Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.54153256_54153257delinsTC | CA1910916131 | PCDH15 | c.1663_1664delinsGA (p.Glu555=) c.1627_1628delinsGA (p.Glu543=) c.1648_1649delinsGA (p.Glu550=) c.486_487delinsGA c.1642_1643delinsGA (p.Glu548=) c.1516_1517delinsGA (p.Glu506=) c.1561_1562delinsGA (p.Glu521=) c.1305+42426_1305+42427delinsGA (n.1305+42426_1305+42427delinsGA) c.1098+60679_1098+60680delinsGA (n.1098+60679_1098+60680delinsGA) c.460_461delinsGA (p.Glu154=) c.876+164014_876+164015delinsGA (n.876+164014_876+164015delinsGA) c.-24-295994_-24-295993delinsGA (n.-24-295994_-24-295993delinsGA) n.2640_2641delinsGA | |
10 | g.54153257C>A | CA376519802 | PCDH15 | c.1663G>T (p.Glu555Ter) c.1627G>T (p.Glu543Ter) c.1648G>T (p.Glu550Ter) c.486G>T c.1642G>T (p.Glu548Ter) c.1516G>T (p.Glu506Ter) c.1561G>T (p.Glu521Ter) c.1305+42426G>T (n.1305+42426G>T) c.1098+60679G>T (n.1098+60679G>T) c.460G>T (p.Glu154Ter) c.876+164014G>T (n.876+164014G>T) c.-24-295994G>T (n.-24-295994G>T) n.2640G>T | |
10 | g.54153257C= | CA1910916142 | PCDH15 | c.1663G= (p.Glu555=) c.1627G= (p.Glu543=) c.1648G= (p.Glu550=) c.486G= c.1642G= (p.Glu548=) c.1516G= (p.Glu506=) c.1561G= (p.Glu521=) c.1305+42426G= (n.1305+42426G=) c.1098+60679G= (n.1098+60679G=) c.460G= (p.Glu154=) c.876+164014G= (n.876+164014G=) c.-24-295994G= (n.-24-295994G=) n.2640G= | |
10 | g.54153257C>G | CA376519798 | PCDH15 | c.1663G>C (p.Glu555Gln) c.1627G>C (p.Glu543Gln) c.1648G>C (p.Glu550Gln) c.486G>C c.1642G>C (p.Glu548Gln) c.1516G>C (p.Glu506Gln) c.1561G>C (p.Glu521Gln) c.1305+42426G>C (n.1305+42426G>C) c.1098+60679G>C (n.1098+60679G>C) c.460G>C (p.Glu154Gln) c.876+164014G>C (n.876+164014G>C) c.-24-295994G>C (n.-24-295994G>C) n.2640G>C | |
10 | g.54153257C>T | CA5506306 | PCDH15 | c.1663G>A (p.Glu555Lys) c.1627G>A (p.Glu543Lys) c.1648G>A (p.Glu550Lys) c.486G>A c.1642G>A (p.Glu548Lys) c.1516G>A (p.Glu506Lys) c.1561G>A (p.Glu521Lys) c.1305+42426G>A (n.1305+42426G>A) c.1098+60679G>A (n.1098+60679G>A) c.460G>A (p.Glu154Lys) c.876+164014G>A (n.876+164014G>A) c.-24-295994G>A (n.-24-295994G>A) n.2640G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
