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.23379582_23379590del | CA2693313013 | PTCHD1 | c.352-9_352-1del (n.352-9_352-1del) c.159-12949_159-12941del c.37-9_37-1del (n.37-9_37-1del) | gnomAD v4 |
| X | g.23379589A>C | CA412579519 | PTCHD1 | c.352-2A>C (n.352-2A>C) c.159-12942A>C c.37-2A>C (n.37-2A>C) | |
| X | g.23379589A>G | CA412579517 | PTCHD1 | c.352-2A>G (n.352-2A>G) c.159-12942A>G c.37-2A>G (n.37-2A>G) | |
| X | g.23379589A>T | CA412579518 | PTCHD1 | c.352-2A>T (n.352-2A>T) c.159-12942A>T c.37-2A>T (n.37-2A>T) | |
| X | g.23379590G>A | CA412579520 | PTCHD1 | c.352-1G>A (n.352-1G>A) c.159-12941G>A c.37-1G>A (n.37-1G>A) | |
| X | g.23379590G>C | CA412579521 | PTCHD1 | c.352-1G>C (n.352-1G>C) c.159-12941G>C c.37-1G>C (n.37-1G>C) | |
| X | g.23379590G>T | CA412579522 | PTCHD1 | c.352-1G>T (n.352-1G>T) c.159-12941G>T c.37-1G>T (n.37-1G>T) | |
| X | g.23379591T>A | CA412579523 | PTCHD1 | c.352T>A (p.Leu118Met) c.159-12940T>A c.37T>A (p.Leu13Met) | |
| X | g.23379591T>C | CA515619282 | PTCHD1 | c.352T>C (p.Leu118=) c.159-12940T>C c.37T>C (p.Leu13=) | |
| X | g.23379591T>G | CA412579524 | PTCHD1 | c.352T>G (p.Leu118Val) c.159-12940T>G c.37T>G (p.Leu13Val) | |
| X | g.23379592_23379593insTTTTTTTTT | CA2741736977 | PTCHD1 | c.353_354insTTTTTTTTT (p.Lys117_Leu118insPhePhePhe) c.159-12939_159-12938insTTTTTTTTT c.38_39insTTTTTTTTT (p.Lys12_Leu13insPhePhePhe) | |
| X | g.23379592T>A | CA412579527 | PTCHD1 | c.353T>A (p.Leu118Ter) c.159-12939T>A c.38T>A (p.Leu13Ter) | |
| X | g.23379592T>C | CA412579525 | PTCHD1 | c.353T>C (p.Leu118Ser) c.159-12939T>C c.38T>C (p.Leu13Ser) | |
| X | g.23379592T>G | CA412579526 | PTCHD1 | c.353T>G (p.Leu118Trp) c.159-12939T>G c.38T>G (p.Leu13Trp) | |
| X | g.23379593G>A | CA515619284 | PTCHD1 | c.354G>A (p.Leu118=) c.159-12938G>A c.39G>A (p.Leu13=) | gnomAD v4 |
| X | g.23379593G>C | CA412579528 | PTCHD1 | c.354G>C (p.Leu118Phe) c.159-12938G>C c.39G>C (p.Leu13Phe) | |
| X | g.23379593G>T | CA412579529 | PTCHD1 | c.354G>T (p.Leu118Phe) c.159-12938G>T c.39G>T (p.Leu13Phe) | |
| X | g.23379594C>A | CA412579530 | PTCHD1 | c.355C>A (p.His119Asn) c.159-12937C>A c.40C>A (p.His14Asn) | |
| X | g.23379594C>G | CA412579531 | PTCHD1 | c.355C>G (p.His119Asp) c.159-12937C>G c.40C>G (p.His14Asp) | |
| X | g.23379594C>T | CA412579532 | PTCHD1 | c.355C>T (p.His119Tyr) c.159-12937C>T c.40C>T (p.His14Tyr) | |
| X | g.23379595A>C | CA412579533 | PTCHD1 | c.356A>C (p.His119Pro) c.159-12936A>C c.41A>C (p.His14Pro) | |
| X | g.23379595A>G | CA412579534 | PTCHD1 | c.356A>G (p.His119Arg) c.159-12936A>G c.41A>G (p.His14Arg) | |
| X | g.23379595A>T | CA412579535 | PTCHD1 | c.356A>T (p.His119Leu) c.159-12936A>T c.41A>T (p.His14Leu) | |
| X | g.23379596T>A | CA412579536 | PTCHD1 | c.357T>A (p.His119Gln) c.159-12935T>A c.42T>A (p.His14Gln) | |
| X | g.23379596T>C | CA515619289 | PTCHD1 | c.357T>C (p.His119=) c.159-12935T>C c.42T>C (p.His14=) | |
| X | g.23379596T>G | CA412579537 | PTCHD1 | c.357T>G (p.His119Gln) c.159-12935T>G c.42T>G (p.His14Gln) | |
| X | g.23379597G>A | CA10369024 | PTCHD1 | c.358G>A (p.Ala120Thr) c.159-12934G>A c.43G>A (p.Ala15Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.23379597G>C | CA412579538 | PTCHD1 | c.358G>C (p.Ala120Pro) c.159-12934G>C c.43G>C (p.Ala15Pro) | |
| X | g.23379597G= | CA2419636284 | PTCHD1 | c.358G= (p.Ala120=) c.159-12934G= c.43G= (p.Ala15=) | |
| X | g.23379597G>T | CA412579539 | PTCHD1 | c.358G>T (p.Ala120Ser) c.159-12934G>T c.43G>T (p.Ala15Ser) | |
| X | g.23379598C>A | CA412579540 | PTCHD1 | c.359C>A (p.Ala120Asp) c.159-12933C>A c.44C>A (p.Ala15Asp) | |
| X | g.23379598C>G | CA412579542 | PTCHD1 | c.359C>G (p.Ala120Gly) c.159-12933C>G c.44C>G (p.Ala15Gly) | gnomAD v4 |
| X | g.23379598C>T | CA412579541 | PTCHD1 | c.359C>T (p.Ala120Val) c.159-12933C>T c.44C>T (p.Ala15Val) | |
| X | g.23379599T>A | CA515619293 | PTCHD1 | c.360T>A (p.Ala120=) c.159-12932T>A c.45T>A (p.Ala15=) | |
| X | g.23379599T>C | CA515619294 | PTCHD1 | c.360T>C (p.Ala120=) c.159-12932T>C c.45T>C (p.Ala15=) | |
| X | g.23379599T>G | CA515619295 | PTCHD1 | c.360T>G (p.Ala120=) c.159-12932T>G c.45T>G (p.Ala15=) | |
| X | g.23379600G>A | CA412579543 | PTCHD1 | c.361G>A (p.Ala121Thr) c.159-12931G>A c.46G>A (p.Ala16Thr) | |
| X | g.23379600G>C | CA412579544 | PTCHD1 | c.361G>C (p.Ala121Pro) c.159-12931G>C c.46G>C (p.Ala16Pro) | |
| X | g.23379600G>T | CA412579545 | PTCHD1 | c.361G>T (p.Ala121Ser) c.159-12931G>T c.46G>T (p.Ala16Ser) | |
