UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.100399186_100406943del | CA891843591 | PCDH19 | c.1657_2475+3340del c.1657_2616+3340del | ClinVar |
| X | g.100406541_100407019delinsGCAGAGA | CA2580100061 | PCDH19 | c.1579_2057delinsTCTCTGC (p.Lys527SerfsTer11) | ClinVar |
| X | g.100406816G>A | CA517747380 | PCDH19 | c.1782C>T (p.Asp594=) | |
| X | g.100406816G>C | CA414001988 | PCDH19 | c.1782C>G (p.Asp594Glu) | |
| X | g.100406816G>T | CA414001989 | PCDH19 | c.1782C>A (p.Asp594Glu) | |
| X | g.100406817T>A | CA414001990 | PCDH19 | c.1781A>T (p.Asp594Val) | |
| X | g.100406817T>C | CA414001991 | PCDH19 | c.1781A>G (p.Asp594Gly) | |
| X | g.100406817T>G | CA414001992 | PCDH19 | c.1781A>C (p.Asp594Ala) | |
| X | g.100406818C>A | CA414001995 | PCDH19 | c.1780G>T (p.Asp594Tyr) | |
| X | g.100406818C>G | CA414001994 | PCDH19 | c.1780G>C (p.Asp594His) | |
| X | g.100406818C>T | CA414001993 | PCDH19 | c.1780G>A (p.Asp594Asn) | COSMIC COSMIC |
| X | g.100406819T>A | CA414001996 | PCDH19 | c.1779A>T (p.Glu593Asp) | |
| X | g.100406819T>C | CA517747385 | PCDH19 | c.1779A>G (p.Glu593=) | |
| X | g.100406819T>G | CA414001997 | PCDH19 | c.1779A>C (p.Glu593Asp) | |
| X | g.100406820T>A | CA414001998 | PCDH19 | c.1778A>T (p.Glu593Val) | |
| X | g.100406820T>C | CA414001999 | PCDH19 | c.1778A>G (p.Glu593Gly) | |
| X | g.100406820T>G | CA414002000 | PCDH19 | c.1778A>C (p.Glu593Ala) | |
| X | g.100406821C>A | CA414002001 | PCDH19 | c.1777G>T (p.Glu593Ter) | |
| X | g.100406821C>G | CA414002002 | PCDH19 | c.1777G>C (p.Glu593Gln) | |
| X | g.100406821C>T | CA414002003 | PCDH19 | c.1777G>A (p.Glu593Lys) | |
| X | g.100406822T>A | CA517747390 | PCDH19 | c.1776A>T (p.Ala592=) | ClinVar dbSNP |
| X | g.100406822T>C | CA517747392 | PCDH19 | c.1776A>G (p.Ala592=) | |
| X | g.100406822T>G | CA517747394 | PCDH19 | c.1776A>C (p.Ala592=) | |
| X | g.100406823G>A | CA414002004 | PCDH19 | c.1775C>T (p.Ala592Val) | |
| X | g.100406823G>C | CA414002005 | PCDH19 | c.1775C>G (p.Ala592Gly) | |
| X | g.100406823G>T | CA414002006 | PCDH19 | c.1775C>A (p.Ala592Glu) | |
| X | g.100406824C>A | CA414002007 | PCDH19 | c.1774G>T (p.Ala592Ser) | |
| X | g.100406824C>G | CA414002008 | PCDH19 | c.1774G>C (p.Ala592Pro) | |
| X | g.100406824C>T | CA414002009 | PCDH19 | c.1774G>A (p.Ala592Thr) | |
| X | g.100406825C>A | CA414002010 | PCDH19 | c.1773G>T (p.Lys591Asn) | |
| X | g.100406825C>G | CA414002011 | PCDH19 | c.1773G>C (p.Lys591Asn) | |
| X | g.100406825C>T | CA517747399 | PCDH19 | c.1773G>A (p.Lys591=) | |
| X | g.100406826T>A | CA414002012 | PCDH19 | c.1772A>T (p.Lys591Met) | |
| X | g.100406826T>C | CA414002014 | PCDH19 | c.1772A>G (p.Lys591Arg) | |
| X | g.100406826T>G | CA414002013 | PCDH19 | c.1772A>C (p.Lys591Thr) | |
| X | g.100406827T>A | CA414002015 | PCDH19 | c.1771A>T (p.Lys591Ter) | |
| X | g.100406827T>C | CA414002017 | PCDH19 | c.1771A>G (p.Lys591Glu) | |
| X | g.100406827T>G | CA414002016 | PCDH19 | c.1771A>C (p.Lys591Gln) | |
| X | g.100406828G>A | CA517747406 | PCDH19 | c.1770C>T (p.Val590=) | gnomAD v4 |
| X | g.100406828G>C | CA517747404 | PCDH19 | c.1770C>G (p.Val590=) | gnomAD v4 |
| X | g.100406828G>T | CA517747405 | PCDH19 | c.1770C>A (p.Val590=) | |
| X | g.100406829A= | CA2447976476 | PCDH19 | c.1769T= (p.Val590=) | |
| X | g.100406829A>C | CA414002018 | PCDH19 | c.1769T>G (p.Val590Gly) | gnomAD v4 |
| X | g.100406829A>G | CA414002019 | PCDH19 | c.1769T>C (p.Val590Ala) | dbSNP |
| X | g.100406829A>T | CA414002020 | PCDH19 | c.1769T>A (p.Val590Asp) | |
| X | g.100406830C>A | CA414002021 | PCDH19 | c.1768G>T (p.Val590Phe) | |
| X | g.100406830C>G | CA414002022 | PCDH19 | c.1768G>C (p.Val590Leu) | |
