| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.91273478_91273500dup | CA7308693 | CCDC88C | c.5212_5234dup (p.Lys1746ProfsTer8) c.784_806dup (p.Lys270ProfsTer8) n.1024_1046dup c.1440_1462dup c.5104_5126dup (p.Lys1710ProfsTer8) n.5487_5509dup c.2293_2315dup (p.Lys773ProfsTer8) n.5485_5507dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273485T>A | CA390610616 | CCDC88C | c.5227A>T (p.Arg1743Trp) c.799A>T (p.Arg267Trp) n.1039A>T c.1455A>T c.5119A>T (p.Arg1707Trp) n.5502A>T c.2308A>T (p.Arg770Trp) n.5500A>T | gnomAD v4 |
| 14 | g.91273485T>C | CA390610617 | CCDC88C | c.5227A>G (p.Arg1743Gly) c.799A>G (p.Arg267Gly) n.1039A>G c.1455A>G c.5119A>G (p.Arg1707Gly) n.5502A>G c.2308A>G (p.Arg770Gly) n.5500A>G | gnomAD v4 |
| 14 | g.91273485T>G | CA487829299 | CCDC88C | c.5227A>C (p.Arg1743=) c.799A>C (p.Arg267=) n.1039A>C c.1455A>C c.5119A>C (p.Arg1707=) n.5502A>C c.2308A>C (p.Arg770=) n.5500A>C | |
| 14 | g.91273485_91273486delinsTC | CA2154902501 | CCDC88C | c.5226_5227delinsGA (p.Gly1742=) c.798_799delinsGA (p.Gly266=) n.1038_1039delinsGA c.1454_1455delinsGA c.5118_5119delinsGA (p.Gly1706=) n.5501_5502delinsGA c.2307_2308delinsGA (p.Gly769=) n.5499_5500delinsGA | |
| 14 | g.91273486C>A | CA487829300 | CCDC88C | c.5226G>T (p.Gly1742=) c.798G>T (p.Gly266=) n.1038G>T c.1454G>T c.5118G>T (p.Gly1706=) n.5501G>T c.2307G>T (p.Gly769=) n.5499G>T | gnomAD v4 |
| 14 | g.91273486C>G | CA487829301 | CCDC88C | c.5226G>C (p.Gly1742=) c.798G>C (p.Gly266=) n.1038G>C c.1454G>C c.5118G>C (p.Gly1706=) n.5501G>C c.2307G>C (p.Gly769=) n.5499G>C | |
| 14 | g.91273486C>T | CA487829302 | CCDC88C | c.5226G>A (p.Gly1742=) c.798G>A (p.Gly266=) n.1038G>A c.1454G>A c.5118G>A (p.Gly1706=) n.5501G>A c.2307G>A (p.Gly769=) n.5499G>A | |
| 14 | g.91273489del | CA616112330 | CCDC88C | c.5226del (p.Arg1743GlyfsTer3) c.798del (p.Arg267GlyfsTer3) n.1038del c.1454del c.5118del (p.Arg1707GlyfsTer3) n.5501del c.2307del (p.Arg770GlyfsTer3) n.5499del | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273487C>A | CA390610618 | CCDC88C | c.5225G>T (p.Gly1742Val) c.797G>T (p.Gly266Val) n.1037G>T c.1453G>T c.5117G>T (p.Gly1706Val) n.5500G>T c.2306G>T (p.Gly769Val) n.5498G>T | gnomAD v4 |
| 14 | g.91273487C= | CA2154902508 | CCDC88C | c.5225G= (p.Gly1742=) c.797G= (p.Gly266=) n.1037G= c.1453G= c.5117G= (p.Gly1706=) n.5500G= c.2306G= (p.Gly769=) n.5498G= | |
| 14 | g.91273487C>G | CA390610619 | CCDC88C | c.5225G>C (p.Gly1742Ala) c.797G>C (p.Gly266Ala) n.1037G>C c.1453G>C c.5117G>C (p.Gly1706Ala) n.5500G>C c.2306G>C (p.Gly769Ala) n.5498G>C | |
| 14 | g.91273487C>T | CA7308697 | CCDC88C | c.5225G>A (p.Gly1742Glu) c.797G>A (p.Gly266Glu) n.1037G>A c.1453G>A c.5117G>A (p.Gly1706Glu) n.5500G>A c.2306G>A (p.Gly769Glu) n.5498G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.91273488C>A | CA390610620 | CCDC88C | c.5224G>T (p.Gly1742Trp) c.796G>T (p.Gly266Trp) n.1036G>T c.1452G>T c.5116G>T (p.Gly1706Trp) n.5499G>T c.2305G>T (p.Gly769Trp) n.5497G>T | gnomAD v4 |
| 14 | g.91273488C>G | CA390610621 | CCDC88C | c.5224G>C (p.Gly1742Arg) c.796G>C (p.Gly266Arg) n.1036G>C c.1452G>C c.5116G>C (p.Gly1706Arg) n.5499G>C c.2305G>C (p.Gly769Arg) n.5497G>C | |
| 14 | g.91273488C>T | CA390610622 | CCDC88C | c.5224G>A (p.Gly1742Arg) c.796G>A (p.Gly266Arg) n.1036G>A c.1452G>A c.5116G>A (p.Gly1706Arg) n.5499G>A c.2305G>A (p.Gly769Arg) n.5497G>A | |
| 14 | g.91273489C>A | CA390610624 | CCDC88C | c.5223G>T (p.Glu1741Asp) c.795G>T (p.Glu265Asp) n.1035G>T c.1451G>T c.5115G>T (p.Glu1705Asp) n.5498G>T c.2304G>T (p.Glu768Asp) n.5496G>T | gnomAD v4 |
| 14 | g.91273489C= | CA2154902515 | CCDC88C | c.5223G= (p.Glu1741=) c.795G= (p.Glu265=) n.1035G= c.1451G= c.5115G= (p.Glu1705=) n.5498G= c.2304G= (p.Glu768=) n.5496G= | |
| 14 | g.91273489C>G | CA390610623 | CCDC88C | c.5223G>C (p.Glu1741Asp) c.795G>C (p.Glu265Asp) n.1035G>C c.1451G>C c.5115G>C (p.Glu1705Asp) n.5498G>C c.2304G>C (p.Glu768Asp) n.5496G>C | gnomAD v4 |
| 14 | g.91273489C>T | CA7308698 | CCDC88C | c.5223G>A (p.Glu1741=) c.795G>A (p.Glu265=) n.1035G>A c.1451G>A c.5115G>A (p.Glu1705=) n.5498G>A c.2304G>A (p.Glu768=) n.5496G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273490del | CA2626123434 | CCDC88C | c.5222del (p.Glu1741GlyfsTer5) c.794del (p.Glu265GlyfsTer5) n.1034del c.1450del c.5114del (p.Glu1705GlyfsTer5) n.5497del c.2303del (p.Glu768GlyfsTer5) n.5495del | gnomAD v4 |
| 14 | g.91273490T>A | CA390610625 | CCDC88C | c.5222A>T (p.Glu1741Val) c.794A>T (p.Glu265Val) n.1034A>T c.1450A>T c.5114A>T (p.Glu1705Val) n.5497A>T c.2303A>T (p.Glu768Val) n.5495A>T | |
| 14 | g.91273490T>C | CA7308699 | CCDC88C | c.5222A>G (p.Glu1741Gly) c.794A>G (p.Glu265Gly) n.1034A>G c.1450A>G c.5114A>G (p.Glu1705Gly) n.5497A>G c.2303A>G (p.Glu768Gly) n.5495A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273490T>G | CA390610626 | CCDC88C | c.5222A>C (p.Glu1741Ala) c.794A>C (p.Glu265Ala) n.1034A>C c.1450A>C c.5114A>C (p.Glu1705Ala) n.5497A>C c.2303A>C (p.Glu768Ala) n.5495A>C | |
| 14 | g.91273490T= | CA2154902519 | CCDC88C | c.5222A= (p.Glu1741=) c.794A= (p.Glu265=) n.1034A= c.1450A= c.5114A= (p.Glu1705=) n.5497A= c.2303A= (p.Glu768=) n.5495A= | |
| 14 | g.91273491C>A | CA390610627 | CCDC88C | c.5221G>T (p.Glu1741Ter) c.793G>T (p.Glu265Ter) n.1033G>T c.1449G>T c.5113G>T (p.Glu1705Ter) n.5496G>T c.2302G>T (p.Glu768Ter) n.5494G>T | gnomAD v4 |
| 14 | g.91273491C>G | CA390610628 | CCDC88C | c.5221G>C (p.Glu1741Gln) c.793G>C (p.Glu265Gln) n.1033G>C c.1449G>C c.5113G>C (p.Glu1705Gln) n.5496G>C c.2302G>C (p.Glu768Gln) n.5494G>C | |
| 14 | g.91273491C>T | CA390610629 | CCDC88C | c.5221G>A (p.Glu1741Lys) c.793G>A (p.Glu265Lys) n.1033G>A c.1449G>A c.5113G>A (p.Glu1705Lys) n.5496G>A c.2302G>A (p.Glu768Lys) n.5494G>A | gnomAD v4 |