| X | g.23379601C>A | CA412579546 | PTCHD1 | c.362C>A (p.Ala121Asp) c.159-12930C>A c.47C>A (p.Ala16Asp) | |
| X | g.23379601C>G | CA412579547 | PTCHD1 | c.362C>G (p.Ala121Gly) c.159-12930C>G c.47C>G (p.Ala16Gly) | |
| X | g.23379601C>T | CA412579548 | PTCHD1 | c.362C>T (p.Ala121Val) c.159-12930C>T c.47C>T (p.Ala16Val) | COSMIC COSMIC |
| X | g.23379602T>A | CA515619299 | PTCHD1 | c.363T>A (p.Ala121=) c.159-12929T>A c.48T>A (p.Ala16=) | |
| X | g.23379602T>C | CA327633872 | PTCHD1 | c.363T>C (p.Ala121=) c.159-12929T>C c.48T>C (p.Ala16=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.23379602T>G | CA515619302 | PTCHD1 | c.363T>G (p.Ala121=) c.159-12929T>G c.48T>G (p.Ala16=) | |
| X | g.23379602T= | CA2419636285 | PTCHD1 | c.363T= (p.Ala121=) c.159-12929T= c.48T= (p.Ala16=) | |
| X | g.23379603G>A | CA412579549 | PTCHD1 | c.364G>A (p.Val122Ile) c.159-12928G>A c.49G>A (p.Val17Ile) | |
| X | g.23379603G>C | CA412579550 | PTCHD1 | c.364G>C (p.Val122Leu) c.159-12928G>C c.49G>C (p.Val17Leu) | gnomAD v4 |
| X | g.23379603G>T | CA412579551 | PTCHD1 | c.364G>T (p.Val122Phe) c.159-12928G>T c.49G>T (p.Val17Phe) | |
| X | g.23379604T>A | CA412579552 | PTCHD1 | c.365T>A (p.Val122Asp) c.159-12927T>A c.50T>A (p.Val17Asp) | |
| X | g.23379604T>C | CA412579553 | PTCHD1 | c.365T>C (p.Val122Ala) c.159-12927T>C c.50T>C (p.Val17Ala) | |
| X | g.23379604T>G | CA412579554 | PTCHD1 | c.365T>G (p.Val122Gly) c.159-12927T>G c.50T>G (p.Val17Gly) | |
| X | g.23379605C>A | CA515619305 | PTCHD1 | c.366C>A (p.Val122=) c.159-12926C>A c.51C>A (p.Val17=) | |
| X | g.23379605C>G | CA515619306 | PTCHD1 | c.366C>G (p.Val122=) c.159-12926C>G c.51C>G (p.Val17=) | |
| X | g.23379605C>T | CA515619307 | PTCHD1 | c.366C>T (p.Val122=) c.159-12926C>T c.51C>T (p.Val17=) | |
| X | g.23379606A>C | CA412579557 | PTCHD1 | c.367A>C (p.Thr123Pro) c.159-12925A>C c.52A>C (p.Thr18Pro) | |
| X | g.23379606A>G | CA412579555 | PTCHD1 | c.367A>G (p.Thr123Ala) c.159-12925A>G c.52A>G (p.Thr18Ala) | |
| X | g.23379606A>T | CA412579556 | PTCHD1 | c.367A>T (p.Thr123Ser) c.159-12925A>T c.52A>T (p.Thr18Ser) | |
| X | g.23379607C>A | CA412579558 | PTCHD1 | c.368C>A (p.Thr123Asn) c.159-12924C>A c.53C>A (p.Thr18Asn) | |
| X | g.23379607C>G | CA412579559 | PTCHD1 | c.368C>G (p.Thr123Ser) c.159-12924C>G c.53C>G (p.Thr18Ser) | |
| X | g.23379607C>T | CA412579560 | PTCHD1 | c.368C>T (p.Thr123Ile) c.159-12924C>T c.53C>T (p.Thr18Ile) | |
| X | g.23379608C>A | CA515619309 | PTCHD1 | c.369C>A (p.Thr123=) c.159-12923C>A c.54C>A (p.Thr18=) | |
| X | g.23379608C>G | CA515619310 | PTCHD1 | c.369C>G (p.Thr123=) c.159-12923C>G c.54C>G (p.Thr18=) | |
| X | g.23379608C>T | CA515619311 | PTCHD1 | c.369C>T (p.Thr123=) c.159-12923C>T c.54C>T (p.Thr18=) | gnomAD v4 |
| X | g.23379609A>C | CA412579561 | PTCHD1 | c.370A>C (p.Lys124Gln) c.159-12922A>C c.55A>C (p.Lys19Gln) | |
| X | g.23379609A>G | CA412579562 | PTCHD1 | c.370A>G (p.Lys124Glu) c.159-12922A>G c.55A>G (p.Lys19Glu) | |
| X | g.23379609A>T | CA412579563 | PTCHD1 | c.370A>T (p.Lys124Ter) c.159-12922A>T c.55A>T (p.Lys19Ter) | |
| X | g.23379610A>C | CA412579564 | PTCHD1 | c.371A>C (p.Lys124Thr) c.159-12921A>C c.56A>C (p.Lys19Thr) | |
| X | g.23379610A>G | CA412579565 | PTCHD1 | c.371A>G (p.Lys124Arg) c.159-12921A>G c.56A>G (p.Lys19Arg) | |
| X | g.23379610A>T | CA412579566 | PTCHD1 | c.371A>T (p.Lys124Met) c.159-12921A>T c.56A>T (p.Lys19Met) | |
| X | g.23379611G>A | CA515619313 | PTCHD1 | c.372G>A (p.Lys124=) c.159-12920G>A c.57G>A (p.Lys19=) | gnomAD v4 |
| X | g.23379611G>C | CA412579567 | PTCHD1 | c.372G>C (p.Lys124Asn) c.159-12920G>C c.57G>C (p.Lys19Asn) | |
| X | g.23379611G>T | CA412579568 | PTCHD1 | c.372G>T (p.Lys124Asn) c.159-12920G>T c.57G>T (p.Lys19Asn) | |
| X | g.23379612A>C | CA412579569 | PTCHD1 | c.373A>C (p.Ile125Leu) c.159-12919A>C c.58A>C (p.Ile20Leu) | |
| X | g.23379612A>G | CA412579571 | PTCHD1 | c.373A>G (p.Ile125Val) c.159-12919A>G c.58A>G (p.Ile20Val) | |
| X | g.23379612A>T | CA412579570 | PTCHD1 | c.373A>T (p.Ile125Phe) c.159-12919A>T c.58A>T (p.Ile20Phe) | COSMIC COSMIC |
| X | g.23379613T>A | CA412579572 | PTCHD1 | c.374T>A (p.Ile125Asn) c.159-12918T>A c.59T>A (p.Ile20Asn) | |
| X | g.23379613T>C | CA412579574 | PTCHD1 | c.374T>C (p.Ile125Thr) c.159-12918T>C c.59T>C (p.Ile20Thr) | |
| X | g.23379613T>G | CA412579573 | PTCHD1 | c.374T>G (p.Ile125Ser) c.159-12918T>G c.59T>G (p.Ile20Ser) | |
| X | g.23379614C>A | CA515619318 | PTCHD1 | c.375C>A (p.Ile125=) c.159-12917C>A c.60C>A (p.Ile20=) | |