| X | g.100406830C>T | CA414002023 | PCDH19 | c.1768G>A (p.Val590Ile) | ClinVar COSMIC COSMIC |
| X | g.100406831A>C | CA517747411 | PCDH19 | c.1767T>G (p.Val589=) | |
| X | g.100406831A>G | CA517747413 | PCDH19 | c.1767T>C (p.Val589=) | |
| X | g.100406831A>T | CA517747412 | PCDH19 | c.1767T>A (p.Val589=) | |
| X | g.100406832A>C | CA414002024 | PCDH19 | c.1766T>G (p.Val589Gly) | |
| X | g.100406832A>G | CA414002025 | PCDH19 | c.1766T>C (p.Val589Ala) | |
| X | g.100406832A>T | CA414002026 | PCDH19 | c.1766T>A (p.Val589Asp) | |
| X | g.100406833_100406834del | CA2573159036 | PCDH19 | c.1765_1766del (p.Val589CysfsTer8) | ClinVar dbSNP |
| X | g.100406833C>A | CA414002027 | PCDH19 | c.1765G>T (p.Val589Phe) | |
| X | g.100406833C>G | CA414002028 | PCDH19 | c.1765G>C (p.Val589Leu) | |
| X | g.100406833C>T | CA414002029 | PCDH19 | c.1765G>A (p.Val589Ile) | |
| X | g.100406833_100406834insG | CA2695235305 | PCDH19 | c.1764_1765insC (p.Val589ArgfsTer9) | |
| X | g.100406834A>C | CA517747417 | PCDH19 | c.1764T>G (p.Thr588=) | |
| X | g.100406834A>G | CA517747419 | PCDH19 | c.1764T>C (p.Thr588=) | |
| X | g.100406834A>T | CA517747421 | PCDH19 | c.1764T>A (p.Thr588=) | |
| X | g.100406835G>A | CA414002032 | PCDH19 | c.1763C>T (p.Thr588Ile) | |
| X | g.100406835G>C | CA414002030 | PCDH19 | c.1763C>G (p.Thr588Ser) | |
| X | g.100406835G>T | CA414002031 | PCDH19 | c.1763C>A (p.Thr588Asn) | |
| X | g.100406836T>A | CA414002033 | PCDH19 | c.1762A>T (p.Thr588Ser) | |
| X | g.100406836T>C | CA414002034 | PCDH19 | c.1762A>G (p.Thr588Ala) | |
| X | g.100406836T>G | CA414002035 | PCDH19 | c.1762A>C (p.Thr588Pro) | ClinVar dbSNP |
| X | g.100406836_100406837delinsTC | CA2447976477 | PCDH19 | c.1761_1762delinsGA (p.Val587=) | |
| X | g.100406837del | CA2447976478 | PCDH19 | c.1761del (p.Thr588LeufsTer20) | dbSNP |
| X | g.100406837C>A | CA517747424 | PCDH19 | c.1761G>T (p.Val587=) | |
| X | g.100406837C>G | CA517747425 | PCDH19 | c.1761G>C (p.Val587=) | |
| X | g.100406837C>T | CA517747427 | PCDH19 | c.1761G>A (p.Val587=) | |
| X | g.100406838A>C | CA414002036 | PCDH19 | c.1760T>G (p.Val587Gly) | |
| X | g.100406838A>G | CA414002037 | PCDH19 | c.1760T>C (p.Val587Ala) | |
| X | g.100406838A>T | CA414002038 | PCDH19 | c.1760T>A (p.Val587Glu) | |
| X | g.100406838_100406846delinsACCAGGTAG | CA2447976479 | PCDH19 | c.1752_1760delinsCTACCTGGT (p.Gly584=) | |
| X | g.100406839C>A | CA414002039 | PCDH19 | c.1759G>T (p.Val587Leu) | |
| X | g.100406839C>G | CA414002040 | PCDH19 | c.1759G>C (p.Val587Leu) | |
| X | g.100406839C>T | CA414002041 | PCDH19 | c.1759G>A (p.Val587Met) | |
| X | g.100406841_100406848del | CA316406 | PCDH19 | c.1752_1759del (p.Tyr585AspfsTer10) | ClinVar dbSNP |
| X | g.100406840C>A | CA517747434 | PCDH19 | c.1758G>T (p.Leu586=) | |
| X | g.100406840C>G | CA517747435 | PCDH19 | c.1758G>C (p.Leu586=) | |
| X | g.100406840C>T | CA517747436 | PCDH19 | c.1758G>A (p.Leu586=) | |
| X | g.100406841A= | CA2447976480 | PCDH19 | c.1757T= (p.Leu586=) | |
| X | g.100406841A>C | CA414002044 | PCDH19 | c.1757T>G (p.Leu586Arg) | |
| X | g.100406841A>G | CA414002043 | PCDH19 | c.1757T>C (p.Leu586Pro) | |
| X | g.100406841A>T | CA414002042 | PCDH19 | c.1757T>A (p.Leu586Gln) | dbSNP |
| X | g.100406842G>A | CA517747437 | PCDH19 | c.1756C>T (p.Leu586=) | |
| X | g.100406842G>C | CA414002045 | PCDH19 | c.1756C>G (p.Leu586Val) | |
| X | g.100406842G>T | CA414002046 | PCDH19 | c.1756C>A (p.Leu586Met) | |
| X | g.100406843G>A | CA333826061 | PCDH19 | c.1755C>T (p.Tyr585=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100406843G>C | CA414002047 | PCDH19 | c.1755C>G (p.Tyr585Ter) | ClinVar dbSNP |