| 14 | g.91273491_91273492del | CA2626123435 | CCDC88C | c.5220_5221del (p.Glu1741GlyfsTer18) c.792_793del (p.Glu265GlyfsTer18) n.1032_1033del c.1448_1449del c.5112_5113del (p.Glu1705GlyfsTer18) n.5495_5496del c.2301_2302del (p.Glu768GlyfsTer18) n.5493_5494del | gnomAD v4 |
| 14 | g.91273492C>A | CA487829303 | CCDC88C | c.5220G>T (p.Ser1740=) c.792G>T (p.Ser264=) n.1032G>T c.1448G>T c.5112G>T (p.Ser1704=) n.5495G>T c.2301G>T (p.Ser767=) n.5493G>T | gnomAD v4 |
| 14 | g.91273492C= | CA2154902525 | CCDC88C | c.5220G= (p.Ser1740=) c.792G= (p.Ser264=) n.1032G= c.1448G= c.5112G= (p.Ser1704=) n.5495G= c.2301G= (p.Ser767=) n.5493G= | |
| 14 | g.91273492C>G | CA7308701 | CCDC88C | c.5220G>C (p.Ser1740=) c.792G>C (p.Ser264=) n.1032G>C c.1448G>C c.5112G>C (p.Ser1704=) n.5495G>C c.2301G>C (p.Ser767=) n.5493G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273492C>T | CA7308700 | CCDC88C | c.5220G>A (p.Ser1740=) c.792G>A (p.Ser264=) n.1032G>A c.1448G>A c.5112G>A (p.Ser1704=) n.5495G>A c.2301G>A (p.Ser767=) n.5493G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273493G>A | CA7308702 | CCDC88C | c.5219C>T (p.Ser1740Leu) c.791C>T (p.Ser264Leu) n.1031C>T c.1447C>T c.5111C>T (p.Ser1704Leu) n.5494C>T c.2300C>T (p.Ser767Leu) n.5492C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.91273493G>C | CA7308703 | CCDC88C | c.5219C>G (p.Ser1740Trp) c.791C>G (p.Ser264Trp) n.1031C>G c.1447C>G c.5111C>G (p.Ser1704Trp) n.5494C>G c.2300C>G (p.Ser767Trp) n.5492C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273493G= | CA2154902535 | CCDC88C | c.5219C= (p.Ser1740=) c.791C= (p.Ser264=) n.1031C= c.1447C= c.5111C= (p.Ser1704=) n.5494C= c.2300C= (p.Ser767=) n.5492C= | |
| 14 | g.91273493G>T | CA390610630 | CCDC88C | c.5219C>A (p.Ser1740Ter) c.791C>A (p.Ser264Ter) n.1031C>A c.1447C>A c.5111C>A (p.Ser1704Ter) n.5494C>A c.2300C>A (p.Ser767Ter) n.5492C>A | |
| 14 | g.91273494A>C | CA390610632 | CCDC88C | c.5218T>G (p.Ser1740Ala) c.790T>G (p.Ser264Ala) n.1030T>G c.1446T>G c.5110T>G (p.Ser1704Ala) n.5493T>G c.2299T>G (p.Ser767Ala) n.5491T>G | |
| 14 | g.91273494A>G | CA390610633 | CCDC88C | c.5218T>C (p.Ser1740Pro) c.790T>C (p.Ser264Pro) n.1030T>C c.1446T>C c.5110T>C (p.Ser1704Pro) n.5493T>C c.2299T>C (p.Ser767Pro) n.5491T>C | gnomAD v4 |
| 14 | g.91273494A>T | CA390610631 | CCDC88C | c.5218T>A (p.Ser1740Thr) c.790T>A (p.Ser264Thr) n.1030T>A c.1446T>A c.5110T>A (p.Ser1704Thr) n.5493T>A c.2299T>A (p.Ser767Thr) n.5491T>A | |
| 14 | g.91273495G>A | CA7308704 | CCDC88C | c.5217C>T (p.Thr1739=) c.789C>T (p.Thr263=) n.1029C>T c.1445C>T c.5109C>T (p.Thr1703=) n.5492C>T c.2298C>T (p.Thr766=) n.5490C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273495G>C | CA487829304 | CCDC88C | c.5217C>G (p.Thr1739=) c.789C>G (p.Thr263=) n.1029C>G c.1445C>G c.5109C>G (p.Thr1703=) n.5492C>G c.2298C>G (p.Thr766=) n.5490C>G | |
| 14 | g.91273495G= | CA2154902542 | CCDC88C | c.5217C= (p.Thr1739=) c.789C= (p.Thr263=) n.1029C= c.1445C= c.5109C= (p.Thr1703=) n.5492C= c.2298C= (p.Thr766=) n.5490C= | |
| 14 | g.91273495G>T | CA7308705 | CCDC88C | c.5217C>A (p.Thr1739=) c.789C>A (p.Thr263=) n.1029C>A c.1445C>A c.5109C>A (p.Thr1703=) n.5492C>A c.2298C>A (p.Thr766=) n.5490C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273495_91273496insC | CA2626123436 | CCDC88C | c.5216_5217insG (p.Ser1740LeufsTer20) c.788_789insG (p.Ser264LeufsTer20) n.1028_1029insG c.1444_1445insG c.5108_5109insG (p.Ser1704LeufsTer20) n.5491_5492insG c.2297_2298insG (p.Ser767LeufsTer20) n.5489_5490insG | gnomAD v4 |
| 14 | g.91273496G>A | CA390610634 | CCDC88C | c.5216C>T (p.Thr1739Ile) c.788C>T (p.Thr263Ile) n.1028C>T c.1444C>T c.5108C>T (p.Thr1703Ile) n.5491C>T c.2297C>T (p.Thr766Ile) n.5489C>T | gnomAD v4 |
| 14 | g.91273496G>C | CA390610635 | CCDC88C | c.5216C>G (p.Thr1739Ser) c.788C>G (p.Thr263Ser) n.1028C>G c.1444C>G c.5108C>G (p.Thr1703Ser) n.5491C>G c.2297C>G (p.Thr766Ser) n.5489C>G | gnomAD v4 |
| 14 | g.91273496G>T | CA390610636 | CCDC88C | c.5216C>A (p.Thr1739Asn) c.788C>A (p.Thr263Asn) n.1028C>A c.1444C>A c.5108C>A (p.Thr1703Asn) n.5491C>A c.2297C>A (p.Thr766Asn) n.5489C>A | |
| 14 | g.91273497T>A | CA390610637 | CCDC88C | c.5215A>T (p.Thr1739Ser) c.787A>T (p.Thr263Ser) n.1027A>T c.1443A>T c.5107A>T (p.Thr1703Ser) n.5490A>T c.2296A>T (p.Thr766Ser) n.5488A>T | |
| 14 | g.91273497T>C | CA390610638 | CCDC88C | c.5215A>G (p.Thr1739Ala) c.787A>G (p.Thr263Ala) n.1027A>G c.1443A>G c.5107A>G (p.Thr1703Ala) n.5490A>G c.2296A>G (p.Thr766Ala) n.5488A>G | gnomAD v4 |
| 14 | g.91273497T>G | CA390610639 | CCDC88C | c.5215A>C (p.Thr1739Pro) c.787A>C (p.Thr263Pro) n.1027A>C c.1443A>C c.5107A>C (p.Thr1703Pro) n.5490A>C c.2296A>C (p.Thr766Pro) n.5488A>C | dbSNP |
| 14 | g.91273497T= | CA2154902550 | CCDC88C | c.5215A= (p.Thr1739=) c.787A= (p.Thr263=) n.1027A= c.1443A= c.5107A= (p.Thr1703=) n.5490A= c.2296A= (p.Thr766=) n.5488A= | |
| 14 | g.91273498G>A | CA487829306 | CCDC88C | c.5214C>T (p.Pro1738=) c.786C>T (p.Pro262=) n.1026C>T c.1442C>T c.5106C>T (p.Pro1702=) n.5489C>T c.2295C>T (p.Pro765=) n.5487C>T | gnomAD v4 |
| 14 | g.91273498G>C | CA487829307 | CCDC88C | c.5214C>G (p.Pro1738=) c.786C>G (p.Pro262=) n.1026C>G c.1442C>G c.5106C>G (p.Pro1702=) n.5489C>G c.2295C>G (p.Pro765=) n.5487C>G | |
| 14 | g.91273498G>T | CA487829305 | CCDC88C | c.5214C>A (p.Pro1738=) c.786C>A (p.Pro262=) n.1026C>A c.1442C>A c.5106C>A (p.Pro1702=) n.5489C>A c.2295C>A (p.Pro765=) n.5487C>A | gnomAD v4 |
| 14 | g.91273502dup | CA7308706 | CCDC88C | c.5214dup (p.Thr1739HisfsTer21) c.786dup (p.Thr263HisfsTer21) n.1026dup c.1442dup c.5106dup (p.Thr1703HisfsTer21) n.5489dup c.2295dup (p.Thr766HisfsTer21) n.5487dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273502del | CA2626123437 | CCDC88C | c.5214del (p.Thr1739ProfsTer7) c.786del (p.Thr263ProfsTer7) n.1026del c.1442del c.5106del (p.Thr1703ProfsTer7) n.5489del c.2295del (p.Thr766ProfsTer7) n.5487del | gnomAD v4 |