| X | g.23379614C>G | CA412579575 | PTCHD1 | c.375C>G (p.Ile125Met) c.159-12917C>G c.60C>G (p.Ile20Met) | |
| X | g.23379614C>T | CA515619319 | PTCHD1 | c.375C>T (p.Ile125=) c.159-12917C>T c.60C>T (p.Ile20=) | |
| X | g.23379615C>A | CA412579576 | PTCHD1 | c.376C>A (p.Gln126Lys) c.159-12916C>A c.61C>A (p.Gln21Lys) | |
| X | g.23379615C>G | CA412579577 | PTCHD1 | c.376C>G (p.Gln126Glu) c.159-12916C>G c.61C>G (p.Gln21Glu) | |
| X | g.23379615C>T | CA412579578 | PTCHD1 | c.376C>T (p.Gln126Ter) c.159-12916C>T c.61C>T (p.Gln21Ter) | |
| X | g.23379616A>C | CA412579579 | PTCHD1 | c.377A>C (p.Gln126Pro) c.159-12915A>C c.62A>C (p.Gln21Pro) | |
| X | g.23379616A>G | CA412579580 | PTCHD1 | c.377A>G (p.Gln126Arg) c.159-12915A>G c.62A>G (p.Gln21Arg) | |
| X | g.23379616A>T | CA412579581 | PTCHD1 | c.377A>T (p.Gln126Leu) c.159-12915A>T c.62A>T (p.Gln21Leu) | |
| X | g.23379617G>A | CA10369025 | PTCHD1 | c.378G>A (p.Gln126=) c.159-12914G>A c.63G>A (p.Gln21=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.23379617G>C | CA412579582 | PTCHD1 | c.378G>C (p.Gln126His) c.159-12914G>C c.63G>C (p.Gln21His) | |
| X | g.23379617G= | CA2419636286 | PTCHD1 | c.378G= (p.Gln126=) c.159-12914G= c.63G= (p.Gln21=) | |
| X | g.23379617G>T | CA412579583 | PTCHD1 | c.378G>T (p.Gln126His) c.159-12914G>T c.63G>T (p.Gln21His) | |
| X | g.23379618G>A | CA412579586 | PTCHD1 | c.379G>A (p.Val127Ile) c.159-12913G>A c.64G>A (p.Val22Ile) | gnomAD v4 |
| X | g.23379618G>C | CA412579585 | PTCHD1 | c.379G>C (p.Val127Leu) c.159-12913G>C c.64G>C (p.Val22Leu) | |
| X | g.23379618G>T | CA412579584 | PTCHD1 | c.379G>T (p.Val127Phe) c.159-12913G>T c.64G>T (p.Val22Phe) | |
| X | g.23379619T>A | CA412579587 | PTCHD1 | c.380T>A (p.Val127Asp) c.159-12912T>A c.65T>A (p.Val22Asp) | gnomAD v4 |
| X | g.23379619T>C | CA412579588 | PTCHD1 | c.380T>C (p.Val127Ala) c.159-12912T>C c.65T>C (p.Val22Ala) | |
| X | g.23379619T>G | CA412579589 | PTCHD1 | c.380T>G (p.Val127Gly) c.159-12912T>G c.65T>G (p.Val22Gly) | |
| X | g.23379620T>A | CA515619327 | PTCHD1 | c.381T>A (p.Val127=) c.159-12911T>A c.66T>A (p.Val22=) | |
| X | g.23379620T>C | CA515619325 | PTCHD1 | c.381T>C (p.Val127=) c.159-12911T>C c.66T>C (p.Val22=) | |
| X | g.23379620T>G | CA515619324 | PTCHD1 | c.381T>G (p.Val127=) c.159-12911T>G c.66T>G (p.Val22=) | |
| X | g.23379621C>A | CA412579590 | PTCHD1 | c.382C>A (p.Pro128Thr) c.159-12910C>A c.67C>A (p.Pro23Thr) | |
| X | g.23379621C>G | CA412579591 | PTCHD1 | c.382C>G (p.Pro128Ala) c.159-12910C>G c.67C>G (p.Pro23Ala) | |
| X | g.23379621C>T | CA412579592 | PTCHD1 | c.382C>T (p.Pro128Ser) c.159-12910C>T c.67C>T (p.Pro23Ser) | COSMIC COSMIC |
| X | g.23379622C>A | CA412579593 | PTCHD1 | c.383C>A (p.Pro128Gln) c.159-12909C>A c.68C>A (p.Pro23Gln) | |
| X | g.23379622C>G | CA412579594 | PTCHD1 | c.383C>G (p.Pro128Arg) c.159-12909C>G c.68C>G (p.Pro23Arg) | |
| X | g.23379622C>T | CA412579595 | PTCHD1 | c.383C>T (p.Pro128Leu) c.159-12909C>T c.68C>T (p.Pro23Leu) | |
| X | g.23379623A>C | CA515619332 | PTCHD1 | c.384A>C (p.Pro128=) c.159-12908A>C c.69A>C (p.Pro23=) | |
| X | g.23379623A>G | CA515619334 | PTCHD1 | c.384A>G (p.Pro128=) c.159-12908A>G c.69A>G (p.Pro23=) | |
| X | g.23379623A>T | CA515619333 | PTCHD1 | c.384A>T (p.Pro128=) c.159-12908A>T c.69A>T (p.Pro23=) | |
| X | g.23379624A>C | CA515619335 | PTCHD1 | c.385A>C (p.Arg129=) c.159-12907A>C c.70A>C (p.Arg24=) | |
| X | g.23379624A>G | CA412579596 | PTCHD1 | c.385A>G (p.Arg129Gly) c.159-12907A>G c.70A>G (p.Arg24Gly) | |
| X | g.23379624A>T | CA412579597 | PTCHD1 | c.385A>T (p.Arg129Trp) c.159-12907A>T c.70A>T (p.Arg24Trp) | |
| X | g.23379625G>A | CA412579599 | PTCHD1 | c.386G>A (p.Arg129Lys) c.159-12906G>A c.71G>A (p.Arg24Lys) | COSMIC COSMIC |
| X | g.23379625G>C | CA412579600 | PTCHD1 | c.386G>C (p.Arg129Thr) c.159-12906G>C c.71G>C (p.Arg24Thr) | |
| X | g.23379625G>T | CA412579598 | PTCHD1 | c.386G>T (p.Arg129Met) c.159-12906G>T c.71G>T (p.Arg24Met) | |
| X | g.23379625_23379626delinsAA | CA645601319 | PTCHD1 | c.386_387delinsAA (p.Arg129Lys) c.159-12906_159-12905delinsAA c.71_72delinsAA (p.Arg24Lys) | COSMIC |
| X | g.23379626G>A | CA515619338 | PTCHD1 | c.387G>A (p.Arg129=) c.159-12905G>A c.72G>A (p.Arg24=) | |
| X | g.23379626G>C | CA412579601 | PTCHD1 | c.387G>C (p.Arg129Ser) c.159-12905G>C c.72G>C (p.Arg24Ser) | |
| X | g.23379626G>T | CA412579602 | PTCHD1 | c.387G>T (p.Arg129Ser) c.159-12905G>T c.72G>T (p.Arg24Ser) | COSMIC COSMIC |