10 | g.54153260del | CA16041374 | PCDH15 | c.1663del (p.Glu555ArgfsTer?) c.1627del (p.Glu543ArgfsTer?) c.1648del (p.Glu550ArgfsTer?) c.486del c.1642del (p.Glu548ArgfsTer?) c.1516del (p.Glu506ArgfsTer?) c.1561del (p.Glu521ArgfsTer?) c.1305+42426del (n.1305+42426del) c.1098+60679del (n.1098+60679del) c.460del (p.Glu154ArgfsTer?) c.876+164014del (n.876+164014del) c.-24-295994del (n.-24-295994del) n.2640del | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.54153258C>A | CA469494526 | PCDH15 | c.1662G>T (p.Gly554=) c.1626G>T (p.Gly542=) c.1647G>T (p.Gly549=) c.485G>T c.1641G>T (p.Gly547=) c.1515G>T (p.Gly505=) c.1560G>T (p.Gly520=) c.1305+42425G>T (n.1305+42425G>T) c.1098+60678G>T (n.1098+60678G>T) c.459G>T (p.Gly153=) c.876+164013G>T (n.876+164013G>T) c.-24-295995G>T (n.-24-295995G>T) n.2639G>T | |
10 | g.54153258C= | CA1910916151 | PCDH15 | c.1662G= (p.Gly554=) c.1626G= (p.Gly542=) c.1647G= (p.Gly549=) c.485G= c.1641G= (p.Gly547=) c.1515G= (p.Gly505=) c.1560G= (p.Gly520=) c.1305+42425G= (n.1305+42425G=) c.1098+60678G= (n.1098+60678G=) c.459G= (p.Gly153=) c.876+164013G= (n.876+164013G=) c.-24-295995G= (n.-24-295995G=) n.2639G= | |
10 | g.54153258C>G | CA469494528 | PCDH15 | c.1662G>C (p.Gly554=) c.1626G>C (p.Gly542=) c.1647G>C (p.Gly549=) c.485G>C c.1641G>C (p.Gly547=) c.1515G>C (p.Gly505=) c.1560G>C (p.Gly520=) c.1305+42425G>C (n.1305+42425G>C) c.1098+60678G>C (n.1098+60678G>C) c.459G>C (p.Gly153=) c.876+164013G>C (n.876+164013G>C) c.-24-295995G>C (n.-24-295995G>C) n.2639G>C | |
10 | g.54153258C>T | CA5506307 | PCDH15 | c.1662G>A (p.Gly554=) c.1626G>A (p.Gly542=) c.1647G>A (p.Gly549=) c.485G>A c.1641G>A (p.Gly547=) c.1515G>A (p.Gly505=) c.1560G>A (p.Gly520=) c.1305+42425G>A (n.1305+42425G>A) c.1098+60678G>A (n.1098+60678G>A) c.459G>A (p.Gly153=) c.876+164013G>A (n.876+164013G>A) c.-24-295995G>A (n.-24-295995G>A) n.2639G>A | ClinVar dbSNP ExAC gnomAD v4 |
10 | g.54153259C>A | CA376519807 | PCDH15 | c.1661G>T (p.Gly554Val) c.1625G>T (p.Gly542Val) c.1646G>T (p.Gly549Val) c.484G>T c.1640G>T (p.Gly547Val) c.1514G>T (p.Gly505Val) c.1559G>T (p.Gly520Val) c.1305+42424G>T (n.1305+42424G>T) c.1098+60677G>T (n.1098+60677G>T) c.458G>T (p.Gly153Val) c.876+164012G>T (n.876+164012G>T) c.-24-295996G>T (n.-24-295996G>T) n.2638G>T | COSMIC COSMIC COSMIC COSMIC |
10 | g.54153259C= | CA1910916153 | PCDH15 | c.1661G= (p.Gly554=) c.1625G= (p.Gly542=) c.1646G= (p.Gly549=) c.484G= c.1640G= (p.Gly547=) c.1514G= (p.Gly505=) c.1559G= (p.Gly520=) c.1305+42424G= (n.1305+42424G=) c.1098+60677G= (n.1098+60677G=) c.458G= (p.Gly153=) c.876+164012G= (n.876+164012G=) c.-24-295996G= (n.-24-295996G=) n.2638G= | |