| X | g.100406843G= | CA2447976481 | PCDH19 | c.1755C= (p.Tyr585=) | |
| X | g.100406843G>T | CA414002048 | PCDH19 | c.1755C>A (p.Tyr585Ter) | |
| X | g.100406844T>A | CA414002050 | PCDH19 | c.1754A>T (p.Tyr585Phe) | |
| X | g.100406844T>C | CA333826062 | PCDH19 | c.1754A>G (p.Tyr585Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406844T>G | CA414002049 | PCDH19 | c.1754A>C (p.Tyr585Ser) | |
| X | g.100406844T= | CA2447976482 | PCDH19 | c.1754A= (p.Tyr585=) | |
| X | g.100406845A>C | CA414002051 | PCDH19 | c.1753T>G (p.Tyr585Asp) | |
| X | g.100406845A>G | CA414002052 | PCDH19 | c.1753T>C (p.Tyr585His) | |
| X | g.100406845A>T | CA414002053 | PCDH19 | c.1753T>A (p.Tyr585Asn) | |
| X | g.100406846G>A | CA517747445 | PCDH19 | c.1752C>T (p.Gly584=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100406846G>C | CA517747447 | PCDH19 | c.1752C>G (p.Gly584=) | |
| X | g.100406846G= | CA2447976483 | PCDH19 | c.1752C= (p.Gly584=) | |
| X | g.100406846G>T | CA517747444 | PCDH19 | c.1752C>A (p.Gly584=) | |
| X | g.100406847C>A | CA414002054 | PCDH19 | c.1751G>T (p.Gly584Val) | |
| X | g.100406847C= | CA2447976484 | PCDH19 | c.1751G= (p.Gly584=) | |
| X | g.100406847C>G | CA10468846 | PCDH19 | c.1751G>C (p.Gly584Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100406847C>T | CA414002055 | PCDH19 | c.1751G>A (p.Gly584Asp) | COSMIC COSMIC |
| X | g.100406848C>A | CA414002056 | PCDH19 | c.1750G>T (p.Gly584Cys) | |
| X | g.100406848C>G | CA414002058 | PCDH19 | c.1750G>C (p.Gly584Arg) | |
| X | g.100406848C>T | CA414002057 | PCDH19 | c.1750G>A (p.Gly584Ser) | |
| X | g.100406849T>A | CA517747452 | PCDH19 | c.1749A>T (p.Ile583=) | |
| X | g.100406849T>C | CA414002059 | PCDH19 | c.1749A>G (p.Ile583Met) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100406849T>G | CA517747451 | PCDH19 | c.1749A>C (p.Ile583=) | |
| X | g.100406849T= | CA2447976485 | PCDH19 | c.1749A= (p.Ile583=) | |
| X | g.100406850A= | CA2447976486 | PCDH19 | c.1748T= (p.Ile583=) | |
| X | g.100406850A>C | CA414002060 | PCDH19 | c.1748T>G (p.Ile583Arg) | |
| X | g.100406850A>G | CA414002061 | PCDH19 | c.1748T>C (p.Ile583Thr) | ClinVar dbSNP gnomAD v4 |
| X | g.100406850A>T | CA414002062 | PCDH19 | c.1748T>A (p.Ile583Lys) | |
| X | g.100406851T>A | CA414002063 | PCDH19 | c.1747A>T (p.Ile583Leu) | |
| X | g.100406851T>C | CA414002064 | PCDH19 | c.1747A>G (p.Ile583Val) | gnomAD v4 |
| X | g.100406851T>G | CA414002065 | PCDH19 | c.1747A>C (p.Ile583Leu) | |
| X | g.100406852G>A | CA517747461 | PCDH19 | c.1746C>T (p.Gly582=) | |
| X | g.100406852G>C | CA517747459 | PCDH19 | c.1746C>G (p.Gly582=) | |
| X | g.100406852G>T | CA517747460 | PCDH19 | c.1746C>A (p.Gly582=) | |
| X | g.100406853C>A | CA414002066 | PCDH19 | c.1745G>T (p.Gly582Val) | dbSNP |
| X | g.100406853C= | CA2447976487 | PCDH19 | c.1745G= (p.Gly582=) | |
| X | g.100406853C>G | CA333826063 | PCDH19 | c.1745G>C (p.Gly582Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406853C>T | CA414002067 | PCDH19 | c.1745G>A (p.Gly582Asp) | |
| X | g.100406854C>A | CA414002070 | PCDH19 | c.1744G>T (p.Gly582Cys) | |
| X | g.100406854C>G | CA414002069 | PCDH19 | c.1744G>C (p.Gly582Arg) | |
| X | g.100406854C>T | CA414002068 | PCDH19 | c.1744G>A (p.Gly582Ser) | |
| X | g.100406855A>C | CA517747466 | PCDH19 | c.1743T>G (p.Ser581=) | |
| X | g.100406855A>G | CA517747468 | PCDH19 | c.1743T>C (p.Ser581=) | |
| X | g.100406855A>T | CA517747469 | PCDH19 | c.1743T>A (p.Ser581=) | |
| X | g.100406856G>A | CA414002071 | PCDH19 | c.1742C>T (p.Ser581Phe) | |
| X | g.100406856G>C | CA414002073 | PCDH19 | c.1742C>G (p.Ser581Cys) | |