| X | g.23379627C>A | CA412579603 | PTCHD1 | c.388C>A (p.Pro130Thr) c.159-12904C>A c.73C>A (p.Pro25Thr) | |
| X | g.23379627C= | CA2419636287 | PTCHD1 | c.388C= (p.Pro130=) c.159-12904C= c.73C= (p.Pro25=) | |
| X | g.23379627C>G | CA412579604 | PTCHD1 | c.388C>G (p.Pro130Ala) c.159-12904C>G c.73C>G (p.Pro25Ala) | |
| X | g.23379627C>T | CA412579605 | PTCHD1 | c.388C>T (p.Pro130Ser) c.159-12904C>T c.73C>T (p.Pro25Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.23379628C>A | CA412579606 | PTCHD1 | c.389C>A (p.Pro130His) c.159-12903C>A c.74C>A (p.Pro25His) | |
| X | g.23379628C>G | CA412579607 | PTCHD1 | c.389C>G (p.Pro130Arg) c.159-12903C>G c.74C>G (p.Pro25Arg) | |
| X | g.23379628C>T | CA412579608 | PTCHD1 | c.389C>T (p.Pro130Leu) c.159-12903C>T c.74C>T (p.Pro25Leu) | |
| X | g.23379629T>A | CA515619343 | PTCHD1 | c.390T>A (p.Pro130=) c.159-12902T>A c.75T>A (p.Pro25=) | |
| X | g.23379629T>C | CA515619344 | PTCHD1 | c.390T>C (p.Pro130=) c.159-12902T>C c.75T>C (p.Pro25=) | |
| X | g.23379629T>G | CA515619345 | PTCHD1 | c.390T>G (p.Pro130=) c.159-12902T>G c.75T>G (p.Pro25=) | |
| X | g.23379630G>A | CA412579609 | PTCHD1 | c.391G>A (p.Gly131Ser) c.159-12901G>A c.76G>A (p.Gly26Ser) | |
| X | g.23379630G>C | CA412579610 | PTCHD1 | c.391G>C (p.Gly131Arg) c.159-12901G>C c.76G>C (p.Gly26Arg) | |
| X | g.23379630G>T | CA412579611 | PTCHD1 | c.391G>T (p.Gly131Cys) c.159-12901G>T c.76G>T (p.Gly26Cys) | |
| X | g.23379631G>A | CA412579613 | PTCHD1 | c.392G>A (p.Gly131Asp) c.159-12900G>A c.77G>A (p.Gly26Asp) | dbSNP |
| X | g.23379631G>C | CA412579614 | PTCHD1 | c.392G>C (p.Gly131Ala) c.159-12900G>C c.77G>C (p.Gly26Ala) | |
| X | g.23379631G= | CA2419636288 | PTCHD1 | c.392G= (p.Gly131=) c.159-12900G= c.77G= (p.Gly26=) | |
| X | g.23379631G>T | CA412579612 | PTCHD1 | c.392G>T (p.Gly131Val) c.159-12900G>T c.77G>T (p.Gly26Val) | |
| X | g.23379632T>A | CA515619349 | PTCHD1 | c.393T>A (p.Gly131=) c.159-12899T>A c.78T>A (p.Gly26=) | |
| X | g.23379632T>C | CA515619350 | PTCHD1 | c.393T>C (p.Gly131=) c.159-12899T>C c.78T>C (p.Gly26=) | |
| X | g.23379632T>G | CA515619351 | PTCHD1 | c.393T>G (p.Gly131=) c.159-12899T>G c.78T>G (p.Gly26=) | |
| X | g.23379633T>A | CA412579615 | PTCHD1 | c.394T>A (p.Phe132Ile) c.159-12898T>A c.79T>A (p.Phe27Ile) | |
| X | g.23379633T>C | CA412579616 | PTCHD1 | c.394T>C (p.Phe132Leu) c.159-12898T>C c.79T>C (p.Phe27Leu) | |
| X | g.23379633T>G | CA412579617 | PTCHD1 | c.394T>G (p.Phe132Val) c.159-12898T>G c.79T>G (p.Phe27Val) | |
| X | g.23379634T>A | CA412579618 | PTCHD1 | c.395T>A (p.Phe132Tyr) c.159-12897T>A c.80T>A (p.Phe27Tyr) | |
| X | g.23379634T>C | CA412579619 | PTCHD1 | c.395T>C (p.Phe132Ser) c.159-12897T>C c.80T>C (p.Phe27Ser) | |
| X | g.23379634T>G | CA412579620 | PTCHD1 | c.395T>G (p.Phe132Cys) c.159-12897T>G c.80T>G (p.Phe27Cys) | |
| X | g.23379635T>A | CA412579621 | PTCHD1 | c.396T>A (p.Phe132Leu) c.159-12896T>A c.81T>A (p.Phe27Leu) | dbSNP |
| X | g.23379635T>C | CA515619357 | PTCHD1 | c.396T>C (p.Phe132=) c.159-12896T>C c.81T>C (p.Phe27=) | |
| X | g.23379635T>G | CA10369026 | PTCHD1 | c.396T>G (p.Phe132Leu) c.159-12896T>G c.81T>G (p.Phe27Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.23379635T= | CA2419636289 | PTCHD1 | c.396T= (p.Phe132=) c.159-12896T= c.81T= (p.Phe27=) | |
| X | g.23379636A>C | CA412579622 | PTCHD1 | c.397A>C (p.Asn133His) c.159-12895A>C c.82A>C (p.Asn28His) | |
| X | g.23379636A>G | CA412579623 | PTCHD1 | c.397A>G (p.Asn133Asp) c.159-12895A>G c.82A>G (p.Asn28Asp) | |
| X | g.23379636A>T | CA412579624 | PTCHD1 | c.397A>T (p.Asn133Tyr) c.159-12895A>T c.82A>T (p.Asn28Tyr) | |
| X | g.23379637A>C | CA412579625 | PTCHD1 | c.398A>C (p.Asn133Thr) c.159-12894A>C c.83A>C (p.Asn28Thr) | |
| X | g.23379637A>G | CA412579626 | PTCHD1 | c.398A>G (p.Asn133Ser) c.159-12894A>G c.83A>G (p.Asn28Ser) | |
| X | g.23379637A>T | CA412579627 | PTCHD1 | c.398A>T (p.Asn133Ile) c.159-12894A>T c.83A>T (p.Asn28Ile) | |
| X | g.23379638T>A | CA412579629 | PTCHD1 | c.399T>A (p.Asn133Lys) c.159-12893T>A c.84T>A (p.Asn28Lys) | |
| X | g.23379638T>C | CA515619361 | PTCHD1 | c.399T>C (p.Asn133=) c.159-12893T>C c.84T>C (p.Asn28=) | |
| X | g.23379638T>G | CA412579628 | PTCHD1 | c.399T>G (p.Asn133Lys) c.159-12893T>G c.84T>G (p.Asn28Lys) | |
| X | g.23379639T>A | CA412579630 | PTCHD1 | c.400T>A (p.Tyr134Asn) c.159-12892T>A c.85T>A (p.Tyr29Asn) | |
| X | g.23379639T>C | CA412579631 | PTCHD1 | c.400T>C (p.Tyr134His) c.159-12892T>C c.85T>C (p.Tyr29His) | |