10 | g.54153259C>G | CA5506308 | PCDH15 | c.1661G>C (p.Gly554Ala) c.1625G>C (p.Gly542Ala) c.1646G>C (p.Gly549Ala) c.484G>C c.1640G>C (p.Gly547Ala) c.1514G>C (p.Gly505Ala) c.1559G>C (p.Gly520Ala) c.1305+42424G>C (n.1305+42424G>C) c.1098+60677G>C (n.1098+60677G>C) c.458G>C (p.Gly153Ala) c.876+164012G>C (n.876+164012G>C) c.-24-295996G>C (n.-24-295996G>C) n.2638G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.54153259C>T | CA376519811 | PCDH15 | c.1661G>A (p.Gly554Glu) c.1625G>A (p.Gly542Glu) c.1646G>A (p.Gly549Glu) c.484G>A c.1640G>A (p.Gly547Glu) c.1514G>A (p.Gly505Glu) c.1559G>A (p.Gly520Glu) c.1305+42424G>A (n.1305+42424G>A) c.1098+60677G>A (n.1098+60677G>A) c.458G>A (p.Gly153Glu) c.876+164012G>A (n.876+164012G>A) c.-24-295996G>A (n.-24-295996G>A) n.2638G>A | gnomAD v4 |
10 | g.54153260C>A | CA376519813 | PCDH15 | c.1660G>T (p.Gly554Trp) c.1624G>T (p.Gly542Trp) c.1645G>T (p.Gly549Trp) c.483G>T c.1639G>T (p.Gly547Trp) c.1513G>T (p.Gly505Trp) c.1558G>T (p.Gly520Trp) c.1305+42423G>T (n.1305+42423G>T) c.1098+60676G>T (n.1098+60676G>T) c.457G>T (p.Gly153Trp) c.876+164011G>T (n.876+164011G>T) c.-24-295997G>T (n.-24-295997G>T) n.2637G>T | COSMIC COSMIC COSMIC COSMIC |
10 | g.54153260C= | CA1910916161 | PCDH15 | c.1660G= (p.Gly554=) c.1624G= (p.Gly542=) c.1645G= (p.Gly549=) c.483G= c.1639G= (p.Gly547=) c.1513G= (p.Gly505=) c.1558G= (p.Gly520=) c.1305+42423G= (n.1305+42423G=) c.1098+60676G= (n.1098+60676G=) c.457G= (p.Gly153=) c.876+164011G= (n.876+164011G=) c.-24-295997G= (n.-24-295997G=) n.2637G= | |
10 | g.54153260C>G | CA376519815 | PCDH15 | c.1660G>C (p.Gly554Arg) c.1624G>C (p.Gly542Arg) c.1645G>C (p.Gly549Arg) c.483G>C c.1639G>C (p.Gly547Arg) c.1513G>C (p.Gly505Arg) c.1558G>C (p.Gly520Arg) c.1305+42423G>C (n.1305+42423G>C) c.1098+60676G>C (n.1098+60676G>C) c.457G>C (p.Gly153Arg) c.876+164011G>C (n.876+164011G>C) c.-24-295997G>C (n.-24-295997G>C) n.2637G>C | |
10 | g.54153260C>T | CA5506309 | PCDH15 | c.1660G>A (p.Gly554Arg) c.1624G>A (p.Gly542Arg) c.1645G>A (p.Gly549Arg) c.483G>A c.1639G>A (p.Gly547Arg) c.1513G>A (p.Gly505Arg) c.1558G>A (p.Gly520Arg) c.1305+42423G>A (n.1305+42423G>A) c.1098+60676G>A (n.1098+60676G>A) c.457G>A (p.Gly153Arg) c.876+164011G>A (n.876+164011G>A) c.-24-295997G>A (n.-24-295997G>A) n.2637G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.54153261A= | CA1910916166 | PCDH15 | c.1659T= (p.Asn553=) c.1623T= (p.Asn541=) c.1644T= (p.Asn548=) c.482T= c.1638T= (p.Asn546=) c.1512T= (p.Asn504=) c.1557T= (p.Asn519=) c.1305+42422T= (n.1305+42422T=) c.1098+60675T= (n.1098+60675T=) c.456T= (p.Asn152=) c.876+164010T= (n.876+164010T=) c.-24-295998T= (n.-24-295998T=) n.2636T= | |