| X | g.100406856G>T | CA414002072 | PCDH19 | c.1742C>A (p.Ser581Tyr) | |
| X | g.100406857A>C | CA414002074 | PCDH19 | c.1741T>G (p.Ser581Ala) | |
| X | g.100406857A>G | CA414002075 | PCDH19 | c.1741T>C (p.Ser581Pro) | |
| X | g.100406857A>T | CA414002076 | PCDH19 | c.1741T>A (p.Ser581Thr) | |
| X | g.100406858G>A | CA517747474 | PCDH19 | c.1740C>T (p.Asn580=) | |
| X | g.100406858G>C | CA316248 | PCDH19 | c.1740C>G (p.Asn580Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.100406858G= | CA2447976488 | PCDH19 | c.1740C= (p.Asn580=) | |
| X | g.100406858G>T | CA414002077 | PCDH19 | c.1740C>A (p.Asn580Lys) | |
| X | g.100406859T>A | CA414002078 | PCDH19 | c.1739A>T (p.Asn580Ile) | |
| X | g.100406859T>C | CA414002079 | PCDH19 | c.1739A>G (p.Asn580Ser) | |
| X | g.100406859T>G | CA414002080 | PCDH19 | c.1739A>C (p.Asn580Thr) | |
| X | g.100406860T>A | CA414002081 | PCDH19 | c.1738A>T (p.Asn580Tyr) | |
| X | g.100406860T>C | CA414002082 | PCDH19 | c.1738A>G (p.Asn580Asp) | |
| X | g.100406860T>G | CA414002083 | PCDH19 | c.1738A>C (p.Asn580His) | |
| X | g.100406861G>A | CA517747478 | PCDH19 | c.1737C>T (p.Arg579=) | dbSNP |
| X | g.100406861G>C | CA517747479 | PCDH19 | c.1737C>G (p.Arg579=) | gnomAD v4 |
| X | g.100406861G= | CA2447976489 | PCDH19 | c.1737C= (p.Arg579=) | |
| X | g.100406861G>T | CA517747480 | PCDH19 | c.1737C>A (p.Arg579=) | ClinVar |
| X | g.100406862C>A | CA414002086 | PCDH19 | c.1736G>T (p.Arg579Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.100406862C= | CA2447976490 | PCDH19 | c.1736G= (p.Arg579=) | |
| X | g.100406862C>G | CA414002084 | PCDH19 | c.1736G>C (p.Arg579Pro) | |
| X | g.100406862C>T | CA414002085 | PCDH19 | c.1736G>A (p.Arg579His) | COSMIC COSMIC |
| X | g.100406863G>A | CA414002087 | PCDH19 | c.1735C>T (p.Arg579Cys) | gnomAD v4 |
| X | g.100406863G>C | CA414002088 | PCDH19 | c.1735C>G (p.Arg579Gly) | |
| X | g.100406863G>T | CA414002089 | PCDH19 | c.1735C>A (p.Arg579Ser) | |
| X | g.100406864G>A | CA10468847 | PCDH19 | c.1734C>T (p.Pro578=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100406864G>C | CA517747486 | PCDH19 | c.1734C>G (p.Pro578=) | |
| X | g.100406864G= | CA2447976491 | PCDH19 | c.1734C= (p.Pro578=) | |
| X | g.100406864G>T | CA517747487 | PCDH19 | c.1734C>A (p.Pro578=) | |
| X | g.100406865G>A | CA414002090 | PCDH19 | c.1733C>T (p.Pro578Leu) | |
| X | g.100406865G>C | CA414002091 | PCDH19 | c.1733C>G (p.Pro578Arg) | |
| X | g.100406865G>T | CA414002092 | PCDH19 | c.1733C>A (p.Pro578His) | |
| X | g.100406866G>A | CA333826064 | PCDH19 | c.1732C>T (p.Pro578Ser) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.100406866G>C | CA414002093 | PCDH19 | c.1732C>G (p.Pro578Ala) | |
| X | g.100406866G= | CA2447976492 | PCDH19 | c.1732C= (p.Pro578=) | |
| X | g.100406866G>T | CA414002094 | PCDH19 | c.1732C>A (p.Pro578Thr) | |
| X | g.100406867T>A | CA517747493 | PCDH19 | c.1731A>T (p.Ile577=) | |
| X | g.100406867T>C | CA414002095 | PCDH19 | c.1731A>G (p.Ile577Met) | |
| X | g.100406867T>G | CA517747492 | PCDH19 | c.1731A>C (p.Ile577=) | |
| X | g.100406868A>C | CA414002097 | PCDH19 | c.1730T>G (p.Ile577Arg) | |
| X | g.100406868A>G | CA414002098 | PCDH19 | c.1730T>C (p.Ile577Thr) | gnomAD v4 |
| X | g.100406868A>T | CA414002096 | PCDH19 | c.1730T>A (p.Ile577Lys) | |
| X | g.100406869T>A | CA414002099 | PCDH19 | c.1729A>T (p.Ile577Leu) | |
| X | g.100406869T>C | CA414002100 | PCDH19 | c.1729A>G (p.Ile577Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100406869T>G | CA414002101 | PCDH19 | c.1729A>C (p.Ile577Leu) | |
| X | g.100406869T= | CA2447976493 | PCDH19 | c.1729A= (p.Ile577=) | |
| X | g.100406870G>A | CA517747499 | PCDH19 | c.1728C>T (p.Tyr576=) | |