| 14 | g.91273499G>A | CA390610640 | CCDC88C | c.5213C>T (p.Pro1738Leu) c.785C>T (p.Pro262Leu) n.1025C>T c.1441C>T c.5105C>T (p.Pro1702Leu) n.5488C>T c.2294C>T (p.Pro765Leu) n.5486C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273499G>C | CA390610641 | CCDC88C | c.5213C>G (p.Pro1738Arg) c.785C>G (p.Pro262Arg) n.1025C>G c.1441C>G c.5105C>G (p.Pro1702Arg) n.5488C>G c.2294C>G (p.Pro765Arg) n.5486C>G | |
| 14 | g.91273499G= | CA2154902559 | CCDC88C | c.5213C= (p.Pro1738=) c.785C= (p.Pro262=) n.1025C= c.1441C= c.5105C= (p.Pro1702=) n.5488C= c.2294C= (p.Pro765=) n.5486C= | |
| 14 | g.91273499G>T | CA390610642 | CCDC88C | c.5213C>A (p.Pro1738His) c.785C>A (p.Pro262His) n.1025C>A c.1441C>A c.5105C>A (p.Pro1702His) n.5488C>A c.2294C>A (p.Pro765His) n.5486C>A | |
| 14 | g.91273500G>A | CA7308707 | CCDC88C | c.5212C>T (p.Pro1738Ser) c.784C>T (p.Pro262Ser) n.1024C>T c.1440C>T c.5104C>T (p.Pro1702Ser) n.5487C>T c.2293C>T (p.Pro765Ser) n.5485C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273500G>C | CA390610643 | CCDC88C | c.5212C>G (p.Pro1738Ala) c.784C>G (p.Pro262Ala) n.1024C>G c.1440C>G c.5104C>G (p.Pro1702Ala) n.5487C>G c.2293C>G (p.Pro765Ala) n.5485C>G | |
| 14 | g.91273500G= | CA2154902562 | CCDC88C | c.5212C= (p.Pro1738=) c.784C= (p.Pro262=) n.1024C= c.1440C= c.5104C= (p.Pro1702=) n.5487C= c.2293C= (p.Pro765=) n.5485C= | |
| 14 | g.91273500G>T | CA390610644 | CCDC88C | c.5212C>A (p.Pro1738Thr) c.784C>A (p.Pro262Thr) n.1024C>A c.1440C>A c.5104C>A (p.Pro1702Thr) n.5487C>A c.2293C>A (p.Pro765Thr) n.5485C>A | gnomAD v4 |
| 14 | g.91273501G>A | CA487829308 | CCDC88C | c.5211C>T (p.Ala1737=) c.783C>T (p.Ala261=) n.1023C>T c.1439C>T c.5103C>T (p.Ala1701=) n.5486C>T c.2292C>T (p.Ala764=) n.5484C>T | gnomAD v4 |
| 14 | g.91273501G>C | CA487829309 | CCDC88C | c.5211C>G (p.Ala1737=) c.783C>G (p.Ala261=) n.1023C>G c.1439C>G c.5103C>G (p.Ala1701=) n.5486C>G c.2292C>G (p.Ala764=) n.5484C>G | |
| 14 | g.91273501G>T | CA487829310 | CCDC88C | c.5211C>A (p.Ala1737=) c.783C>A (p.Ala261=) n.1023C>A c.1439C>A c.5103C>A (p.Ala1701=) n.5486C>A c.2292C>A (p.Ala764=) n.5484C>A | gnomAD v4 |
| 14 | g.91273502G>A | CA390610645 | CCDC88C | c.5210C>T (p.Ala1737Val) c.782C>T (p.Ala261Val) n.1022C>T c.1438C>T c.5102C>T (p.Ala1701Val) n.5485C>T c.2291C>T (p.Ala764Val) n.5483C>T | gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.91273502G>C | CA390610646 | CCDC88C | c.5210C>G (p.Ala1737Gly) c.782C>G (p.Ala261Gly) n.1022C>G c.1438C>G c.5102C>G (p.Ala1701Gly) n.5485C>G c.2291C>G (p.Ala764Gly) n.5483C>G | |
| 14 | g.91273502G>T | CA390610647 | CCDC88C | c.5210C>A (p.Ala1737Asp) c.782C>A (p.Ala261Asp) n.1022C>A c.1438C>A c.5102C>A (p.Ala1701Asp) n.5485C>A c.2291C>A (p.Ala764Asp) n.5483C>A | gnomAD v4 |
| 14 | g.91273503C>A | CA390610648 | CCDC88C | c.5209G>T (p.Ala1737Ser) c.781G>T (p.Ala261Ser) n.1021G>T c.1437G>T c.5101G>T (p.Ala1701Ser) n.5484G>T c.2290G>T (p.Ala764Ser) n.5482G>T | gnomAD v4 |
| 14 | g.91273503C= | CA2154902565 | CCDC88C | c.5209G= (p.Ala1737=) c.781G= (p.Ala261=) n.1021G= c.1437G= c.5101G= (p.Ala1701=) n.5484G= c.2290G= (p.Ala764=) n.5482G= | |
| 14 | g.91273503C>G | CA390610649 | CCDC88C | c.5209G>C (p.Ala1737Pro) c.781G>C (p.Ala261Pro) n.1021G>C c.1437G>C c.5101G>C (p.Ala1701Pro) n.5484G>C c.2290G>C (p.Ala764Pro) n.5482G>C | gnomAD v4 |
| 14 | g.91273503C>T | CA7308708 | CCDC88C | c.5209G>A (p.Ala1737Thr) c.781G>A (p.Ala261Thr) n.1021G>A c.1437G>A c.5101G>A (p.Ala1701Thr) n.5484G>A c.2290G>A (p.Ala764Thr) n.5482G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.91273504G>A | CA7308709 | CCDC88C | c.5208C>T (p.Ala1736=) c.780C>T (p.Ala260=) n.1020C>T c.1436C>T c.5100C>T (p.Ala1700=) n.5483C>T c.2289C>T (p.Ala763=) n.5481C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273504G>C | CA487829312 | CCDC88C | c.5208C>G (p.Ala1736=) c.780C>G (p.Ala260=) n.1020C>G c.1436C>G c.5100C>G (p.Ala1700=) n.5483C>G c.2289C>G (p.Ala763=) n.5481C>G | |
| 14 | g.91273504G= | CA2154902567 | CCDC88C | c.5208C= (p.Ala1736=) c.780C= (p.Ala260=) n.1020C= c.1436C= c.5100C= (p.Ala1700=) n.5483C= c.2289C= (p.Ala763=) n.5481C= | |
| 14 | g.91273504G>T | CA487829311 | CCDC88C | c.5208C>A (p.Ala1736=) c.780C>A (p.Ala260=) n.1020C>A c.1436C>A c.5100C>A (p.Ala1700=) n.5483C>A c.2289C>A (p.Ala763=) n.5481C>A | gnomAD v4 |
| 14 | g.91273505G>A | CA7308710 | CCDC88C | c.5207C>T (p.Ala1736Val) c.779C>T (p.Ala260Val) n.1019C>T c.1435C>T c.5099C>T (p.Ala1700Val) n.5482C>T c.2288C>T (p.Ala763Val) n.5480C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273505G>C | CA390610650 | CCDC88C | c.5207C>G (p.Ala1736Gly) c.779C>G (p.Ala260Gly) n.1019C>G c.1435C>G c.5099C>G (p.Ala1700Gly) n.5482C>G c.2288C>G (p.Ala763Gly) n.5480C>G | |
| 14 | g.91273505G= | CA2154902571 | CCDC88C | c.5207C= (p.Ala1736=) c.779C= (p.Ala260=) n.1019C= c.1435C= c.5099C= (p.Ala1700=) n.5482C= c.2288C= (p.Ala763=) n.5480C= | |
| 14 | g.91273505G>T | CA390610651 | CCDC88C | c.5207C>A (p.Ala1736Asp) c.779C>A (p.Ala260Asp) n.1019C>A c.1435C>A c.5099C>A (p.Ala1700Asp) n.5482C>A c.2288C>A (p.Ala763Asp) n.5480C>A | |
| 14 | g.91273506C>A | CA390610652 | CCDC88C | c.5206G>T (p.Ala1736Ser) c.778G>T (p.Ala260Ser) n.1018G>T c.1434G>T c.5098G>T (p.Ala1700Ser) n.5481G>T c.2287G>T (p.Ala763Ser) n.5479G>T | gnomAD v4 |
| 14 | g.91273506C= | CA2154902578 | CCDC88C | c.5206G= (p.Ala1736=) c.778G= (p.Ala260=) n.1018G= c.1434G= c.5098G= (p.Ala1700=) n.5481G= c.2287G= (p.Ala763=) n.5479G= | |