10 | g.54153261A>C | CA376519819 | PCDH15 | c.1659T>G (p.Asn553Lys) c.1623T>G (p.Asn541Lys) c.1644T>G (p.Asn548Lys) c.482T>G c.1638T>G (p.Asn546Lys) c.1512T>G (p.Asn504Lys) c.1557T>G (p.Asn519Lys) c.1305+42422T>G (n.1305+42422T>G) c.1098+60675T>G (n.1098+60675T>G) c.456T>G (p.Asn152Lys) c.876+164010T>G (n.876+164010T>G) c.-24-295998T>G (n.-24-295998T>G) n.2636T>G | |
10 | g.54153261A>G | CA469494531 | PCDH15 | c.1659T>C (p.Asn553=) c.1623T>C (p.Asn541=) c.1644T>C (p.Asn548=) c.482T>C c.1638T>C (p.Asn546=) c.1512T>C (p.Asn504=) c.1557T>C (p.Asn519=) c.1305+42422T>C (n.1305+42422T>C) c.1098+60675T>C (n.1098+60675T>C) c.456T>C (p.Asn152=) c.876+164010T>C (n.876+164010T>C) c.-24-295998T>C (n.-24-295998T>C) n.2636T>C | ClinVar |
10 | g.54153261A>T | CA5506310 | PCDH15 | c.1659T>A (p.Asn553Lys) c.1623T>A (p.Asn541Lys) c.1644T>A (p.Asn548Lys) c.482T>A c.1638T>A (p.Asn546Lys) c.1512T>A (p.Asn504Lys) c.1557T>A (p.Asn519Lys) c.1305+42422T>A (n.1305+42422T>A) c.1098+60675T>A (n.1098+60675T>A) c.456T>A (p.Asn152Lys) c.876+164010T>A (n.876+164010T>A) c.-24-295998T>A (n.-24-295998T>A) n.2636T>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
10 | g.54153262T>A | CA376519822 | PCDH15 | c.1658A>T (p.Asn553Ile) c.1622A>T (p.Asn541Ile) c.1643A>T (p.Asn548Ile) c.481A>T c.1637A>T (p.Asn546Ile) c.1511A>T (p.Asn504Ile) c.1556A>T (p.Asn519Ile) c.1305+42421A>T (n.1305+42421A>T) c.1098+60674A>T (n.1098+60674A>T) c.455A>T (p.Asn152Ile) c.876+164009A>T (n.876+164009A>T) c.-24-295999A>T (n.-24-295999A>T) n.2635A>T | |
10 | g.54153262T>C | CA376519828 | PCDH15 | c.1658A>G (p.Asn553Ser) c.1622A>G (p.Asn541Ser) c.1643A>G (p.Asn548Ser) c.481A>G c.1637A>G (p.Asn546Ser) c.1511A>G (p.Asn504Ser) c.1556A>G (p.Asn519Ser) c.1305+42421A>G (n.1305+42421A>G) c.1098+60674A>G (n.1098+60674A>G) c.455A>G (p.Asn152Ser) c.876+164009A>G (n.876+164009A>G) c.-24-295999A>G (n.-24-295999A>G) n.2635A>G | gnomAD v4 |