| X | g.100406870G>C | CA414002102 | PCDH19 | c.1728C>G (p.Tyr576Ter) | ClinVar |
| X | g.100406870G>T | CA414002103 | PCDH19 | c.1728C>A (p.Tyr576Ter) | |
| X | g.100406871T>A | CA414002104 | PCDH19 | c.1727A>T (p.Tyr576Phe) | |
| X | g.100406871T>C | CA414002105 | PCDH19 | c.1727A>G (p.Tyr576Cys) | ClinVar gnomAD v4 |
| X | g.100406871T>G | CA414002106 | PCDH19 | c.1727A>C (p.Tyr576Ser) | |
| X | g.100406872A>C | CA414002107 | PCDH19 | c.1726T>G (p.Tyr576Asp) | |
| X | g.100406872A>G | CA414002108 | PCDH19 | c.1726T>C (p.Tyr576His) | |
| X | g.100406872A>T | CA414002109 | PCDH19 | c.1726T>A (p.Tyr576Asn) | |
| X | g.100406873G>A | CA295129 | PCDH19 | c.1725C>T (p.Val575=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406873G>C | CA517747506 | PCDH19 | c.1725C>G (p.Val575=) | |
| X | g.100406873G= | CA2447976494 | PCDH19 | c.1725C= (p.Val575=) | |
| X | g.100406873G>T | CA517747505 | PCDH19 | c.1725C>A (p.Val575=) | |
| X | g.100406874A>C | CA414002111 | PCDH19 | c.1724T>G (p.Val575Gly) | |
| X | g.100406874A>G | CA414002112 | PCDH19 | c.1724T>C (p.Val575Ala) | |
| X | g.100406874A>T | CA414002110 | PCDH19 | c.1724T>A (p.Val575Asp) | |
| X | g.100406875C>A | CA414002113 | PCDH19 | c.1723G>T (p.Val575Phe) | |
| X | g.100406875C= | CA2447976495 | PCDH19 | c.1723G= (p.Val575=) | |
| X | g.100406875C>G | CA414002114 | PCDH19 | c.1723G>C (p.Val575Leu) | |
| X | g.100406875C>T | CA414002115 | PCDH19 | c.1723G>A (p.Val575Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100406876_100406878dup | CA2694245795 | PCDH19 | c.1721_1723dup (p.Glu574_Val575insGlu) | gnomAD v4 |
| X | g.100406876C>A | CA414002116 | PCDH19 | c.1722G>T (p.Glu574Asp) | gnomAD v4 |
| X | g.100406876C= | CA2447976496 | PCDH19 | c.1722G= (p.Glu574=) | |
| X | g.100406876C>G | CA10468848 | PCDH19 | c.1722G>C (p.Glu574Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100406876C>T | CA517747513 | PCDH19 | c.1722G>A (p.Glu574=) | ClinVar dbSNP |
| X | g.100406877T>A | CA414002119 | PCDH19 | c.1721A>T (p.Glu574Val) | gnomAD v4 |
| X | g.100406877T>C | CA414002117 | PCDH19 | c.1721A>G (p.Glu574Gly) | |
| X | g.100406877T>G | CA414002118 | PCDH19 | c.1721A>C (p.Glu574Ala) | |
| X | g.100406878C>A | CA16621901 | PCDH19 | c.1720G>T (p.Glu574Ter) | ClinVar dbSNP |
| X | g.100406878C= | CA2447976497 | PCDH19 | c.1720G= (p.Glu574=) | |
| X | g.100406878C>G | CA414002120 | PCDH19 | c.1720G>C (p.Glu574Gln) | gnomAD v4 |
| X | g.100406878C>T | CA414002121 | PCDH19 | c.1720G>A (p.Glu574Lys) | dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.100406879G>A | CA517747515 | PCDH19 | c.1719C>T (p.Ala573=) | ClinVar dbSNP gnomAD v4 |
| X | g.100406879G>C | CA517747516 | PCDH19 | c.1719C>G (p.Ala573=) | ClinVar dbSNP |
| X | g.100406879G= | CA2447976498 | PCDH19 | c.1719C= (p.Ala573=) | |
| X | g.100406879G>T | CA517747517 | PCDH19 | c.1719C>A (p.Ala573=) | |
| X | g.100406879_100406885dup | CA916083978 | PCDH19 | c.1713_1719dup (p.Glu574HisfsTer26) | ClinVar dbSNP |
| X | g.100406880G>A | CA414002122 | PCDH19 | c.1718C>T (p.Ala573Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406880G>C | CA414002123 | PCDH19 | c.1718C>G (p.Ala573Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100406880G= | CA2447976499 | PCDH19 | c.1718C= (p.Ala573=) | |
| X | g.100406880G>T | CA414002124 | PCDH19 | c.1718C>A (p.Ala573Asp) | |
| X | g.100406881C>A | CA414002126 | PCDH19 | c.1717G>T (p.Ala573Ser) | |
| X | g.100406881C>G | CA414002127 | PCDH19 | c.1717G>C (p.Ala573Pro) | |
| X | g.100406881C>T | CA414002125 | PCDH19 | c.1717G>A (p.Ala573Thr) | |
| X | g.100406882A= | CA2447976500 | PCDH19 | c.1716T= (p.Thr572=) | |