| 14 | g.91273506C>G | CA390610653 | CCDC88C | c.5206G>C (p.Ala1736Pro) c.778G>C (p.Ala260Pro) n.1018G>C c.1434G>C c.5098G>C (p.Ala1700Pro) n.5481G>C c.2287G>C (p.Ala763Pro) n.5479G>C | |
| 14 | g.91273506C>T | CA390610654 | CCDC88C | c.5206G>A (p.Ala1736Thr) c.778G>A (p.Ala260Thr) n.1018G>A c.1434G>A c.5098G>A (p.Ala1700Thr) n.5481G>A c.2287G>A (p.Ala763Thr) n.5479G>A | dbSNP gnomAD v4 |
| 14 | g.91273507C>A | CA390610656 | CCDC88C | c.5205G>T (p.Met1735Ile) c.777G>T (p.Met259Ile) n.1017G>T c.1433G>T c.5097G>T (p.Met1699Ile) n.5480G>T c.2286G>T (p.Met762Ile) n.5478G>T | gnomAD v4 |
| 14 | g.91273507C>G | CA390610657 | CCDC88C | c.5205G>C (p.Met1735Ile) c.777G>C (p.Met259Ile) n.1017G>C c.1433G>C c.5097G>C (p.Met1699Ile) n.5480G>C c.2286G>C (p.Met762Ile) n.5478G>C | |
| 14 | g.91273507C>T | CA390610655 | CCDC88C | c.5205G>A (p.Met1735Ile) c.777G>A (p.Met259Ile) n.1017G>A c.1433G>A c.5097G>A (p.Met1699Ile) n.5480G>A c.2286G>A (p.Met762Ile) n.5478G>A | gnomAD v4 |
| 14 | g.91273508A>C | CA390610658 | CCDC88C | c.5204T>G (p.Met1735Arg) c.776T>G (p.Met259Arg) n.1016T>G c.1432T>G c.5096T>G (p.Met1699Arg) n.5479T>G c.2285T>G (p.Met762Arg) n.5477T>G | |
| 14 | g.91273508A>G | CA390610659 | CCDC88C | c.5204T>C (p.Met1735Thr) c.776T>C (p.Met259Thr) n.1016T>C c.1432T>C c.5096T>C (p.Met1699Thr) n.5479T>C c.2285T>C (p.Met762Thr) n.5477T>C | |
| 14 | g.91273508A>T | CA390610660 | CCDC88C | c.5204T>A (p.Met1735Lys) c.776T>A (p.Met259Lys) n.1016T>A c.1432T>A c.5096T>A (p.Met1699Lys) n.5479T>A c.2285T>A (p.Met762Lys) n.5477T>A | |
| 14 | g.91273509T>A | CA390610661 | CCDC88C | c.5203A>T (p.Met1735Leu) c.775A>T (p.Met259Leu) n.1015A>T c.1431A>T c.5095A>T (p.Met1699Leu) n.5478A>T c.2284A>T (p.Met762Leu) n.5476A>T | |
| 14 | g.91273509T>C | CA390610662 | CCDC88C | c.5203A>G (p.Met1735Val) c.775A>G (p.Met259Val) n.1015A>G c.1431A>G c.5095A>G (p.Met1699Val) n.5478A>G c.2284A>G (p.Met762Val) n.5476A>G | gnomAD v4 |
| 14 | g.91273509T>G | CA390610663 | CCDC88C | c.5203A>C (p.Met1735Leu) c.775A>C (p.Met259Leu) n.1015A>C c.1431A>C c.5095A>C (p.Met1699Leu) n.5478A>C c.2284A>C (p.Met762Leu) n.5476A>C | |
| 14 | g.91273512del | CA2626123441 | CCDC88C | c.5203del (p.Met1735TrpfsTer11) c.775del (p.Met259TrpfsTer11) n.1015del c.1431del c.5095del (p.Met1699TrpfsTer11) n.5478del c.2284del (p.Met762TrpfsTer11) n.5476del | gnomAD v4 |
| 14 | g.91273510T>A | CA390610665 | CCDC88C | c.5202A>T (p.Lys1734Asn) c.774A>T (p.Lys258Asn) n.1014A>T c.1430A>T c.5094A>T (p.Lys1698Asn) n.5477A>T c.2283A>T (p.Lys761Asn) n.5475A>T | |
| 14 | g.91273510T>C | CA487829313 | CCDC88C | c.5202A>G (p.Lys1734=) c.774A>G (p.Lys258=) n.1014A>G c.1430A>G c.5094A>G (p.Lys1698=) n.5477A>G c.2283A>G (p.Lys761=) n.5475A>G | gnomAD v4 |
| 14 | g.91273510T>G | CA390610664 | CCDC88C | c.5202A>C (p.Lys1734Asn) c.774A>C (p.Lys258Asn) n.1014A>C c.1430A>C c.5094A>C (p.Lys1698Asn) n.5477A>C c.2283A>C (p.Lys761Asn) n.5475A>C | |
| 14 | g.91273511T>A | CA390610666 | CCDC88C | c.5201A>T (p.Lys1734Ile) c.773A>T (p.Lys258Ile) n.1013A>T c.1429A>T c.5093A>T (p.Lys1698Ile) n.5476A>T c.2282A>T (p.Lys761Ile) n.5474A>T | |
| 14 | g.91273511T>C | CA390610667 | CCDC88C | c.5201A>G (p.Lys1734Arg) c.773A>G (p.Lys258Arg) n.1013A>G c.1429A>G c.5093A>G (p.Lys1698Arg) n.5476A>G c.2282A>G (p.Lys761Arg) n.5474A>G | dbSNP gnomAD v4 |
| 14 | g.91273511T>G | CA390610668 | CCDC88C | c.5201A>C (p.Lys1734Thr) c.773A>C (p.Lys258Thr) n.1013A>C c.1429A>C c.5093A>C (p.Lys1698Thr) n.5476A>C c.2282A>C (p.Lys761Thr) n.5474A>C | |
| 14 | g.91273511T= | CA2154902582 | CCDC88C | c.5201A= (p.Lys1734=) c.773A= (p.Lys258=) n.1013A= c.1429A= c.5093A= (p.Lys1698=) n.5476A= c.2282A= (p.Lys761=) n.5474A= | |
| 14 | g.91273512T>A | CA390610669 | CCDC88C | c.5200A>T (p.Lys1734Ter) c.772A>T (p.Lys258Ter) n.1012A>T c.1428A>T c.5092A>T (p.Lys1698Ter) n.5475A>T c.2281A>T (p.Lys761Ter) n.5473A>T | |
| 14 | g.91273512T>C | CA390610670 | CCDC88C | c.5200A>G (p.Lys1734Glu) c.772A>G (p.Lys258Glu) n.1012A>G c.1428A>G c.5092A>G (p.Lys1698Glu) n.5475A>G c.2281A>G (p.Lys761Glu) n.5473A>G | gnomAD v4 |
| 14 | g.91273512T>G | CA390610671 | CCDC88C | c.5200A>C (p.Lys1734Gln) c.772A>C (p.Lys258Gln) n.1012A>C c.1428A>C c.5092A>C (p.Lys1698Gln) n.5475A>C c.2281A>C (p.Lys761Gln) n.5473A>C | |
| 14 | g.91273513G>A | CA487829314 | CCDC88C | c.5199C>T (p.Val1733=) c.771C>T (p.Val257=) n.1011C>T c.1427C>T c.5091C>T (p.Val1697=) n.5474C>T c.2280C>T (p.Val760=) n.5472C>T | gnomAD v4 |
| 14 | g.91273513G>C | CA487829315 | CCDC88C | c.5199C>G (p.Val1733=) c.771C>G (p.Val257=) n.1011C>G c.1427C>G c.5091C>G (p.Val1697=) n.5474C>G c.2280C>G (p.Val760=) n.5472C>G | |
| 14 | g.91273513G>T | CA487829316 | CCDC88C | c.5199C>A (p.Val1733=) c.771C>A (p.Val257=) n.1011C>A c.1427C>A c.5091C>A (p.Val1697=) n.5474C>A c.2280C>A (p.Val760=) n.5472C>A | |
| 14 | g.91273514A= | CA2154902586 | CCDC88C | c.5198T= (p.Val1733=) c.770T= (p.Val257=) n.1010T= c.1426T= c.5090T= (p.Val1697=) n.5473T= c.2279T= (p.Val760=) n.5471T= | |
| 14 | g.91273514A>C | CA390610673 | CCDC88C | c.5198T>G (p.Val1733Gly) c.770T>G (p.Val257Gly) n.1010T>G c.1426T>G c.5090T>G (p.Val1697Gly) n.5473T>G c.2279T>G (p.Val760Gly) n.5471T>G | gnomAD v4 |
| 14 | g.91273514A>G | CA7308711 | CCDC88C | c.5198T>C (p.Val1733Ala) c.770T>C (p.Val257Ala) n.1010T>C c.1426T>C c.5090T>C (p.Val1697Ala) n.5473T>C c.2279T>C (p.Val760Ala) n.5471T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273514A>T | CA390610672 | CCDC88C | c.5198T>A (p.Val1733Asp) c.770T>A (p.Val257Asp) n.1010T>A c.1426T>A c.5090T>A (p.Val1697Asp) n.5473T>A c.2279T>A (p.Val760Asp) n.5471T>A | |
| 14 | g.91273515C>A | CA390610674 | CCDC88C | c.5197G>T (p.Val1733Phe) c.769G>T (p.Val257Phe) n.1009G>T c.1425G>T c.5089G>T (p.Val1697Phe) n.5472G>T c.2278G>T (p.Val760Phe) n.5470G>T | gnomAD v4 |