10 | g.54153262T>G | CA376519838 | PCDH15 | c.1658A>C (p.Asn553Thr) c.1622A>C (p.Asn541Thr) c.1643A>C (p.Asn548Thr) c.481A>C c.1637A>C (p.Asn546Thr) c.1511A>C (p.Asn504Thr) c.1556A>C (p.Asn519Thr) c.1305+42421A>C (n.1305+42421A>C) c.1098+60674A>C (n.1098+60674A>C) c.455A>C (p.Asn152Thr) c.876+164009A>C (n.876+164009A>C) c.-24-295999A>C (n.-24-295999A>C) n.2635A>C | dbSNP gnomAD v2 gnomAD v4 |
10 | g.54153262T= | CA1910916172 | PCDH15 | c.1658A= (p.Asn553=) c.1622A= (p.Asn541=) c.1643A= (p.Asn548=) c.481A= c.1637A= (p.Asn546=) c.1511A= (p.Asn504=) c.1556A= (p.Asn519=) c.1305+42421A= (n.1305+42421A=) c.1098+60674A= (n.1098+60674A=) c.455A= (p.Asn152=) c.876+164009A= (n.876+164009A=) c.-24-295999A= (n.-24-295999A=) n.2635A= | |
10 | g.54153263T>A | CA376519846 | PCDH15 | c.1657A>T (p.Asn553Tyr) c.1621A>T (p.Asn541Tyr) c.1642A>T (p.Asn548Tyr) c.480A>T c.1636A>T (p.Asn546Tyr) c.1510A>T (p.Asn504Tyr) c.1555A>T (p.Asn519Tyr) c.1305+42420A>T (n.1305+42420A>T) c.1098+60673A>T (n.1098+60673A>T) c.454A>T (p.Asn152Tyr) c.876+164008A>T (n.876+164008A>T) c.-24-296000A>T (n.-24-296000A>T) n.2634A>T | |
10 | g.54153263T>C | CA376519849 | PCDH15 | c.1657A>G (p.Asn553Asp) c.1621A>G (p.Asn541Asp) c.1642A>G (p.Asn548Asp) c.480A>G c.1636A>G (p.Asn546Asp) c.1510A>G (p.Asn504Asp) c.1555A>G (p.Asn519Asp) c.1305+42420A>G (n.1305+42420A>G) c.1098+60673A>G (n.1098+60673A>G) c.454A>G (p.Asn152Asp) c.876+164008A>G (n.876+164008A>G) c.-24-296000A>G (n.-24-296000A>G) n.2634A>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.54153263T>G | CA207217367 | PCDH15 | c.1657A>C (p.Asn553His) c.1621A>C (p.Asn541His) c.1642A>C (p.Asn548His) c.480A>C c.1636A>C (p.Asn546His) c.1510A>C (p.Asn504His) c.1555A>C (p.Asn519His) c.1305+42420A>C (n.1305+42420A>C) c.1098+60673A>C (n.1098+60673A>C) c.454A>C (p.Asn152His) c.876+164008A>C (n.876+164008A>C) c.-24-296000A>C (n.-24-296000A>C) n.2634A>C | dbSNP gnomAD v2 gnomAD v4 |
10 | g.54153263T= | CA1910916177 | PCDH15 | c.1657A= (p.Asn553=) c.1621A= (p.Asn541=) c.1642A= (p.Asn548=) c.480A= c.1636A= (p.Asn546=) c.1510A= (p.Asn504=) c.1555A= (p.Asn519=) c.1305+42420A= (n.1305+42420A=) c.1098+60673A= (n.1098+60673A=) c.454A= (p.Asn152=) c.876+164008A= (n.876+164008A=) c.-24-296000A= (n.-24-296000A=) n.2634A= | |
10 | g.54153264T>A | CA469494541 | PCDH15 | c.1656A>T (p.Ser552=) c.1620A>T (p.Ser540=) c.1641A>T (p.Ser547=) c.479A>T c.1635A>T (p.Ser545=) c.1509A>T (p.Ser503=) c.1554A>T (p.Ser518=) c.1305+42419A>T (n.1305+42419A>T) c.1098+60672A>T (n.1098+60672A>T) c.453A>T (p.Ser151=) c.876+164007A>T (n.876+164007A>T) c.-24-296001A>T (n.-24-296001A>T) n.2633A>T | |