| X | g.23379639T>G | CA412579632 | PTCHD1 | c.400T>G (p.Tyr134Asp) c.159-12892T>G c.85T>G (p.Tyr29Asp) | |
| X | g.23379640A>C | CA412579633 | PTCHD1 | c.401A>C (p.Tyr134Ser) c.159-12891A>C c.86A>C (p.Tyr29Ser) | |
| X | g.23379640A>G | CA412579634 | PTCHD1 | c.401A>G (p.Tyr134Cys) c.159-12891A>G c.86A>G (p.Tyr29Cys) | |
| X | g.23379640A>T | CA412579635 | PTCHD1 | c.401A>T (p.Tyr134Phe) c.159-12891A>T c.86A>T (p.Tyr29Phe) | |
| X | g.23379641C>A | CA412579636 | PTCHD1 | c.402C>A (p.Tyr134Ter) c.159-12890C>A c.87C>A (p.Tyr29Ter) | |
| X | g.23379641C>G | CA412579637 | PTCHD1 | c.402C>G (p.Tyr134Ter) c.159-12890C>G c.87C>G (p.Tyr29Ter) | |
| X | g.23379641C>T | CA515619364 | PTCHD1 | c.402C>T (p.Tyr134=) c.159-12890C>T c.87C>T (p.Tyr29=) | |
| X | g.23379642A= | CA2419636290 | PTCHD1 | c.403A= (p.Thr135=) c.159-12889A= c.88A= (p.Thr30=) | |
| X | g.23379642A>C | CA412579638 | PTCHD1 | c.403A>C (p.Thr135Pro) c.159-12889A>C c.88A>C (p.Thr30Pro) | |
| X | g.23379642A>G | CA412579640 | PTCHD1 | c.403A>G (p.Thr135Ala) c.159-12889A>G c.88A>G (p.Thr30Ala) | |
| X | g.23379642A>T | CA412579639 | PTCHD1 | c.403A>T (p.Thr135Ser) c.159-12889A>T c.88A>T (p.Thr30Ser) | dbSNP |
| X | g.23379643C>A | CA412579641 | PTCHD1 | c.404C>A (p.Thr135Lys) c.159-12888C>A c.89C>A (p.Thr30Lys) | |
| X | g.23379643C>G | CA412579642 | PTCHD1 | c.404C>G (p.Thr135Arg) c.159-12888C>G c.89C>G (p.Thr30Arg) | |
| X | g.23379643C>T | CA412579643 | PTCHD1 | c.404C>T (p.Thr135Met) c.159-12888C>T c.89C>T (p.Thr30Met) | gnomAD v4 |
| X | g.23379644G>A | CA10369027 | PTCHD1 | c.405G>A (p.Thr135=) c.159-12887G>A c.90G>A (p.Thr30=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.23379644G>C | CA515619368 | PTCHD1 | c.405G>C (p.Thr135=) c.159-12887G>C c.90G>C (p.Thr30=) | gnomAD v4 |
| X | g.23379644G= | CA2419636291 | PTCHD1 | c.405G= (p.Thr135=) c.159-12887G= c.90G= (p.Thr30=) | |
| X | g.23379644G>T | CA515619369 | PTCHD1 | c.405G>T (p.Thr135=) c.159-12887G>T c.90G>T (p.Thr30=) | |
| X | g.23379645T>A | CA412579644 | PTCHD1 | c.406T>A (p.Phe136Ile) c.159-12886T>A c.91T>A (p.Phe31Ile) | |
| X | g.23379645T>C | CA412579646 | PTCHD1 | c.406T>C (p.Phe136Leu) c.159-12886T>C c.91T>C (p.Phe31Leu) | |
| X | g.23379645T>G | CA412579645 | PTCHD1 | c.406T>G (p.Phe136Val) c.159-12886T>G c.91T>G (p.Phe31Val) | |
| X | g.23379646T>A | CA412579647 | PTCHD1 | c.407T>A (p.Phe136Tyr) c.159-12885T>A c.92T>A (p.Phe31Tyr) | |
| X | g.23379646T>C | CA412579648 | PTCHD1 | c.407T>C (p.Phe136Ser) c.159-12885T>C c.92T>C (p.Phe31Ser) | |
| X | g.23379646T>G | CA412579649 | PTCHD1 | c.407T>G (p.Phe136Cys) c.159-12885T>G c.92T>G (p.Phe31Cys) | |
| X | g.23379647T>A | CA412579650 | PTCHD1 | c.408T>A (p.Phe136Leu) c.159-12884T>A c.93T>A (p.Phe31Leu) | |
| X | g.23379647T>C | CA515619374 | PTCHD1 | c.408T>C (p.Phe136=) c.159-12884T>C c.93T>C (p.Phe31=) | |
| X | g.23379647T>G | CA412579651 | PTCHD1 | c.408T>G (p.Phe136Leu) c.159-12884T>G c.93T>G (p.Phe31Leu) | |
| X | g.23379648G>A | CA412579652 | PTCHD1 | c.409G>A (p.Ala137Thr) c.159-12883G>A c.94G>A (p.Ala32Thr) | |
| X | g.23379648G>C | CA412579653 | PTCHD1 | c.409G>C (p.Ala137Pro) c.159-12883G>C c.94G>C (p.Ala32Pro) | |
| X | g.23379648G>T | CA412579654 | PTCHD1 | c.409G>T (p.Ala137Ser) c.159-12883G>T c.94G>T (p.Ala32Ser) | |
| X | g.23379649C>A | CA412579655 | PTCHD1 | c.410C>A (p.Ala137Asp) c.159-12882C>A c.95C>A (p.Ala32Asp) | |
| X | g.23379649C>G | CA412579656 | PTCHD1 | c.410C>G (p.Ala137Gly) c.159-12882C>G c.95C>G (p.Ala32Gly) | |
| X | g.23379649C>T | CA412579657 | PTCHD1 | c.410C>T (p.Ala137Val) c.159-12882C>T c.95C>T (p.Ala32Val) | |
| X | g.23379650C>A | CA515619378 | PTCHD1 | c.411C>A (p.Ala137=) c.159-12881C>A c.96C>A (p.Ala32=) | |
| X | g.23379650C= | CA2419636292 | PTCHD1 | c.411C= (p.Ala137=) c.159-12881C= c.96C= (p.Ala32=) | |
| X | g.23379650C>G | CA515619380 | PTCHD1 | c.411C>G (p.Ala137=) c.159-12881C>G c.96C>G (p.Ala32=) | |
| X | g.23379650C>T | CA10369028 | PTCHD1 | c.411C>T (p.Ala137=) c.159-12881C>T c.96C>T (p.Ala32=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.23379651C>A | CA412579660 | PTCHD1 | c.412C>A (p.His138Asn) c.159-12880C>A c.97C>A (p.His33Asn) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.23379651C= | CA2419636293 | PTCHD1 | c.412C= (p.His138=) c.159-12880C= c.97C= (p.His33=) | |
| X | g.23379651C>G | CA412579658 | PTCHD1 | c.412C>G (p.His138Asp) c.159-12880C>G c.97C>G (p.His33Asp) | |
| X | g.23379651C>T | CA412579659 | PTCHD1 | c.412C>T (p.His138Tyr) c.159-12880C>T c.97C>T (p.His33Tyr) | |