| 14 | g.91273515C= | CA2154902593 | CCDC88C | c.5197G= (p.Val1733=) c.769G= (p.Val257=) n.1009G= c.1425G= c.5089G= (p.Val1697=) n.5472G= c.2278G= (p.Val760=) n.5470G= | |
| 14 | g.91273515C>G | CA390610675 | CCDC88C | c.5197G>C (p.Val1733Leu) c.769G>C (p.Val257Leu) n.1009G>C c.1425G>C c.5089G>C (p.Val1697Leu) n.5472G>C c.2278G>C (p.Val760Leu) n.5470G>C | |
| 14 | g.91273515C>T | CA7308712 | CCDC88C | c.5197G>A (p.Val1733Ile) c.769G>A (p.Val257Ile) n.1009G>A c.1425G>A c.5089G>A (p.Val1697Ile) n.5472G>A c.2278G>A (p.Val760Ile) n.5470G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.91273516G>A | CA7308713 | CCDC88C | c.5196C>T (p.Thr1732=) c.768C>T (p.Thr256=) n.1008C>T c.1424C>T c.5088C>T (p.Thr1696=) n.5471C>T c.2277C>T (p.Thr759=) n.5469C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273516G>C | CA487829317 | CCDC88C | c.5196C>G (p.Thr1732=) c.768C>G (p.Thr256=) n.1008C>G c.1424C>G c.5088C>G (p.Thr1696=) n.5471C>G c.2277C>G (p.Thr759=) n.5469C>G | |
| 14 | g.91273516G= | CA2154902598 | CCDC88C | c.5196C= (p.Thr1732=) c.768C= (p.Thr256=) n.1008C= c.1424C= c.5088C= (p.Thr1696=) n.5471C= c.2277C= (p.Thr759=) n.5469C= | |
| 14 | g.91273516G>T | CA487829318 | CCDC88C | c.5196C>A (p.Thr1732=) c.768C>A (p.Thr256=) n.1008C>A c.1424C>A c.5088C>A (p.Thr1696=) n.5471C>A c.2277C>A (p.Thr759=) n.5469C>A | gnomAD v4 |
| 14 | g.91273517G>A | CA390610676 | CCDC88C | c.5195C>T (p.Thr1732Ile) c.767C>T (p.Thr256Ile) n.1007C>T c.1423C>T c.5087C>T (p.Thr1696Ile) n.5470C>T c.2276C>T (p.Thr759Ile) n.5468C>T | gnomAD v4 |
| 14 | g.91273517G>C | CA390610677 | CCDC88C | c.5195C>G (p.Thr1732Ser) c.767C>G (p.Thr256Ser) n.1007C>G c.1423C>G c.5087C>G (p.Thr1696Ser) n.5470C>G c.2276C>G (p.Thr759Ser) n.5468C>G | |
| 14 | g.91273517G>T | CA390610678 | CCDC88C | c.5195C>A (p.Thr1732Asn) c.767C>A (p.Thr256Asn) n.1007C>A c.1423C>A c.5087C>A (p.Thr1696Asn) n.5470C>A c.2276C>A (p.Thr759Asn) n.5468C>A | |
| 14 | g.91273518T>A | CA390610679 | CCDC88C | c.5194A>T (p.Thr1732Ser) c.766A>T (p.Thr256Ser) n.1006A>T c.1422A>T c.5086A>T (p.Thr1696Ser) n.5469A>T c.2275A>T (p.Thr759Ser) n.5467A>T | |
| 14 | g.91273518T>C | CA390610680 | CCDC88C | c.5194A>G (p.Thr1732Ala) c.766A>G (p.Thr256Ala) n.1006A>G c.1422A>G c.5086A>G (p.Thr1696Ala) n.5469A>G c.2275A>G (p.Thr759Ala) n.5467A>G | gnomAD v4 |
| 14 | g.91273518T>G | CA390610681 | CCDC88C | c.5194A>C (p.Thr1732Pro) c.766A>C (p.Thr256Pro) n.1006A>C c.1422A>C c.5086A>C (p.Thr1696Pro) n.5469A>C c.2275A>C (p.Thr759Pro) n.5467A>C | gnomAD v4 |
| 14 | g.91273519G>A | CA487829321 | CCDC88C | c.5193C>T (p.Pro1731=) c.765C>T (p.Pro255=) n.1005C>T c.1421C>T c.5085C>T (p.Pro1695=) n.5468C>T c.2274C>T (p.Pro758=) n.5466C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91273519G>C | CA487829320 | CCDC88C | c.5193C>G (p.Pro1731=) c.765C>G (p.Pro255=) n.1005C>G c.1421C>G c.5085C>G (p.Pro1695=) n.5468C>G c.2274C>G (p.Pro758=) n.5466C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273519G= | CA2154902603 | CCDC88C | c.5193C= (p.Pro1731=) c.765C= (p.Pro255=) n.1005C= c.1421C= c.5085C= (p.Pro1695=) n.5468C= c.2274C= (p.Pro758=) n.5466C= | |
| 14 | g.91273519G>T | CA487829319 | CCDC88C | c.5193C>A (p.Pro1731=) c.765C>A (p.Pro255=) n.1005C>A c.1421C>A c.5085C>A (p.Pro1695=) n.5468C>A c.2274C>A (p.Pro758=) n.5466C>A | |
| 14 | g.91273523dup | CA2626123444 | CCDC88C | c.5193dup (p.Thr1732HisfsTer28) c.765dup (p.Thr256HisfsTer28) n.1005dup c.1421dup c.5085dup (p.Thr1696HisfsTer28) n.5468dup c.2274dup (p.Thr759HisfsTer28) n.5466dup | gnomAD v4 |
| 14 | g.91273523del | CA2626123445 | CCDC88C | c.5193del (p.Thr1732ProfsTer14) c.765del (p.Thr256ProfsTer14) n.1005del c.1421del c.5085del (p.Thr1696ProfsTer14) n.5468del c.2274del (p.Thr759ProfsTer14) n.5466del | gnomAD v4 |
| 14 | g.91273520G>A | CA390610682 | CCDC88C | c.5192C>T (p.Pro1731Leu) c.764C>T (p.Pro255Leu) n.1004C>T c.1420C>T c.5084C>T (p.Pro1695Leu) n.5467C>T c.2273C>T (p.Pro758Leu) n.5465C>T | |
| 14 | g.91273520G>C | CA390610683 | CCDC88C | c.5192C>G (p.Pro1731Arg) c.764C>G (p.Pro255Arg) n.1004C>G c.1420C>G c.5084C>G (p.Pro1695Arg) n.5467C>G c.2273C>G (p.Pro758Arg) n.5465C>G | |
| 14 | g.91273520G>T | CA390610684 | CCDC88C | c.5192C>A (p.Pro1731His) c.764C>A (p.Pro255His) n.1004C>A c.1420C>A c.5084C>A (p.Pro1695His) n.5467C>A c.2273C>A (p.Pro758His) n.5465C>A | gnomAD v4 |
| 14 | g.91273521G>A | CA390610687 | CCDC88C | c.5191C>T (p.Pro1731Ser) c.763C>T (p.Pro255Ser) n.1003C>T c.1419C>T c.5083C>T (p.Pro1695Ser) n.5466C>T c.2272C>T (p.Pro758Ser) n.5464C>T | gnomAD v4 COSMIC |
| 14 | g.91273521G>C | CA390610685 | CCDC88C | c.5191C>G (p.Pro1731Ala) c.763C>G (p.Pro255Ala) n.1003C>G c.1419C>G c.5083C>G (p.Pro1695Ala) n.5466C>G c.2272C>G (p.Pro758Ala) n.5464C>G | gnomAD v4 |
| 14 | g.91273521G>T | CA390610686 | CCDC88C | c.5191C>A (p.Pro1731Thr) c.763C>A (p.Pro255Thr) n.1003C>A c.1419C>A c.5083C>A (p.Pro1695Thr) n.5466C>A c.2272C>A (p.Pro758Thr) n.5464C>A | gnomAD v4 |
| 14 | g.91273522G>A | CA487829324 | CCDC88C | c.5190C>T (p.Ala1730=) c.762C>T (p.Ala254=) n.1002C>T c.1418C>T c.5082C>T (p.Ala1694=) n.5465C>T c.2271C>T (p.Ala757=) n.5463C>T | gnomAD v4 |
| 14 | g.91273522G>C | CA487829323 | CCDC88C | c.5190C>G (p.Ala1730=) c.762C>G (p.Ala254=) n.1002C>G c.1418C>G c.5082C>G (p.Ala1694=) n.5465C>G c.2271C>G (p.Ala757=) n.5463C>G | |
| 14 | g.91273522G>T | CA487829322 | CCDC88C | c.5190C>A (p.Ala1730=) c.762C>A (p.Ala254=) n.1002C>A c.1418C>A c.5082C>A (p.Ala1694=) n.5465C>A c.2271C>A (p.Ala757=) n.5463C>A | gnomAD v4 |