10 | g.54153264T>C | CA469494543 | PCDH15 | c.1656A>G (p.Ser552=) c.1620A>G (p.Ser540=) c.1641A>G (p.Ser547=) c.479A>G c.1635A>G (p.Ser545=) c.1509A>G (p.Ser503=) c.1554A>G (p.Ser518=) c.1305+42419A>G (n.1305+42419A>G) c.1098+60672A>G (n.1098+60672A>G) c.453A>G (p.Ser151=) c.876+164007A>G (n.876+164007A>G) c.-24-296001A>G (n.-24-296001A>G) n.2633A>G | gnomAD v4 |
10 | g.54153264T>G | CA469494544 | PCDH15 | c.1656A>C (p.Ser552=) c.1620A>C (p.Ser540=) c.1641A>C (p.Ser547=) c.479A>C c.1635A>C (p.Ser545=) c.1509A>C (p.Ser503=) c.1554A>C (p.Ser518=) c.1305+42419A>C (n.1305+42419A>C) c.1098+60672A>C (n.1098+60672A>C) c.453A>C (p.Ser151=) c.876+164007A>C (n.876+164007A>C) c.-24-296001A>C (n.-24-296001A>C) n.2633A>C | |
10 | g.54153265G>A | CA376519853 | PCDH15 | c.1655C>T (p.Ser552Leu) c.1619C>T (p.Ser540Leu) c.1640C>T (p.Ser547Leu) c.478C>T c.1634C>T (p.Ser545Leu) c.1508C>T (p.Ser503Leu) c.1553C>T (p.Ser518Leu) c.1305+42418C>T (n.1305+42418C>T) c.1098+60671C>T (n.1098+60671C>T) c.452C>T (p.Ser151Leu) c.876+164006C>T (n.876+164006C>T) c.-24-296002C>T (n.-24-296002C>T) n.2632C>T | dbSNP |
10 | g.54153265G>C | CA376519865 | PCDH15 | c.1655C>G (p.Ser552Ter) c.1619C>G (p.Ser540Ter) c.1640C>G (p.Ser547Ter) c.478C>G c.1634C>G (p.Ser545Ter) c.1508C>G (p.Ser503Ter) c.1553C>G (p.Ser518Ter) c.1305+42418C>G (n.1305+42418C>G) c.1098+60671C>G (n.1098+60671C>G) c.452C>G (p.Ser151Ter) c.876+164006C>G (n.876+164006C>G) c.-24-296002C>G (n.-24-296002C>G) n.2632C>G | |
10 | g.54153265G= | CA1910916181 | PCDH15 | c.1655C= (p.Ser552=) c.1619C= (p.Ser540=) c.1640C= (p.Ser547=) c.478C= c.1634C= (p.Ser545=) c.1508C= (p.Ser503=) c.1553C= (p.Ser518=) c.1305+42418C= (n.1305+42418C=) c.1098+60671C= (n.1098+60671C=) c.452C= (p.Ser151=) c.876+164006C= (n.876+164006C=) c.-24-296002C= (n.-24-296002C=) n.2632C= | |
10 | g.54153265G>T | CA376519854 | PCDH15 | c.1655C>A (p.Ser552Ter) c.1619C>A (p.Ser540Ter) c.1640C>A (p.Ser547Ter) c.478C>A c.1634C>A (p.Ser545Ter) c.1508C>A (p.Ser503Ter) c.1553C>A (p.Ser518Ter) c.1305+42418C>A (n.1305+42418C>A) c.1098+60671C>A (n.1098+60671C>A) c.452C>A (p.Ser151Ter) c.876+164006C>A (n.876+164006C>A) c.-24-296002C>A (n.-24-296002C>A) n.2632C>A | dbSNP |