| X | g.23379652A>C | CA412579661 | PTCHD1 | c.413A>C (p.His138Pro) c.159-12879A>C c.98A>C (p.His33Pro) | |
| X | g.23379652A>G | CA412579662 | PTCHD1 | c.413A>G (p.His138Arg) c.159-12879A>G c.98A>G (p.His33Arg) | |
| X | g.23379652A>T | CA412579663 | PTCHD1 | c.413A>T (p.His138Leu) c.159-12879A>T c.98A>T (p.His33Leu) | |
| X | g.23379653T>A | CA412579664 | PTCHD1 | c.414T>A (p.His138Gln) c.159-12878T>A c.99T>A (p.His33Gln) | |
| X | g.23379653T>C | CA515619381 | PTCHD1 | c.414T>C (p.His138=) c.159-12878T>C c.99T>C (p.His33=) | gnomAD v4 |
| X | g.23379653T>G | CA412579665 | PTCHD1 | c.414T>G (p.His138Gln) c.159-12878T>G c.99T>G (p.His33Gln) | |
| X | g.23379654A>C | CA412579666 | PTCHD1 | c.415A>C (p.Ile139Leu) c.159-12877A>C c.100A>C (p.Ile34Leu) | |
| X | g.23379654A>G | CA412579667 | PTCHD1 | c.415A>G (p.Ile139Val) c.159-12877A>G c.100A>G (p.Ile34Val) | |
| X | g.23379654A>T | CA412579668 | PTCHD1 | c.415A>T (p.Ile139Leu) c.159-12877A>T c.100A>T (p.Ile34Leu) | |
| X | g.23379655T>A | CA412579669 | PTCHD1 | c.416T>A (p.Ile139Lys) c.159-12876T>A c.101T>A (p.Ile34Lys) | |
| X | g.23379655T>C | CA412579671 | PTCHD1 | c.416T>C (p.Ile139Thr) c.159-12876T>C c.101T>C (p.Ile34Thr) | COSMIC COSMIC |
| X | g.23379655T>G | CA412579670 | PTCHD1 | c.416T>G (p.Ile139Arg) c.159-12876T>G c.101T>G (p.Ile34Arg) | |
| X | g.23379656A>C | CA515619385 | PTCHD1 | c.417A>C (p.Ile139=) c.159-12875A>C c.102A>C (p.Ile34=) | |
| X | g.23379656A>G | CA412579672 | PTCHD1 | c.417A>G (p.Ile139Met) c.159-12875A>G c.102A>G (p.Ile34Met) | |
| X | g.23379656A>T | CA515619386 | PTCHD1 | c.417A>T (p.Ile139=) c.159-12875A>T c.102A>T (p.Ile34=) | |
| X | g.23379657T>A | CA412579673 | PTCHD1 | c.418T>A (p.Cys140Ser) c.159-12874T>A c.103T>A (p.Cys35Ser) | |
| X | g.23379657T>C | CA412579674 | PTCHD1 | c.418T>C (p.Cys140Arg) c.159-12874T>C c.103T>C (p.Cys35Arg) | |
| X | g.23379657T>G | CA412579675 | PTCHD1 | c.418T>G (p.Cys140Gly) c.159-12874T>G c.103T>G (p.Cys35Gly) | |
| X | g.23379658G>A | CA412579676 | PTCHD1 | c.419G>A (p.Cys140Tyr) c.159-12873G>A c.104G>A (p.Cys35Tyr) | |
| X | g.23379658G>C | CA412579678 | PTCHD1 | c.419G>C (p.Cys140Ser) c.159-12873G>C c.104G>C (p.Cys35Ser) | |
| X | g.23379658G>T | CA412579677 | PTCHD1 | c.419G>T (p.Cys140Phe) c.159-12873G>T c.104G>T (p.Cys35Phe) | |
| X | g.23379659T>A | CA412579679 | PTCHD1 | c.420T>A (p.Cys140Ter) c.159-12872T>A c.105T>A (p.Cys35Ter) | |
| X | g.23379659T>C | CA515619393 | PTCHD1 | c.420T>C (p.Cys140=) c.159-12872T>C c.105T>C (p.Cys35=) | |
| X | g.23379659T>G | CA412579680 | PTCHD1 | c.420T>G (p.Cys140Trp) c.159-12872T>G c.105T>G (p.Cys35Trp) | |
| X | g.23379660A>C | CA412579681 | PTCHD1 | c.421A>C (p.Ile141Leu) c.159-12871A>C c.106A>C (p.Ile36Leu) | |
| X | g.23379660A>G | CA412579682 | PTCHD1 | c.421A>G (p.Ile141Val) c.159-12871A>G c.106A>G (p.Ile36Val) | |
| X | g.23379660A>T | CA412579683 | PTCHD1 | c.421A>T (p.Ile141Phe) c.159-12871A>T c.106A>T (p.Ile36Phe) | |
| X | g.23379661T>A | CA412579684 | PTCHD1 | c.422T>A (p.Ile141Asn) c.159-12870T>A c.107T>A (p.Ile36Asn) | |
| X | g.23379661T>C | CA412579685 | PTCHD1 | c.422T>C (p.Ile141Thr) c.159-12870T>C c.107T>C (p.Ile36Thr) | COSMIC COSMIC |
| X | g.23379661T>G | CA412579686 | PTCHD1 | c.422T>G (p.Ile141Ser) c.159-12870T>G c.107T>G (p.Ile36Ser) | |
| X | g.23379662C>A | CA515619394 | PTCHD1 | c.423C>A (p.Ile141=) c.159-12869C>A c.108C>A (p.Ile36=) | |
| X | g.23379662C>G | CA412579687 | PTCHD1 | c.423C>G (p.Ile141Met) c.159-12869C>G c.108C>G (p.Ile36Met) | |
| X | g.23379662C>T | CA515619397 | PTCHD1 | c.423C>T (p.Ile141=) c.159-12869C>T c.108C>T (p.Ile36=) | |
| X | g.23379663C>A | CA412579688 | PTCHD1 | c.424C>A (p.Leu142Met) c.159-12868C>A c.109C>A (p.Leu37Met) | |
| X | g.23379663C>G | CA412579689 | PTCHD1 | c.424C>G (p.Leu142Val) c.159-12868C>G c.109C>G (p.Leu37Val) | |
| X | g.23379663C>T | CA515619443 | PTCHD1 | c.424C>T (p.Leu142=) c.159-12868C>T c.109C>T (p.Leu37=) | |
| X | g.23379664T>A | CA412579690 | PTCHD1 | c.425T>A (p.Leu142Gln) c.159-12867T>A c.110T>A (p.Leu37Gln) | |
| X | g.23379664T>C | CA412579692 | PTCHD1 | c.425T>C (p.Leu142Pro) c.159-12867T>C c.110T>C (p.Leu37Pro) | |
| X | g.23379664T>G | CA412579691 | PTCHD1 | c.425T>G (p.Leu142Arg) c.159-12867T>G c.110T>G (p.Leu37Arg) | |
| X | g.23379665G>A | CA515619445 | PTCHD1 | c.426G>A (p.Leu142=) c.159-12866G>A c.111G>A (p.Leu37=) | |
| X | g.23379665G>C | CA515619446 | PTCHD1 | c.426G>C (p.Leu142=) c.159-12866G>C c.111G>C (p.Leu37=) | |
