
8 | g.54625587A>C | CA370991312 | RP1 | c.1705A>C (p.Thr569Pro) c.787+3299A>C (n.787+3299A>C) c.1726A>C (p.Thr576Pro) | |
8 | g.54625587A>G | CA370991314 | RP1 | c.1705A>G (p.Thr569Ala) c.787+3299A>G (n.787+3299A>G) c.1726A>G (p.Thr576Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625587A>T | CA370991315 | RP1 | c.1705A>T (p.Thr569Ser) c.787+3299A>T (n.787+3299A>T) c.1726A>T (p.Thr576Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54625588C>A | CA370991317 | RP1 | c.1706C>A (p.Thr569Asn) c.787+3300C>A (n.787+3300C>A) c.1727C>A (p.Thr576Asn) | |
8 | g.54625588C= | CA1785187961 | RP1 | c.1706C= (p.Thr569=) c.787+3300C= (n.787+3300C=) c.1727C= (p.Thr576=) | |
8 | g.54625588C>G | CA370991318 | RP1 | c.1706C>G (p.Thr569Ser) c.787+3300C>G (n.787+3300C>G) c.1727C>G (p.Thr576Ser) | dbSNP gnomAD v4 |
8 | g.54625588C>T | CA177236840 | RP1 | c.1706C>T (p.Thr569Ile) c.787+3300C>T (n.787+3300C>T) c.1727C>T (p.Thr576Ile) | ClinVar dbSNP gnomAD v4 |
8 | g.54625589T>A | CA461098366 | RP1 | c.1707T>A (p.Thr569=) c.787+3301T>A (n.787+3301T>A) c.1728T>A (p.Thr576=) | |
8 | g.54625589T>C | CA461098369 | RP1 | c.1707T>C (p.Thr569=) c.787+3301T>C (n.787+3301T>C) c.1728T>C (p.Thr576=) | COSMIC |
8 | g.54625589T>G | CA461098368 | RP1 | c.1707T>G (p.Thr569=) c.787+3301T>G (n.787+3301T>G) c.1728T>G (p.Thr576=) | |
8 | g.54625590A= | CA1785187962 | RP1 | c.1708A= (p.Ile570=) c.787+3302A= (n.787+3302A=) c.1729A= (p.Ile577=) | |
8 | g.54625590A>C | CA370991321 | RP1 | c.1708A>C (p.Ile570Leu) c.787+3302A>C (n.787+3302A>C) c.1729A>C (p.Ile577Leu) | gnomAD v4 |
8 | g.54625590A>G | CA370991322 | RP1 | c.1708A>G (p.Ile570Val) c.787+3302A>G (n.787+3302A>G) c.1729A>G (p.Ile577Val) | dbSNP gnomAD v4 |
8 | g.54625590A>T | CA370991323 | RP1 | c.1708A>T (p.Ile570Leu) c.787+3302A>T (n.787+3302A>T) c.1729A>T (p.Ile577Leu) | |
8 | g.54625591T>A | CA370991324 | RP1 | c.1709T>A (p.Ile570Lys) c.787+3303T>A (n.787+3303T>A) c.1730T>A (p.Ile577Lys) | |
8 | g.54625591T>C | CA370991327 | RP1 | c.1709T>C (p.Ile570Thr) c.787+3303T>C (n.787+3303T>C) c.1730T>C (p.Ile577Thr) | |
8 | g.54625591T>G | CA370991325 | RP1 | c.1709T>G (p.Ile570Arg) c.787+3303T>G (n.787+3303T>G) c.1730T>G (p.Ile577Arg) | |
8 | g.54625592A= | CA1785187963 | RP1 | c.1710A= (p.Ile570=) c.787+3304A= (n.787+3304A=) c.1731A= (p.Ile577=) | |
8 | g.54625592A>C | CA461098371 | RP1 | c.1710A>C (p.Ile570=) c.787+3304A>C (n.787+3304A>C) c.1731A>C (p.Ile577=) | |
8 | g.54625592A>G | CA370991329 | RP1 | c.1710A>G (p.Ile570Met) c.787+3304A>G (n.787+3304A>G) c.1731A>G (p.Ile577Met) | dbSNP gnomAD v4 |
8 | g.54625592A>T | CA461098372 | RP1 | c.1710A>T (p.Ile570=) c.787+3304A>T (n.787+3304A>T) c.1731A>T (p.Ile577=) | |