| X | g.100406882A>C | CA517747518 | PCDH19 | c.1716T>G (p.Thr572=) | |
| X | g.100406882A>G | CA517747520 | PCDH19 | c.1716T>C (p.Thr572=) | gnomAD v4 |
| X | g.100406882A>T | CA10468849 | PCDH19 | c.1716T>A (p.Thr572=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100406882_100406888del | CA2695235306 | PCDH19 | c.1710_1716del (p.Asn570LysfsTer12) | |
| X | g.100406883del | CA2739273661 | PCDH19 | c.1715del (p.Thr572MetfsTer12) | ClinVar |
| X | g.100406883G>A | CA414002128 | PCDH19 | c.1715C>T (p.Thr572Ile) | |
| X | g.100406883G>C | CA414002130 | PCDH19 | c.1715C>G (p.Thr572Ser) | |
| X | g.100406883G>T | CA414002129 | PCDH19 | c.1715C>A (p.Thr572Asn) | |
| X | g.100406884T>A | CA414002131 | PCDH19 | c.1714A>T (p.Thr572Ser) | |
| X | g.100406884T>C | CA414002132 | PCDH19 | c.1714A>G (p.Thr572Ala) | |
| X | g.100406884T>G | CA414002133 | PCDH19 | c.1714A>C (p.Thr572Pro) | |
| X | g.100406884_100406885insC | CA2566555919 | PCDH19 | c.1713_1714insG (p.Thr572AspfsTer26) | |
| X | g.100406885G>A | CA10468850 | PCDH19 | c.1713C>T (p.Gly571=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100406885G>C | CA517747526 | PCDH19 | c.1713C>G (p.Gly571=) | |
| X | g.100406885G= | CA2447976501 | PCDH19 | c.1713C= (p.Gly571=) | |
| X | g.100406885G>T | CA517747529 | PCDH19 | c.1713C>A (p.Gly571=) | |
| X | g.100406885dup | CA2512157170 | PCDH19 | c.1713dup (p.Thr572HisfsTer26) | |
| X | g.100406886C>A | CA414002134 | PCDH19 | c.1712G>T (p.Gly571Val) | |
| X | g.100406886C>G | CA414002135 | PCDH19 | c.1712G>C (p.Gly571Ala) | |
| X | g.100406886C>T | CA414002136 | PCDH19 | c.1712G>A (p.Gly571Asp) | |
| X | g.100406887C>A | CA414002137 | PCDH19 | c.1711G>T (p.Gly571Cys) | ClinVar dbSNP |
| X | g.100406887C= | CA2447976502 | PCDH19 | c.1711G= (p.Gly571=) | |
| X | g.100406887C>G | CA10468851 | PCDH19 | c.1711G>C (p.Gly571Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406887C>T | CA414002138 | PCDH19 | c.1711G>A (p.Gly571Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100406888G>A | CA517747531 | PCDH19 | c.1710C>T (p.Asn570=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.100406888G>C | CA414002139 | PCDH19 | c.1710C>G (p.Asn570Lys) | |
| X | g.100406888G= | CA2447976503 | PCDH19 | c.1710C= (p.Asn570=) | |
| X | g.100406888G>T | CA414002140 | PCDH19 | c.1710C>A (p.Asn570Lys) | |
| X | g.100406889T>A | CA414002143 | PCDH19 | c.1709A>T (p.Asn570Ile) | |
| X | g.100406889T>C | CA414002142 | PCDH19 | c.1709A>G (p.Asn570Ser) | |
| X | g.100406889T>G | CA414002141 | PCDH19 | c.1709A>C (p.Asn570Thr) | |
| X | g.100406890del | CA2547388998 | PCDH19 | c.1709del (p.Asn570ThrfsTer14) | |
| X | g.100406890T>A | CA414002144 | PCDH19 | c.1708A>T (p.Asn570Tyr) | |
| X | g.100406890T>C | CA414002145 | PCDH19 | c.1708A>G (p.Asn570Asp) | |
| X | g.100406890T>G | CA414002146 | PCDH19 | c.1708A>C (p.Asn570His) | |
| X | g.100406890_100406891del | CA2550564162 | PCDH19 | c.1707_1708del (p.Asn570ArgfsTer27) | |
| X | g.100406891A= | CA2447976504 | PCDH19 | c.1707T= (p.Ile569=) | |
| X | g.100406891A>C | CA414002147 | PCDH19 | c.1707T>G (p.Ile569Met) | |
| X | g.100406891A>G | CA517747541 | PCDH19 | c.1707T>C (p.Ile569=) | dbSNP |
| X | g.100406891A>T | CA517747540 | PCDH19 | c.1707T>A (p.Ile569=) | |
| X | g.100406892dup | CA2739273662 | PCDH19 | c.1707dup (p.Asn570Ter) | ClinVar |
| X | g.100406892del | CA2502338771 | PCDH19 | c.1707del (p.Asn570ThrfsTer14) | |
| X | g.100406892A>C | CA414002148 | PCDH19 | c.1706T>G (p.Ile569Ser) | |
| X | g.100406892A>G | CA414002149 | PCDH19 | c.1706T>C (p.Ile569Thr) | dbSNP |
| X | g.100406892A>T | CA414002150 | PCDH19 | c.1706T>A (p.Ile569Asn) | |