| 14 | g.91273523G>A | CA390610688 | CCDC88C | c.5189C>T (p.Ala1730Val) c.761C>T (p.Ala254Val) n.1001C>T c.1417C>T c.5081C>T (p.Ala1694Val) n.5464C>T c.2270C>T (p.Ala757Val) n.5462C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273523G>C | CA390610689 | CCDC88C | c.5189C>G (p.Ala1730Gly) c.761C>G (p.Ala254Gly) n.1001C>G c.1417C>G c.5081C>G (p.Ala1694Gly) n.5464C>G c.2270C>G (p.Ala757Gly) n.5462C>G | |
| 14 | g.91273523G= | CA2154902605 | CCDC88C | c.5189C= (p.Ala1730=) c.761C= (p.Ala254=) n.1001C= c.1417C= c.5081C= (p.Ala1694=) n.5464C= c.2270C= (p.Ala757=) n.5462C= | |
| 14 | g.91273523G>T | CA7308714 | CCDC88C | c.5189C>A (p.Ala1730Asp) c.761C>A (p.Ala254Asp) n.1001C>A c.1417C>A c.5081C>A (p.Ala1694Asp) n.5464C>A c.2270C>A (p.Ala757Asp) n.5462C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273524C>A | CA390610690 | CCDC88C | c.5188G>T (p.Ala1730Ser) c.760G>T (p.Ala254Ser) n.1000G>T c.1416G>T c.5080G>T (p.Ala1694Ser) n.5463G>T c.2269G>T (p.Ala757Ser) n.5461G>T | gnomAD v4 |
| 14 | g.91273524C>G | CA390610691 | CCDC88C | c.5188G>C (p.Ala1730Pro) c.760G>C (p.Ala254Pro) n.1000G>C c.1416G>C c.5080G>C (p.Ala1694Pro) n.5463G>C c.2269G>C (p.Ala757Pro) n.5461G>C | |
| 14 | g.91273524C>T | CA390610692 | CCDC88C | c.5188G>A (p.Ala1730Thr) c.760G>A (p.Ala254Thr) n.1000G>A c.1416G>A c.5080G>A (p.Ala1694Thr) n.5463G>A c.2269G>A (p.Ala757Thr) n.5461G>A | gnomAD v4 |
| 14 | g.91273525del | CA2626123446 | CCDC88C | c.5188del (p.Ala1730ProfsTer16) c.760del (p.Ala254ProfsTer16) n.1000del c.1416del c.5080del (p.Ala1694ProfsTer16) n.5463del c.2269del (p.Ala757ProfsTer16) n.5461del | gnomAD v4 |
| 14 | g.91273525C>A | CA487829325 | CCDC88C | c.5187G>T (p.Val1729=) c.759G>T (p.Val253=) n.999G>T c.1415G>T c.5079G>T (p.Val1693=) n.5462G>T c.2268G>T (p.Val756=) n.5460G>T | |
| 14 | g.91273525C>G | CA487829327 | CCDC88C | c.5187G>C (p.Val1729=) c.759G>C (p.Val253=) n.999G>C c.1415G>C c.5079G>C (p.Val1693=) n.5462G>C c.2268G>C (p.Val756=) n.5460G>C | |
| 14 | g.91273525C>T | CA487829326 | CCDC88C | c.5187G>A (p.Val1729=) c.759G>A (p.Val253=) n.999G>A c.1415G>A c.5079G>A (p.Val1693=) n.5462G>A c.2268G>A (p.Val756=) n.5460G>A | gnomAD v4 |
| 14 | g.91273526A>C | CA390610695 | CCDC88C | c.5186T>G (p.Val1729Gly) c.758T>G (p.Val253Gly) n.998T>G c.1414T>G c.5078T>G (p.Val1693Gly) n.5461T>G c.2267T>G (p.Val756Gly) n.5459T>G | |
| 14 | g.91273526A>G | CA390610693 | CCDC88C | c.5186T>C (p.Val1729Ala) c.758T>C (p.Val253Ala) n.998T>C c.1414T>C c.5078T>C (p.Val1693Ala) n.5461T>C c.2267T>C (p.Val756Ala) n.5459T>C | |
| 14 | g.91273526A>T | CA390610694 | CCDC88C | c.5186T>A (p.Val1729Glu) c.758T>A (p.Val253Glu) n.998T>A c.1414T>A c.5078T>A (p.Val1693Glu) n.5461T>A c.2267T>A (p.Val756Glu) n.5459T>A | |
| 14 | g.91273527C>A | CA390610696 | CCDC88C | c.5185G>T (p.Val1729Leu) c.757G>T (p.Val253Leu) n.997G>T c.1413G>T c.5077G>T (p.Val1693Leu) n.5460G>T c.2266G>T (p.Val756Leu) n.5458G>T | gnomAD v4 |
| 14 | g.91273527C>G | CA390610697 | CCDC88C | c.5185G>C (p.Val1729Leu) c.757G>C (p.Val253Leu) n.997G>C c.1413G>C c.5077G>C (p.Val1693Leu) n.5460G>C c.2266G>C (p.Val756Leu) n.5458G>C | |
| 14 | g.91273527C>T | CA390610698 | CCDC88C | c.5185G>A (p.Val1729Met) c.757G>A (p.Val253Met) n.997G>A c.1413G>A c.5077G>A (p.Val1693Met) n.5460G>A c.2266G>A (p.Val756Met) n.5458G>A | |
| 14 | g.91273528A>C | CA390610699 | CCDC88C | c.5184T>G (p.Phe1728Leu) c.756T>G (p.Phe252Leu) n.996T>G c.1412T>G c.5076T>G (p.Phe1692Leu) n.5459T>G c.2265T>G (p.Phe755Leu) n.5457T>G | |
| 14 | g.91273528A>G | CA487829328 | CCDC88C | c.5184T>C (p.Phe1728=) c.756T>C (p.Phe252=) n.996T>C c.1412T>C c.5076T>C (p.Phe1692=) n.5459T>C c.2265T>C (p.Phe755=) n.5457T>C | |
| 14 | g.91273528A>T | CA390610700 | CCDC88C | c.5184T>A (p.Phe1728Leu) c.756T>A (p.Phe252Leu) n.996T>A c.1412T>A c.5076T>A (p.Phe1692Leu) n.5459T>A c.2265T>A (p.Phe755Leu) n.5457T>A | gnomAD v4 |
| 14 | g.91273529A= | CA2154902614 | CCDC88C | c.5183T= (p.Phe1728=) c.755T= (p.Phe252=) n.995T= c.1411T= c.5075T= (p.Phe1692=) n.5458T= c.2264T= (p.Phe755=) n.5456T= | |
| 14 | g.91273529A>C | CA390610702 | CCDC88C | c.5183T>G (p.Phe1728Cys) c.755T>G (p.Phe252Cys) n.995T>G c.1411T>G c.5075T>G (p.Phe1692Cys) n.5458T>G c.2264T>G (p.Phe755Cys) n.5456T>G | dbSNP gnomAD v4 |
| 14 | g.91273529A>G | CA7308715 | CCDC88C | c.5183T>C (p.Phe1728Ser) c.755T>C (p.Phe252Ser) n.995T>C c.1411T>C c.5075T>C (p.Phe1692Ser) n.5458T>C c.2264T>C (p.Phe755Ser) n.5456T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273529A>T | CA390610701 | CCDC88C | c.5183T>A (p.Phe1728Tyr) c.755T>A (p.Phe252Tyr) n.995T>A c.1411T>A c.5075T>A (p.Phe1692Tyr) n.5458T>A c.2264T>A (p.Phe755Tyr) n.5456T>A | |
| 14 | g.91273530A= | CA2154902621 | CCDC88C | c.5182T= (p.Phe1728=) c.754T= (p.Phe252=) n.994T= c.1410T= c.5074T= (p.Phe1692=) n.5457T= c.2263T= (p.Phe755=) n.5455T= | |
| 14 | g.91273530A>C | CA390610703 | CCDC88C | c.5182T>G (p.Phe1728Val) c.754T>G (p.Phe252Val) n.994T>G c.1410T>G c.5074T>G (p.Phe1692Val) n.5457T>G c.2263T>G (p.Phe755Val) n.5455T>G | |
| 14 | g.91273530A>G | CA390610704 | CCDC88C | c.5182T>C (p.Phe1728Leu) c.754T>C (p.Phe252Leu) n.994T>C c.1410T>C c.5074T>C (p.Phe1692Leu) n.5457T>C c.2263T>C (p.Phe755Leu) n.5455T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273530A>T | CA390610705 | CCDC88C | c.5182T>A (p.Phe1728Ile) c.754T>A (p.Phe252Ile) n.994T>A c.1410T>A c.5074T>A (p.Phe1692Ile) n.5457T>A c.2263T>A (p.Phe755Ile) n.5455T>A | |
| 14 | g.91273531G>A | CA7308716 | CCDC88C | c.5181C>T (p.Asn1727=) c.753C>T (p.Asn251=) n.993C>T c.1409C>T c.5073C>T (p.Asn1691=) n.5456C>T c.2262C>T (p.Asn754=) n.5454C>T | ClinVar dbSNP ExAC gnomAD v4 |
| 14 | g.91273531G>C | CA390610706 | CCDC88C | c.5181C>G (p.Asn1727Lys) c.753C>G (p.Asn251Lys) n.993C>G c.1409C>G c.5073C>G (p.Asn1691Lys) n.5456C>G c.2262C>G (p.Asn754Lys) n.5454C>G | |