8 | g.54625593T>A | CA370991333 | RP1 | c.1711T>A (p.Ser571Thr) c.787+3305T>A (n.787+3305T>A) c.1732T>A (p.Ser578Thr) | |
8 | g.54625593T>C | CA370991330 | RP1 | c.1711T>C (p.Ser571Pro) c.787+3305T>C (n.787+3305T>C) c.1732T>C (p.Ser578Pro) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.54625593T>G | CA370991331 | RP1 | c.1711T>G (p.Ser571Ala) c.787+3305T>G (n.787+3305T>G) c.1732T>G (p.Ser578Ala) | |
8 | g.54625593T= | CA1785187964 | RP1 | c.1711T= (p.Ser571=) c.787+3305T= (n.787+3305T=) c.1732T= (p.Ser578=) | |
8 | g.54625594C>A | CA370991335 | RP1 | c.1712C>A (p.Ser571Ter) c.787+3306C>A (n.787+3306C>A) c.1733C>A (p.Ser578Ter) | |
8 | g.54625594C>G | CA370991337 | RP1 | c.1712C>G (p.Ser571Ter) c.787+3306C>G (n.787+3306C>G) c.1733C>G (p.Ser578Ter) | |
8 | g.54625594C>T | CA370991338 | RP1 | c.1712C>T (p.Ser571Leu) c.787+3306C>T (n.787+3306C>T) c.1733C>T (p.Ser578Leu) | COSMIC |
8 | g.54625595A>C | CA461098376 | RP1 | c.1713A>C (p.Ser571=) c.787+3307A>C (n.787+3307A>C) c.1734A>C (p.Ser578=) | |
8 | g.54625595A>G | CA461098377 | RP1 | c.1713A>G (p.Ser571=) c.787+3307A>G (n.787+3307A>G) c.1734A>G (p.Ser578=) | |
8 | g.54625595A>T | CA461098378 | RP1 | c.1713A>T (p.Ser571=) c.787+3307A>T (n.787+3307A>T) c.1734A>T (p.Ser578=) | |
8 | g.54625596A>C | CA370991340 | RP1 | c.1714A>C (p.Asn572His) c.787+3308A>C (n.787+3308A>C) c.1735A>C (p.Asn579His) | |
8 | g.54625596A>G | CA370991341 | RP1 | c.1714A>G (p.Asn572Asp) c.787+3308A>G (n.787+3308A>G) c.1735A>G (p.Asn579Asp) | |
8 | g.54625596A>T | CA370991343 | RP1 | c.1714A>T (p.Asn572Tyr) c.787+3308A>T (n.787+3308A>T) c.1735A>T (p.Asn579Tyr) | |
8 | g.54625597A= | CA1785187965 | RP1 | c.1715A= (p.Asn572=) c.787+3309A= (n.787+3309A=) c.1736A= (p.Asn579=) | |
8 | g.54625597A>C | CA370991345 | RP1 | c.1715A>C (p.Asn572Thr) c.787+3309A>C (n.787+3309A>C) c.1736A>C (p.Asn579Thr) | |
8 | g.54625597A>G | CA370991346 | RP1 | c.1715A>G (p.Asn572Ser) c.787+3309A>G (n.787+3309A>G) c.1736A>G (p.Asn579Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54625597A>T | CA370991348 | RP1 | c.1715A>T (p.Asn572Ile) c.787+3309A>T (n.787+3309A>T) c.1736A>T (p.Asn579Ile) | |
8 | g.54625598T>A | CA370991349 | RP1 | c.1716T>A (p.Asn572Lys) c.787+3310T>A (n.787+3310T>A) c.1737T>A (p.Asn579Lys) | |
8 | g.54625598T>C | CA461098379 | RP1 | c.1716T>C (p.Asn572=) c.787+3310T>C (n.787+3310T>C) c.1737T>C (p.Asn579=) | |
8 | g.54625598T>G | CA370991351 | RP1 | c.1716T>G (p.Asn572Lys) c.787+3310T>G (n.787+3310T>G) c.1737T>G (p.Asn579Lys) | |