| X | g.23379665G>T | CA515619448 | PTCHD1 | c.426G>T (p.Leu142=) c.159-12866G>T c.111G>T (p.Leu37=) | |
| X | g.23379666A>C | CA412579693 | PTCHD1 | c.427A>C (p.Asn143His) c.159-12865A>C c.112A>C (p.Asn38His) | |
| X | g.23379666A>G | CA412579695 | PTCHD1 | c.427A>G (p.Asn143Asp) c.159-12865A>G c.112A>G (p.Asn38Asp) | |
| X | g.23379666A>T | CA412579694 | PTCHD1 | c.427A>T (p.Asn143Tyr) c.159-12865A>T c.112A>T (p.Asn38Tyr) | |
| X | g.23379667A= | CA2419636294 | PTCHD1 | c.428A= (p.Asn143=) c.159-12864A= c.113A= (p.Asn38=) | |
| X | g.23379667A>C | CA412579696 | PTCHD1 | c.428A>C (p.Asn143Thr) c.159-12864A>C c.113A>C (p.Asn38Thr) | |
| X | g.23379667A>G | CA412579697 | PTCHD1 | c.428A>G (p.Asn143Ser) c.159-12864A>G c.113A>G (p.Asn38Ser) | dbSNP gnomAD v4 |
| X | g.23379667A>T | CA412579698 | PTCHD1 | c.428A>T (p.Asn143Ile) c.159-12864A>T c.113A>T (p.Asn38Ile) | |
| X | g.23379668T>A | CA412579699 | PTCHD1 | c.429T>A (p.Asn143Lys) c.159-12863T>A c.114T>A (p.Asn38Lys) | |
| X | g.23379668T>C | CA515619450 | PTCHD1 | c.429T>C (p.Asn143=) c.159-12863T>C c.114T>C (p.Asn38=) | |
| X | g.23379668T>G | CA412579700 | PTCHD1 | c.429T>G (p.Asn143Lys) c.159-12863T>G c.114T>G (p.Asn38Lys) | |
| X | g.23379669A>C | CA412579701 | PTCHD1 | c.430A>C (p.Asn144His) c.159-12862A>C c.115A>C (p.Asn39His) | |
| X | g.23379669A>G | CA412579702 | PTCHD1 | c.430A>G (p.Asn144Asp) c.159-12862A>G c.115A>G (p.Asn39Asp) | |
| X | g.23379669A>T | CA412579703 | PTCHD1 | c.430A>T (p.Asn144Tyr) c.159-12862A>T c.115A>T (p.Asn39Tyr) | |
| X | g.23379670A>C | CA412579704 | PTCHD1 | c.431A>C (p.Asn144Thr) c.159-12861A>C c.116A>C (p.Asn39Thr) | |
| X | g.23379670A>G | CA412579705 | PTCHD1 | c.431A>G (p.Asn144Ser) c.159-12861A>G c.116A>G (p.Asn39Ser) | |
| X | g.23379670A>T | CA412579706 | PTCHD1 | c.431A>T (p.Asn144Ile) c.159-12861A>T c.116A>T (p.Asn39Ile) | |
| X | g.23379671T>A | CA412579707 | PTCHD1 | c.432T>A (p.Asn144Lys) c.159-12860T>A c.117T>A (p.Asn39Lys) | dbSNP |
| X | g.23379671T>C | CA515619452 | PTCHD1 | c.432T>C (p.Asn144=) c.159-12860T>C c.117T>C (p.Asn39=) | |
| X | g.23379671T>G | CA412579708 | PTCHD1 | c.432T>G (p.Asn144Lys) c.159-12860T>G c.117T>G (p.Asn39Lys) | |
| X | g.23379671T= | CA2419636295 | PTCHD1 | c.432T= (p.Asn144=) c.159-12860T= c.117T= (p.Asn39=) | |
| X | g.23379672G>A | CA412579709 | PTCHD1 | c.433G>A (p.Asp145Asn) c.159-12859G>A c.118G>A (p.Asp40Asn) | |
| X | g.23379672G>C | CA412579711 | PTCHD1 | c.433G>C (p.Asp145His) c.159-12859G>C c.118G>C (p.Asp40His) | |
| X | g.23379672G>T | CA412579710 | PTCHD1 | c.433G>T (p.Asp145Tyr) c.159-12859G>T c.118G>T (p.Asp40Tyr) | |
| X | g.23379673A>C | CA412579712 | PTCHD1 | c.434A>C (p.Asp145Ala) c.159-12858A>C c.119A>C (p.Asp40Ala) | |
| X | g.23379673A>G | CA412579713 | PTCHD1 | c.434A>G (p.Asp145Gly) c.159-12858A>G c.119A>G (p.Asp40Gly) | |
| X | g.23379673A>T | CA412579714 | PTCHD1 | c.434A>T (p.Asp145Val) c.159-12858A>T c.119A>T (p.Asp40Val) | |
| X | g.23379674T>A | CA412579715 | PTCHD1 | c.435T>A (p.Asp145Glu) c.159-12857T>A c.120T>A (p.Asp40Glu) | |
| X | g.23379674T>C | CA10369029 | PTCHD1 | c.435T>C (p.Asp145=) c.159-12857T>C c.120T>C (p.Asp40=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.23379674T>G | CA412579716 | PTCHD1 | c.435T>G (p.Asp145Glu) c.159-12857T>G c.120T>G (p.Asp40Glu) | |
| X | g.23379674T= | CA2419636296 | PTCHD1 | c.435T= (p.Asp145=) c.159-12857T= c.120T= (p.Asp40=) | |
| X | g.23379675A>C | CA412579717 | PTCHD1 | c.436A>C (p.Lys146Gln) c.159-12856A>C c.121A>C (p.Lys41Gln) | |
| X | g.23379675A>G | CA412579718 | PTCHD1 | c.436A>G (p.Lys146Glu) c.159-12856A>G c.121A>G (p.Lys41Glu) | |
| X | g.23379675A>T | CA412579719 | PTCHD1 | c.436A>T (p.Lys146Ter) c.159-12856A>T c.121A>T (p.Lys41Ter) | |
| X | g.23379676A>C | CA412579722 | PTCHD1 | c.437A>C (p.Lys146Thr) c.159-12855A>C c.122A>C (p.Lys41Thr) | gnomAD v4 |
| X | g.23379676A>G | CA412579721 | PTCHD1 | c.437A>G (p.Lys146Arg) c.159-12855A>G c.122A>G (p.Lys41Arg) | |
| X | g.23379676A>T | CA412579720 | PTCHD1 | c.437A>T (p.Lys146Met) c.159-12855A>T c.122A>T (p.Lys41Met) | |
| X | g.23379677G>A | CA515619459 | PTCHD1 | c.438G>A (p.Lys146=) c.159-12854G>A c.123G>A (p.Lys41=) | |
| X | g.23379677G>C | CA412579723 | PTCHD1 | c.438G>C (p.Lys146Asn) c.159-12854G>C c.123G>C (p.Lys41Asn) | gnomAD v4 COSMIC COSMIC |
| X | g.23379677G>T | CA412579724 | PTCHD1 | c.438G>T (p.Lys146Asn) c.159-12854G>T c.123G>T (p.Lys41Asn) | |