| X | g.100406893del | CA2565498348 | PCDH19 | c.1705del (p.Ile569LeufsTer15) | |
| X | g.100406893T>A | CA414002151 | PCDH19 | c.1705A>T (p.Ile569Phe) | |
| X | g.100406893T>C | CA414002152 | PCDH19 | c.1705A>G (p.Ile569Val) | gnomAD v4 |
| X | g.100406893T>G | CA414002153 | PCDH19 | c.1705A>C (p.Ile569Leu) | |
| X | g.100406894C>A | CA517747548 | PCDH19 | c.1704G>T (p.Leu568=) | |
| X | g.100406894C>G | CA517747549 | PCDH19 | c.1704G>C (p.Leu568=) | |
| X | g.100406894C>T | CA517747550 | PCDH19 | c.1704G>A (p.Leu568=) | |
| X | g.100406895A>C | CA414002154 | PCDH19 | c.1703T>G (p.Leu568Arg) | |
| X | g.100406895A>G | CA414002155 | PCDH19 | c.1703T>C (p.Leu568Pro) | |
| X | g.100406895A>T | CA414002156 | PCDH19 | c.1703T>A (p.Leu568Gln) | |
| X | g.100406895_100406896insTTAAAA | CA2549662020 | PCDH19 | c.1703_1704insTTTAAT (p.Leu568_Ile569insLeuMet) | |
| X | g.100406896G>A | CA517747555 | PCDH19 | c.1702C>T (p.Leu568=) | ClinVar gnomAD v4 |
| X | g.100406896G>C | CA414002157 | PCDH19 | c.1702C>G (p.Leu568Val) | |
| X | g.100406896G>T | CA414002158 | PCDH19 | c.1702C>A (p.Leu568Met) | |
| X | g.100406896_100406899del | CA2554550691 | PCDH19 | c.1699_1702del (p.Pro567Ter) | |
| X | g.100406897A>C | CA517747556 | PCDH19 | c.1701T>G (p.Pro567=) | |
| X | g.100406897A>G | CA517747558 | PCDH19 | c.1701T>C (p.Pro567=) | |
| X | g.100406897A>T | CA517747557 | PCDH19 | c.1701T>A (p.Pro567=) | |
| X | g.100406898G>A | CA414002159 | PCDH19 | c.1700C>T (p.Pro567Leu) | ClinVar dbSNP |
| X | g.100406898G>C | CA10468852 | PCDH19 | c.1700C>G (p.Pro567Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406898G= | CA2447976505 | PCDH19 | c.1700C= (p.Pro567=) | |
| X | g.100406898G>T | CA333826065 | PCDH19 | c.1700C>A (p.Pro567His) | dbSNP |
| X | g.100406900_100406904del | CA2528687005 | PCDH19 | c.1696_1700del (p.Pro566SerfsTer3) | |
| X | g.100406899G>A | CA414002160 | PCDH19 | c.1699C>T (p.Pro567Ser) | |
| X | g.100406899G>C | CA414002161 | PCDH19 | c.1699C>G (p.Pro567Ala) | |
| X | g.100406899G= | CA2447976506 | PCDH19 | c.1699C= (p.Pro567=) | |
| X | g.100406899G>T | CA414002162 | PCDH19 | c.1699C>A (p.Pro567Thr) | dbSNP |
| X | g.100406900T>A | CA517747562 | PCDH19 | c.1698A>T (p.Pro566=) | |
| X | g.100406900T>C | CA517747563 | PCDH19 | c.1698A>G (p.Pro566=) | |
| X | g.100406900T>G | CA517747565 | PCDH19 | c.1698A>C (p.Pro566=) | |
| X | g.100406901G>A | CA414002163 | PCDH19 | c.1697C>T (p.Pro566Leu) | |
| X | g.100406901G>C | CA414002164 | PCDH19 | c.1697C>G (p.Pro566Arg) | |
| X | g.100406901G= | CA2447976507 | PCDH19 | c.1697C= (p.Pro566=) | |
| X | g.100406901G>T | CA414002165 | PCDH19 | c.1697C>A (p.Pro566Gln) | ClinVar dbSNP |
| X | g.100406901_100406915delinsGGGGCTGTGATGACC | CA2447976508 | PCDH19 | c.1683_1697delinsGGTCATCACAGCCCC (p.Pro561=) | |
| X | g.100406901_100406902insAAAAA | CA2508946022 | PCDH19 | c.1696_1697insTTTTT (p.Pro566LeufsTer5) | |
| X | g.100406902G>A | CA414002166 | PCDH19 | c.1696C>T (p.Pro566Ser) | ClinVar dbSNP COSMIC COSMIC |
| X | g.100406902G>C | CA414002167 | PCDH19 | c.1696C>G (p.Pro566Ala) | ClinVar dbSNP |
| X | g.100406902G= | CA2447976509 | PCDH19 | c.1696C= (p.Pro566=) | |
| X | g.100406902G>T | CA414002168 | PCDH19 | c.1696C>A (p.Pro566Thr) | |
| X | g.100406905_100406918del | CA316405 | PCDH19 | c.1683_1696del (p.Val562ThrfsTer4) | ClinVar dbSNP |
| X | g.100406903G>A | CA517747572 | PCDH19 | c.1695C>T (p.Ala565=) | |
| X | g.100406903G>C | CA517747574 | PCDH19 | c.1695C>G (p.Ala565=) | |
| X | g.100406903G>T | CA517747575 | PCDH19 | c.1695C>A (p.Ala565=) | |
| X | g.100406904G>A | CA414002170 | PCDH19 | c.1694C>T (p.Ala565Val) | |