| 14 | g.91273531G= | CA2154902627 | CCDC88C | c.5181C= (p.Asn1727=) c.753C= (p.Asn251=) n.993C= c.1409C= c.5073C= (p.Asn1691=) n.5456C= c.2262C= (p.Asn754=) n.5454C= | |
| 14 | g.91273531G>T | CA390610707 | CCDC88C | c.5181C>A (p.Asn1727Lys) c.753C>A (p.Asn251Lys) n.993C>A c.1409C>A c.5073C>A (p.Asn1691Lys) n.5456C>A c.2262C>A (p.Asn754Lys) n.5454C>A | |
| 14 | g.91273532T>A | CA390610708 | CCDC88C | c.5180A>T (p.Asn1727Ile) c.752A>T (p.Asn251Ile) n.992A>T c.1408A>T c.5072A>T (p.Asn1691Ile) n.5455A>T c.2261A>T (p.Asn754Ile) n.5453A>T | |
| 14 | g.91273532T>C | CA390610709 | CCDC88C | c.5180A>G (p.Asn1727Ser) c.752A>G (p.Asn251Ser) n.992A>G c.1408A>G c.5072A>G (p.Asn1691Ser) n.5455A>G c.2261A>G (p.Asn754Ser) n.5453A>G | gnomAD v4 |
| 14 | g.91273532T>G | CA390610710 | CCDC88C | c.5180A>C (p.Asn1727Thr) c.752A>C (p.Asn251Thr) n.992A>C c.1408A>C c.5072A>C (p.Asn1691Thr) n.5455A>C c.2261A>C (p.Asn754Thr) n.5453A>C | dbSNP |
| 14 | g.91273532T= | CA2154902632 | CCDC88C | c.5180A= (p.Asn1727=) c.752A= (p.Asn251=) n.992A= c.1408A= c.5072A= (p.Asn1691=) n.5455A= c.2261A= (p.Asn754=) n.5453A= | |
| 14 | g.91273533T>A | CA390610711 | CCDC88C | c.5179A>T (p.Asn1727Tyr) c.751A>T (p.Asn251Tyr) n.991A>T c.1407A>T c.5071A>T (p.Asn1691Tyr) n.5454A>T c.2260A>T (p.Asn754Tyr) n.5452A>T | |
| 14 | g.91273533T>C | CA390610712 | CCDC88C | c.5179A>G (p.Asn1727Asp) c.751A>G (p.Asn251Asp) n.991A>G c.1407A>G c.5071A>G (p.Asn1691Asp) n.5454A>G c.2260A>G (p.Asn754Asp) n.5452A>G | |
| 14 | g.91273533T>G | CA390610713 | CCDC88C | c.5179A>C (p.Asn1727His) c.751A>C (p.Asn251His) n.991A>C c.1407A>C c.5071A>C (p.Asn1691His) n.5454A>C c.2260A>C (p.Asn754His) n.5452A>C | |
| 14 | g.91273534G>A | CA487829329 | CCDC88C | c.5178C>T (p.Thr1726=) c.750C>T (p.Thr250=) n.990C>T c.1406C>T c.5070C>T (p.Thr1690=) n.5453C>T c.2259C>T (p.Thr753=) n.5451C>T | |
| 14 | g.91273534G>C | CA487829330 | CCDC88C | c.5178C>G (p.Thr1726=) c.750C>G (p.Thr250=) n.990C>G c.1406C>G c.5070C>G (p.Thr1690=) n.5453C>G c.2259C>G (p.Thr753=) n.5451C>G | gnomAD v4 |
| 14 | g.91273534G>T | CA487829331 | CCDC88C | c.5178C>A (p.Thr1726=) c.750C>A (p.Thr250=) n.990C>A c.1406C>A c.5070C>A (p.Thr1690=) n.5453C>A c.2259C>A (p.Thr753=) n.5451C>A | |
| 14 | g.91273535G>A | CA7308717 | CCDC88C | c.5177C>T (p.Thr1726Ile) c.749C>T (p.Thr250Ile) n.989C>T c.1405C>T c.5069C>T (p.Thr1690Ile) n.5452C>T c.2258C>T (p.Thr753Ile) n.5450C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273535G>C | CA390610714 | CCDC88C | c.5177C>G (p.Thr1726Ser) c.749C>G (p.Thr250Ser) n.989C>G c.1405C>G c.5069C>G (p.Thr1690Ser) n.5452C>G c.2258C>G (p.Thr753Ser) n.5450C>G | gnomAD v4 |
| 14 | g.91273535G= | CA2154902640 | CCDC88C | c.5177C= (p.Thr1726=) c.749C= (p.Thr250=) n.989C= c.1405C= c.5069C= (p.Thr1690=) n.5452C= c.2258C= (p.Thr753=) n.5450C= | |
| 14 | g.91273535G>T | CA265518508 | CCDC88C | c.5177C>A (p.Thr1726Asn) c.749C>A (p.Thr250Asn) n.989C>A c.1405C>A c.5069C>A (p.Thr1690Asn) n.5452C>A c.2258C>A (p.Thr753Asn) n.5450C>A | dbSNP gnomAD v4 |
| 14 | g.91273536T>A | CA390610715 | CCDC88C | c.5176A>T (p.Thr1726Ser) c.748A>T (p.Thr250Ser) n.988A>T c.1404A>T c.5068A>T (p.Thr1690Ser) n.5451A>T c.2257A>T (p.Thr753Ser) n.5449A>T | |
| 14 | g.91273536T>C | CA390610717 | CCDC88C | c.5176A>G (p.Thr1726Ala) c.748A>G (p.Thr250Ala) n.988A>G c.1404A>G c.5068A>G (p.Thr1690Ala) n.5451A>G c.2257A>G (p.Thr753Ala) n.5449A>G | gnomAD v4 |
| 14 | g.91273536T>G | CA390610716 | CCDC88C | c.5176A>C (p.Thr1726Pro) c.748A>C (p.Thr250Pro) n.988A>C c.1404A>C c.5068A>C (p.Thr1690Pro) n.5451A>C c.2257A>C (p.Thr753Pro) n.5449A>C | dbSNP |
| 14 | g.91273536T= | CA2154902644 | CCDC88C | c.5176A= (p.Thr1726=) c.748A= (p.Thr250=) n.988A= c.1404A= c.5068A= (p.Thr1690=) n.5451A= c.2257A= (p.Thr753=) n.5449A= | |
| 14 | g.91273537G>A | CA487829332 | CCDC88C | c.5175C>T (p.Pro1725=) c.747C>T (p.Pro249=) n.987C>T c.1403C>T c.5067C>T (p.Pro1689=) n.5450C>T c.2256C>T (p.Pro752=) n.5448C>T | gnomAD v4 |
| 14 | g.91273537G>C | CA487829333 | CCDC88C | c.5175C>G (p.Pro1725=) c.747C>G (p.Pro249=) n.987C>G c.1403C>G c.5067C>G (p.Pro1689=) n.5450C>G c.2256C>G (p.Pro752=) n.5448C>G | |
| 14 | g.91273537G>T | CA487829334 | CCDC88C | c.5175C>A (p.Pro1725=) c.747C>A (p.Pro249=) n.987C>A c.1403C>A c.5067C>A (p.Pro1689=) n.5450C>A c.2256C>A (p.Pro752=) n.5448C>A | gnomAD v4 |
| 14 | g.91273539del | CA2626123447 | CCDC88C | c.5175del (p.Thr1726ProfsTer20) c.747del (p.Thr250ProfsTer20) n.987del c.1403del c.5067del (p.Thr1690ProfsTer20) n.5450del c.2256del (p.Thr753ProfsTer20) n.5448del | gnomAD v4 |
| 14 | g.91273538G>A | CA390610718 | CCDC88C | c.5174C>T (p.Pro1725Leu) c.746C>T (p.Pro249Leu) n.986C>T c.1402C>T c.5066C>T (p.Pro1689Leu) n.5449C>T c.2255C>T (p.Pro752Leu) n.5447C>T | gnomAD v4 |
| 14 | g.91273538G>C | CA390610719 | CCDC88C | c.5174C>G (p.Pro1725Arg) c.746C>G (p.Pro249Arg) n.986C>G c.1402C>G c.5066C>G (p.Pro1689Arg) n.5449C>G c.2255C>G (p.Pro752Arg) n.5447C>G | |
| 14 | g.91273538G>T | CA390610720 | CCDC88C | c.5174C>A (p.Pro1725His) c.746C>A (p.Pro249His) n.986C>A c.1402C>A c.5066C>A (p.Pro1689His) n.5449C>A c.2255C>A (p.Pro752His) n.5447C>A | gnomAD v4 |
| 14 | g.91273539G>A | CA390610721 | CCDC88C | c.5173C>T (p.Pro1725Ser) c.745C>T (p.Pro249Ser) n.985C>T c.1401C>T c.5065C>T (p.Pro1689Ser) n.5448C>T c.2254C>T (p.Pro752Ser) n.5446C>T | gnomAD v4 |
| 14 | g.91273539G>C | CA390610722 | CCDC88C | c.5173C>G (p.Pro1725Ala) c.745C>G (p.Pro249Ala) n.985C>G c.1401C>G c.5065C>G (p.Pro1689Ala) n.5448C>G c.2254C>G (p.Pro752Ala) n.5446C>G | |
| 14 | g.91273539G>T | CA390610723 | CCDC88C | c.5173C>A (p.Pro1725Thr) c.745C>A (p.Pro249Thr) n.985C>A c.1401C>A c.5065C>A (p.Pro1689Thr) n.5448C>A c.2254C>A (p.Pro752Thr) n.5446C>A | |