10 | g.54153266A= | CA1910916183 | PCDH15 | c.1654T= (p.Ser552=) c.1618T= (p.Ser540=) c.1639T= (p.Ser547=) c.477T= c.1633T= (p.Ser545=) c.1507T= (p.Ser503=) c.1552T= (p.Ser518=) c.1305+42417T= (n.1305+42417T=) c.1098+60670T= (n.1098+60670T=) c.451T= (p.Ser151=) c.876+164005T= (n.876+164005T=) c.-24-296003T= (n.-24-296003T=) n.2631T= | |
10 | g.54153266A>C | CA376519869 | PCDH15 | c.1654T>G (p.Ser552Ala) c.1618T>G (p.Ser540Ala) c.1639T>G (p.Ser547Ala) c.477T>G c.1633T>G (p.Ser545Ala) c.1507T>G (p.Ser503Ala) c.1552T>G (p.Ser518Ala) c.1305+42417T>G (n.1305+42417T>G) c.1098+60670T>G (n.1098+60670T>G) c.451T>G (p.Ser151Ala) c.876+164005T>G (n.876+164005T>G) c.-24-296003T>G (n.-24-296003T>G) n.2631T>G | dbSNP |
10 | g.54153266A>G | CA376519874 | PCDH15 | c.1654T>C (p.Ser552Pro) c.1618T>C (p.Ser540Pro) c.1639T>C (p.Ser547Pro) c.477T>C c.1633T>C (p.Ser545Pro) c.1507T>C (p.Ser503Pro) c.1552T>C (p.Ser518Pro) c.1305+42417T>C (n.1305+42417T>C) c.1098+60670T>C (n.1098+60670T>C) c.451T>C (p.Ser151Pro) c.876+164005T>C (n.876+164005T>C) c.-24-296003T>C (n.-24-296003T>C) n.2631T>C | |
10 | g.54153266A>T | CA376519870 | PCDH15 | c.1654T>A (p.Ser552Thr) c.1618T>A (p.Ser540Thr) c.1639T>A (p.Ser547Thr) c.477T>A c.1633T>A (p.Ser545Thr) c.1507T>A (p.Ser503Thr) c.1552T>A (p.Ser518Thr) c.1305+42417T>A (n.1305+42417T>A) c.1098+60670T>A (n.1098+60670T>A) c.451T>A (p.Ser151Thr) c.876+164005T>A (n.876+164005T>A) c.-24-296003T>A (n.-24-296003T>A) n.2631T>A | gnomAD v4 |
10 | g.54153267C>A | CA469494550 | PCDH15 | c.1653G>T (p.Gly551=) c.1617G>T (p.Gly539=) c.1638G>T (p.Gly546=) c.476G>T c.1632G>T (p.Gly544=) c.1506G>T (p.Gly502=) c.1551G>T (p.Gly517=) c.1305+42416G>T (n.1305+42416G>T) c.1098+60669G>T (n.1098+60669G>T) c.450G>T (p.Gly150=) c.876+164004G>T (n.876+164004G>T) c.-24-296004G>T (n.-24-296004G>T) n.2630G>T | |
10 | g.54153267C>G | CA469494553 | PCDH15 | c.1653G>C (p.Gly551=) c.1617G>C (p.Gly539=) c.1638G>C (p.Gly546=) c.476G>C c.1632G>C (p.Gly544=) c.1506G>C (p.Gly502=) c.1551G>C (p.Gly517=) c.1305+42416G>C (n.1305+42416G>C) c.1098+60669G>C (n.1098+60669G>C) c.450G>C (p.Gly150=) c.876+164004G>C (n.876+164004G>C) c.-24-296004G>C (n.-24-296004G>C) n.2630G>C | |
10 | g.54153267C>T | CA469494552 | PCDH15 | c.1653G>A (p.Gly551=) c.1617G>A (p.Gly539=) c.1638G>A (p.Gly546=) c.476G>A c.1632G>A (p.Gly544=) c.1506G>A (p.Gly502=) c.1551G>A (p.Gly517=) c.1305+42416G>A (n.1305+42416G>A) c.1098+60669G>A (n.1098+60669G>A) c.450G>A (p.Gly150=) c.876+164004G>A (n.876+164004G>A) c.-24-296004G>A (n.-24-296004G>A) n.2630G>A | |