| X | g.23379678A>C | CA412579725 | PTCHD1 | c.439A>C (p.Thr147Pro) c.159-12853A>C c.124A>C (p.Thr42Pro) | |
| X | g.23379678A>G | CA412579726 | PTCHD1 | c.439A>G (p.Thr147Ala) c.159-12853A>G c.124A>G (p.Thr42Ala) | |
| X | g.23379678A>T | CA412579727 | PTCHD1 | c.439A>T (p.Thr147Ser) c.159-12853A>T c.124A>T (p.Thr42Ser) | |
| X | g.23379679C>A | CA412579728 | PTCHD1 | c.440C>A (p.Thr147Asn) c.159-12852C>A c.125C>A (p.Thr42Asn) | |
| X | g.23379679C= | CA2419636297 | PTCHD1 | c.440C= (p.Thr147=) c.159-12852C= c.125C= (p.Thr42=) | |
| X | g.23379679C>G | CA412579729 | PTCHD1 | c.440C>G (p.Thr147Ser) c.159-12852C>G c.125C>G (p.Thr42Ser) | |
| X | g.23379679C>T | CA412579730 | PTCHD1 | c.440C>T (p.Thr147Ile) c.159-12852C>T c.125C>T (p.Thr42Ile) | dbSNP |
| X | g.23379680T>A | CA515619464 | PTCHD1 | c.441T>A (p.Thr147=) c.159-12851T>A c.126T>A (p.Thr42=) | |
| X | g.23379680T>C | CA515619465 | PTCHD1 | c.441T>C (p.Thr147=) c.159-12851T>C c.126T>C (p.Thr42=) | |
| X | g.23379680T>G | CA515619463 | PTCHD1 | c.441T>G (p.Thr147=) c.159-12851T>G c.126T>G (p.Thr42=) | |
| X | g.23379681T>A | CA412579731 | PTCHD1 | c.442T>A (p.Cys148Ser) c.159-12850T>A c.127T>A (p.Cys43Ser) | |
| X | g.23379681T>C | CA412579732 | PTCHD1 | c.442T>C (p.Cys148Arg) c.159-12850T>C c.127T>C (p.Cys43Arg) | |
| X | g.23379681T>G | CA412579733 | PTCHD1 | c.442T>G (p.Cys148Gly) c.159-12850T>G c.127T>G (p.Cys43Gly) | |
| X | g.23379682G>A | CA412579734 | PTCHD1 | c.443G>A (p.Cys148Tyr) c.159-12849G>A c.128G>A (p.Cys43Tyr) | |
| X | g.23379682G>C | CA412579735 | PTCHD1 | c.443G>C (p.Cys148Ser) c.159-12849G>C c.128G>C (p.Cys43Ser) | |
| X | g.23379682G>T | CA412579736 | PTCHD1 | c.443G>T (p.Cys148Phe) c.159-12849G>T c.128G>T (p.Cys43Phe) | |
| X | g.23379683C>A | CA412579737 | PTCHD1 | c.444C>A (p.Cys148Ter) c.159-12848C>A c.129C>A (p.Cys43Ter) | |
| X | g.23379683C>G | CA412579738 | PTCHD1 | c.444C>G (p.Cys148Trp) c.159-12848C>G c.129C>G (p.Cys43Trp) | |
| X | g.23379683C>T | CA515619466 | PTCHD1 | c.444C>T (p.Cys148=) c.159-12848C>T c.129C>T (p.Cys43=) | |
| X | g.23379684A= | CA2419636298 | PTCHD1 | c.445A= (p.Ile149=) c.159-12847A= c.130A= (p.Ile44=) | |
| X | g.23379684A>C | CA10369030 | PTCHD1 | c.445A>C (p.Ile149Leu) c.159-12847A>C c.130A>C (p.Ile44Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.23379684A>G | CA412579739 | PTCHD1 | c.445A>G (p.Ile149Val) c.159-12847A>G c.130A>G (p.Ile44Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.23379684A>T | CA412579740 | PTCHD1 | c.445A>T (p.Ile149Phe) c.159-12847A>T c.130A>T (p.Ile44Phe) | gnomAD v4 |
| X | g.23379685T>A | CA412579741 | PTCHD1 | c.446T>A (p.Ile149Asn) c.159-12846T>A c.131T>A (p.Ile44Asn) | |
| X | g.23379685T>C | CA412579742 | PTCHD1 | c.446T>C (p.Ile149Thr) c.159-12846T>C c.131T>C (p.Ile44Thr) | |
| X | g.23379685T>G | CA412579743 | PTCHD1 | c.446T>G (p.Ile149Ser) c.159-12846T>G c.131T>G (p.Ile44Ser) | |
| X | g.23379686C>A | CA10369031 | PTCHD1 | c.447C>A (p.Ile149=) c.159-12845C>A c.132C>A (p.Ile44=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.23379686C= | CA2419636299 | PTCHD1 | c.447C= (p.Ile149=) c.159-12845C= c.132C= (p.Ile44=) | |
| X | g.23379686C>G | CA412579744 | PTCHD1 | c.447C>G (p.Ile149Met) c.159-12845C>G c.132C>G (p.Ile44Met) | |
| X | g.23379686C>T | CA10369032 | PTCHD1 | c.447C>T (p.Ile149=) c.159-12845C>T c.132C>T (p.Ile44=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.23379687G>A | CA10369033 | PTCHD1 | c.448G>A (p.Val150Met) c.159-12844G>A c.133G>A (p.Val45Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.23379687G>C | CA412579745 | PTCHD1 | c.448G>C (p.Val150Leu) c.159-12844G>C c.133G>C (p.Val45Leu) | |
| X | g.23379687G= | CA2419636300 | PTCHD1 | c.448G= (p.Val150=) c.159-12844G= c.133G= (p.Val45=) | |
| X | g.23379687G>T | CA412579746 | PTCHD1 | c.448G>T (p.Val150Leu) c.159-12844G>T c.133G>T (p.Val45Leu) | |
| X | g.23379688T>A | CA412579748 | PTCHD1 | c.449T>A (p.Val150Glu) c.159-12843T>A c.134T>A (p.Val45Glu) | |
| X | g.23379688T>C | CA412579749 | PTCHD1 | c.449T>C (p.Val150Ala) c.159-12843T>C c.134T>C (p.Val45Ala) | |
| X | g.23379688T>G | CA412579747 | PTCHD1 | c.449T>G (p.Val150Gly) c.159-12843T>G c.134T>G (p.Val45Gly) | |
| X | g.23379689G>A | CA515619474 | PTCHD1 | c.450G>A (p.Val150=) c.159-12842G>A c.135G>A (p.Val45=) | gnomAD v4 |
| X | g.23379689G>C | CA515619475 | PTCHD1 | c.450G>C (p.Val150=) c.159-12842G>C c.135G>C (p.Val45=) | |
| X | g.23379689G>T | CA515619476 | PTCHD1 | c.450G>T (p.Val150=) c.159-12842G>T c.135G>T (p.Val45=) | gnomAD v4 |