8 | g.54625598_54625603delinsTAACTC | CA1785187966 | RP1 | c.1716_1721delinsTAACTC (p.Asn572=) c.787+3310_787+3315delinsTAACTC (n.787+3310_787+3315delinsTAACTC) c.1737_1742delinsTAACTC (p.Asn579=) | |
8 | g.54625599A>C | CA370991356 | RP1 | c.1717A>C (p.Asn573His) c.787+3311A>C (n.787+3311A>C) c.1738A>C (p.Asn580His) | |
8 | g.54625599A>G | CA370991355 | RP1 | c.1717A>G (p.Asn573Asp) c.787+3311A>G (n.787+3311A>G) c.1738A>G (p.Asn580Asp) | |
8 | g.54625599A>T | CA370991353 | RP1 | c.1717A>T (p.Asn573Tyr) c.787+3311A>T (n.787+3311A>T) c.1738A>T (p.Asn580Tyr) | |
8 | g.54625601_54625605del | CA236463 | RP1 | c.1719_1723del (p.Ser574CysfsTer7) c.787+3313_787+3317del (n.787+3313_787+3317del) c.1740_1744del (p.Ser581CysfsTer7) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625600A>C | CA370991357 | RP1 | c.1718A>C (p.Asn573Thr) c.787+3312A>C (n.787+3312A>C) c.1739A>C (p.Asn580Thr) | |
8 | g.54625600A>G | CA370991358 | RP1 | c.1718A>G (p.Asn573Ser) c.787+3312A>G (n.787+3312A>G) c.1739A>G (p.Asn580Ser) | |
8 | g.54625600A>T | CA370991359 | RP1 | c.1718A>T (p.Asn573Ile) c.787+3312A>T (n.787+3312A>T) c.1739A>T (p.Asn580Ile) | |
8 | g.54625601C>A | CA370991361 | RP1 | c.1719C>A (p.Asn573Lys) c.787+3313C>A (n.787+3313C>A) c.1740C>A (p.Asn580Lys) | |
8 | g.54625601C= | CA1785187967 | RP1 | c.1719C= (p.Asn573=) c.787+3313C= (n.787+3313C=) c.1740C= (p.Asn580=) | |
8 | g.54625601C>G | CA370991363 | RP1 | c.1719C>G (p.Asn573Lys) c.787+3313C>G (n.787+3313C>G) c.1740C>G (p.Asn580Lys) | |
8 | g.54625601C>T | CA461098380 | RP1 | c.1719C>T (p.Asn573=) c.787+3313C>T (n.787+3313C>T) c.1740C>T (p.Asn580=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54625602_54625603del | CA461098381 | RP1 | c.1720_1721del (p.Ser574AsnfsTer8) c.787+3314_787+3315del (n.787+3314_787+3315del) c.1741_1742del (p.Ser581AsnfsTer8) | ClinVar dbSNP |
8 | g.54625602T>A | CA370991365 | RP1 | c.1720T>A (p.Ser574Thr) c.787+3314T>A (n.787+3314T>A) c.1741T>A (p.Ser581Thr) | |
8 | g.54625602T>C | CA370991366 | RP1 | c.1720T>C (p.Ser574Pro) c.787+3314T>C (n.787+3314T>C) c.1741T>C (p.Ser581Pro) | |
8 | g.54625602T>G | CA370991368 | RP1 | c.1720T>G (p.Ser574Ala) c.787+3314T>G (n.787+3314T>G) c.1741T>G (p.Ser581Ala) | |
8 | g.54625603C>A | CA370991370 | RP1 | c.1721C>A (p.Ser574Ter) c.787+3315C>A (n.787+3315C>A) c.1742C>A (p.Ser581Ter) | |
8 | g.54625603C= | CA1785187968 | RP1 | c.1721C= (p.Ser574=) c.787+3315C= (n.787+3315C=) c.1742C= (p.Ser581=) | |
8 | g.54625603C>G | CA370991372 | RP1 | c.1721C>G (p.Ser574Ter) c.787+3315C>G (n.787+3315C>G) c.1742C>G (p.Ser581Ter) | ClinVar dbSNP |
8 | g.54625603C>T | CA370991373 | RP1 | c.1721C>T (p.Ser574Leu) c.787+3315C>T (n.787+3315C>T) c.1742C>T (p.Ser581Leu) | dbSNP |