10 | g.54153268C>A | CA376519875 | PCDH15 | c.1652G>T (p.Gly551Val) c.1616G>T (p.Gly539Val) c.1637G>T (p.Gly546Val) c.475G>T c.1631G>T (p.Gly544Val) c.1505G>T (p.Gly502Val) c.1550G>T (p.Gly517Val) c.1305+42415G>T (n.1305+42415G>T) c.1098+60668G>T (n.1098+60668G>T) c.449G>T (p.Gly150Val) c.876+164003G>T (n.876+164003G>T) c.-24-296005G>T (n.-24-296005G>T) n.2629G>T | |
10 | g.54153268C>G | CA376519878 | PCDH15 | c.1652G>C (p.Gly551Ala) c.1616G>C (p.Gly539Ala) c.1637G>C (p.Gly546Ala) c.475G>C c.1631G>C (p.Gly544Ala) c.1505G>C (p.Gly502Ala) c.1550G>C (p.Gly517Ala) c.1305+42415G>C (n.1305+42415G>C) c.1098+60668G>C (n.1098+60668G>C) c.449G>C (p.Gly150Ala) c.876+164003G>C (n.876+164003G>C) c.-24-296005G>C (n.-24-296005G>C) n.2629G>C | |
10 | g.54153268C>T | CA376519882 | PCDH15 | c.1652G>A (p.Gly551Glu) c.1616G>A (p.Gly539Glu) c.1637G>A (p.Gly546Glu) c.475G>A c.1631G>A (p.Gly544Glu) c.1505G>A (p.Gly502Glu) c.1550G>A (p.Gly517Glu) c.1305+42415G>A (n.1305+42415G>A) c.1098+60668G>A (n.1098+60668G>A) c.449G>A (p.Gly150Glu) c.876+164003G>A (n.876+164003G>A) c.-24-296005G>A (n.-24-296005G>A) n.2629G>A | |
10 | g.54153269C>A | CA5506311 | PCDH15 | c.1651G>T (p.Gly551Trp) c.1615G>T (p.Gly539Trp) c.1636G>T (p.Gly546Trp) c.474G>T c.1630G>T (p.Gly544Trp) c.1504G>T (p.Gly502Trp) c.1549G>T (p.Gly517Trp) c.1305+42414G>T (n.1305+42414G>T) c.1098+60667G>T (n.1098+60667G>T) c.448G>T (p.Gly150Trp) c.876+164002G>T (n.876+164002G>T) c.-24-296006G>T (n.-24-296006G>T) n.2628G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.54153269C= | CA1910916185 | PCDH15 | c.1651G= (p.Gly551=) c.1615G= (p.Gly539=) c.1636G= (p.Gly546=) c.474G= c.1630G= (p.Gly544=) c.1504G= (p.Gly502=) c.1549G= (p.Gly517=) c.1305+42414G= (n.1305+42414G=) c.1098+60667G= (n.1098+60667G=) c.448G= (p.Gly150=) c.876+164002G= (n.876+164002G=) c.-24-296006G= (n.-24-296006G=) n.2628G= | |
10 | g.54153269C>G | CA376519886 | PCDH15 | c.1651G>C (p.Gly551Arg) c.1615G>C (p.Gly539Arg) c.1636G>C (p.Gly546Arg) c.474G>C c.1630G>C (p.Gly544Arg) c.1504G>C (p.Gly502Arg) c.1549G>C (p.Gly517Arg) c.1305+42414G>C (n.1305+42414G>C) c.1098+60667G>C (n.1098+60667G>C) c.448G>C (p.Gly150Arg) c.876+164002G>C (n.876+164002G>C) c.-24-296006G>C (n.-24-296006G>C) n.2628G>C | ClinVar |