| X | g.100406904G>C | CA414002171 | PCDH19 | c.1694C>G (p.Ala565Gly) | |
| X | g.100406904G>T | CA414002169 | PCDH19 | c.1694C>A (p.Ala565Asp) | |
| X | g.100406905C>A | CA414002172 | PCDH19 | c.1693G>T (p.Ala565Ser) | |
| X | g.100406905C= | CA2447976510 | PCDH19 | c.1693G= (p.Ala565=) | |
| X | g.100406905C>G | CA414002173 | PCDH19 | c.1693G>C (p.Ala565Pro) | ClinVar dbSNP |
| X | g.100406905C>T | CA414002174 | PCDH19 | c.1693G>A (p.Ala565Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406906T>A | CA517747582 | PCDH19 | c.1692A>T (p.Thr564=) | |
| X | g.100406906T>C | CA517747581 | PCDH19 | c.1692A>G (p.Thr564=) | |
| X | g.100406906T>G | CA517747580 | PCDH19 | c.1692A>C (p.Thr564=) | |
| X | g.100406907G>A | CA414002175 | PCDH19 | c.1691C>T (p.Thr564Ile) | dbSNP gnomAD v2 |
| X | g.100406907G>C | CA414002176 | PCDH19 | c.1691C>G (p.Thr564Arg) | |
| X | g.100406907G= | CA2447976511 | PCDH19 | c.1691C= (p.Thr564=) | |
| X | g.100406907G>T | CA414002177 | PCDH19 | c.1691C>A (p.Thr564Lys) | |
| X | g.100406908T>A | CA414002178 | PCDH19 | c.1690A>T (p.Thr564Ser) | |
| X | g.100406908T>C | CA414002180 | PCDH19 | c.1690A>G (p.Thr564Ala) | |
| X | g.100406908T>G | CA414002179 | PCDH19 | c.1690A>C (p.Thr564Pro) | |
| X | g.100406909G>A | CA517747588 | PCDH19 | c.1689C>T (p.Ile563=) | COSMIC COSMIC |
| X | g.100406909G>C | CA414002181 | PCDH19 | c.1689C>G (p.Ile563Met) | |
| X | g.100406909G>T | CA517747589 | PCDH19 | c.1689C>A (p.Ile563=) | |
| X | g.100406910A>C | CA414002182 | PCDH19 | c.1688T>G (p.Ile563Ser) | |
| X | g.100406910A>G | CA414002183 | PCDH19 | c.1688T>C (p.Ile563Thr) | |
| X | g.100406910A>T | CA414002184 | PCDH19 | c.1688T>A (p.Ile563Asn) | |
| X | g.100406911T>A | CA414002187 | PCDH19 | c.1687A>T (p.Ile563Phe) | |
| X | g.100406911T>C | CA414002185 | PCDH19 | c.1687A>G (p.Ile563Val) | |
| X | g.100406911T>G | CA414002186 | PCDH19 | c.1687A>C (p.Ile563Leu) | |
| X | g.100406912G>A | CA517747594 | PCDH19 | c.1686C>T (p.Val562=) | |
| X | g.100406912G>C | CA517747595 | PCDH19 | c.1686C>G (p.Val562=) | |
| X | g.100406912G>T | CA517747596 | PCDH19 | c.1686C>A (p.Val562=) | |
| X | g.100406913A>C | CA414002188 | PCDH19 | c.1685T>G (p.Val562Gly) | |
| X | g.100406913A>G | CA414002190 | PCDH19 | c.1685T>C (p.Val562Ala) | |
| X | g.100406913A>T | CA414002189 | PCDH19 | c.1685T>A (p.Val562Asp) | |
| X | g.100406914C>A | CA414002191 | PCDH19 | c.1684G>T (p.Val562Phe) | |
| X | g.100406914C= | CA2447976512 | PCDH19 | c.1684G= (p.Val562=) | |
| X | g.100406914C>G | CA414002192 | PCDH19 | c.1684G>C (p.Val562Leu) | |
| X | g.100406914C>T | CA10468853 | PCDH19 | c.1684G>A (p.Val562Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406915C>A | CA517747600 | PCDH19 | c.1683G>T (p.Pro561=) | |
| X | g.100406915C= | CA2447976513 | PCDH19 | c.1683G= (p.Pro561=) | |
| X | g.100406915C>G | CA517747602 | PCDH19 | c.1683G>C (p.Pro561=) | |
| X | g.100406915C>T | CA147195 | PCDH19 | c.1683G>A (p.Pro561=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406915_100406916delinsCG | CA2447976514 | PCDH19 | c.1682_1683delinsCG (p.Pro561=) | |
| X | g.100406916G>A | CA414002193 | PCDH19 | c.1682C>T (p.Pro561Leu) | ClinVar dbSNP |
| X | g.100406916G>C | CA316366 | PCDH19 | c.1682C>G (p.Pro561Arg) | ClinVar dbSNP |
| X | g.100406916G= | CA2447976515 | PCDH19 | c.1682C= (p.Pro561=) | |
| X | g.100406916G>T | CA414002194 | PCDH19 | c.1682C>A (p.Pro561Gln) | |
| X | g.100406919del | CA915951268 | PCDH19 | c.1682del (p.Pro561ArgfsTer8) | ClinVar dbSNP |
| X | g.100406916_100406922delinsCGCACC | CA2695235307 | PCDH19 | c.1676_1682delinsGGTGCG (p.Asn559ArgfsTer10) |