| 14 | g.91273540C>A | CA265518515 | CCDC88C | c.5172G>T (p.Met1724Ile) c.744G>T (p.Met248Ile) n.984G>T c.1400G>T c.5064G>T (p.Met1688Ile) n.5447G>T c.2253G>T (p.Met751Ile) n.5445G>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273540C= | CA2154902655 | CCDC88C | c.5172G= (p.Met1724=) c.744G= (p.Met248=) n.984G= c.1400G= c.5064G= (p.Met1688=) n.5447G= c.2253G= (p.Met751=) n.5445G= | |
| 14 | g.91273540C>G | CA390610724 | CCDC88C | c.5172G>C (p.Met1724Ile) c.744G>C (p.Met248Ile) n.984G>C c.1400G>C c.5064G>C (p.Met1688Ile) n.5447G>C c.2253G>C (p.Met751Ile) n.5445G>C | dbSNP |
| 14 | g.91273540C>T | CA390610725 | CCDC88C | c.5172G>A (p.Met1724Ile) c.744G>A (p.Met248Ile) n.984G>A c.1400G>A c.5064G>A (p.Met1688Ile) n.5447G>A c.2253G>A (p.Met751Ile) n.5445G>A | gnomAD v4 |
| 14 | g.91273541A>C | CA390610726 | CCDC88C | c.5171T>G (p.Met1724Arg) c.743T>G (p.Met248Arg) n.983T>G c.1399T>G c.5063T>G (p.Met1688Arg) n.5446T>G c.2252T>G (p.Met751Arg) n.5444T>G | |
| 14 | g.91273541A>G | CA390610727 | CCDC88C | c.5171T>C (p.Met1724Thr) c.743T>C (p.Met248Thr) n.983T>C c.1399T>C c.5063T>C (p.Met1688Thr) n.5446T>C c.2252T>C (p.Met751Thr) n.5444T>C | |
| 14 | g.91273541A>T | CA390610728 | CCDC88C | c.5171T>A (p.Met1724Lys) c.743T>A (p.Met248Lys) n.983T>A c.1399T>A c.5063T>A (p.Met1688Lys) n.5446T>A c.2252T>A (p.Met751Lys) n.5444T>A | |
| 14 | g.91273542T>A | CA390610731 | CCDC88C | c.5170A>T (p.Met1724Leu) c.742A>T (p.Met248Leu) n.982A>T c.1398A>T c.5062A>T (p.Met1688Leu) n.5445A>T c.2251A>T (p.Met751Leu) n.5443A>T | |
| 14 | g.91273542T>C | CA390610729 | CCDC88C | c.5170A>G (p.Met1724Val) c.742A>G (p.Met248Val) n.982A>G c.1398A>G c.5062A>G (p.Met1688Val) n.5445A>G c.2251A>G (p.Met751Val) n.5443A>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91273542T>G | CA390610730 | CCDC88C | c.5170A>C (p.Met1724Leu) c.742A>C (p.Met248Leu) n.982A>C c.1398A>C c.5062A>C (p.Met1688Leu) n.5445A>C c.2251A>C (p.Met751Leu) n.5443A>C | |
| 14 | g.91273542T= | CA2154902662 | CCDC88C | c.5170A= (p.Met1724=) c.742A= (p.Met248=) n.982A= c.1398A= c.5062A= (p.Met1688=) n.5445A= c.2251A= (p.Met751=) n.5443A= | |
| 14 | g.91273543C>A | CA390610732 | CCDC88C | c.5169G>T (p.Lys1723Asn) c.741G>T (p.Lys247Asn) n.981G>T c.1397G>T c.5061G>T (p.Lys1687Asn) n.5444G>T c.2250G>T (p.Lys750Asn) n.5442G>T | gnomAD v4 |
| 14 | g.91273543C= | CA2154902666 | CCDC88C | c.5169G= (p.Lys1723=) c.741G= (p.Lys247=) n.981G= c.1397G= c.5061G= (p.Lys1687=) n.5444G= c.2250G= (p.Lys750=) n.5442G= | |
| 14 | g.91273543C>G | CA390610733 | CCDC88C | c.5169G>C (p.Lys1723Asn) c.741G>C (p.Lys247Asn) n.981G>C c.1397G>C c.5061G>C (p.Lys1687Asn) n.5444G>C c.2250G>C (p.Lys750Asn) n.5442G>C | |
| 14 | g.91273543C>T | CA487829335 | CCDC88C | c.5169G>A (p.Lys1723=) c.741G>A (p.Lys247=) n.981G>A c.1397G>A c.5061G>A (p.Lys1687=) n.5444G>A c.2250G>A (p.Lys750=) n.5442G>A | dbSNP gnomAD v4 |
| 14 | g.91273544T>A | CA390610734 | CCDC88C | c.5168A>T (p.Lys1723Met) c.740A>T (p.Lys247Met) n.980A>T c.1396A>T c.5060A>T (p.Lys1687Met) n.5443A>T c.2249A>T (p.Lys750Met) n.5441A>T | |
| 14 | g.91273544T>C | CA390610735 | CCDC88C | c.5168A>G (p.Lys1723Arg) c.740A>G (p.Lys247Arg) n.980A>G c.1396A>G c.5060A>G (p.Lys1687Arg) n.5443A>G c.2249A>G (p.Lys750Arg) n.5441A>G | gnomAD v4 |
| 14 | g.91273544T>G | CA390610736 | CCDC88C | c.5168A>C (p.Lys1723Thr) c.740A>C (p.Lys247Thr) n.980A>C c.1396A>C c.5060A>C (p.Lys1687Thr) n.5443A>C c.2249A>C (p.Lys750Thr) n.5441A>C | |
| 14 | g.91273545T>A | CA390610737 | CCDC88C | c.5167A>T (p.Lys1723Ter) c.739A>T (p.Lys247Ter) n.979A>T c.1395A>T c.5059A>T (p.Lys1687Ter) n.5442A>T c.2248A>T (p.Lys750Ter) n.5440A>T | |
| 14 | g.91273545T>C | CA390610738 | CCDC88C | c.5167A>G (p.Lys1723Glu) c.739A>G (p.Lys247Glu) n.979A>G c.1395A>G c.5059A>G (p.Lys1687Glu) n.5442A>G c.2248A>G (p.Lys750Glu) n.5440A>G | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91273545T>G | CA390610739 | CCDC88C | c.5167A>C (p.Lys1723Gln) c.739A>C (p.Lys247Gln) n.979A>C c.1395A>C c.5059A>C (p.Lys1687Gln) n.5442A>C c.2248A>C (p.Lys750Gln) n.5440A>C | |
| 14 | g.91273545T= | CA2154902670 | CCDC88C | c.5167A= (p.Lys1723=) c.739A= (p.Lys247=) n.979A= c.1395A= c.5059A= (p.Lys1687=) n.5442A= c.2248A= (p.Lys750=) n.5440A= | |
| 14 | g.91273546G>A | CA487829338 | CCDC88C | c.5166C>T (p.Ala1722=) c.738C>T (p.Ala246=) n.978C>T c.1394C>T c.5058C>T (p.Ala1686=) n.5441C>T c.2247C>T (p.Ala749=) n.5439C>T | gnomAD v4 |
| 14 | g.91273546G>C | CA487829337 | CCDC88C | c.5166C>G (p.Ala1722=) c.738C>G (p.Ala246=) n.978C>G c.1394C>G c.5058C>G (p.Ala1686=) n.5441C>G c.2247C>G (p.Ala749=) n.5439C>G | gnomAD v4 |
| 14 | g.91273546G>T | CA487829336 | CCDC88C | c.5166C>A (p.Ala1722=) c.738C>A (p.Ala246=) n.978C>A c.1394C>A c.5058C>A (p.Ala1686=) n.5441C>A c.2247C>A (p.Ala749=) n.5439C>A | gnomAD v4 |
| 14 | g.91273547G>A | CA390610740 | CCDC88C | c.5165C>T (p.Ala1722Val) c.737C>T (p.Ala246Val) n.977C>T c.1393C>T c.5057C>T (p.Ala1686Val) n.5440C>T c.2246C>T (p.Ala749Val) n.5438C>T | gnomAD v4 |
| 14 | g.91273547G>C | CA390610741 | CCDC88C | c.5165C>G (p.Ala1722Gly) c.737C>G (p.Ala246Gly) n.977C>G c.1393C>G c.5057C>G (p.Ala1686Gly) n.5440C>G c.2246C>G (p.Ala749Gly) n.5438C>G | |
| 14 | g.91273547G= | CA2154902673 | CCDC88C | c.5165C= (p.Ala1722=) c.737C= (p.Ala246=) n.977C= c.1393C= c.5057C= (p.Ala1686=) n.5440C= c.2246C= (p.Ala749=) n.5438C= | |
| 14 | g.91273547G>T | CA390610742 | CCDC88C | c.5165C>A (p.Ala1722Asp) c.737C>A (p.Ala246Asp) n.977C>A c.1393C>A c.5057C>A (p.Ala1686Asp) n.5440C>A c.2246C>A (p.Ala749Asp) n.5438C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273548C>A | CA390610745 | CCDC88C | c.5164G>T (p.Ala1722Ser) c.736G>T (p.Ala246Ser) n.976G>T c.1392G>T c.5056G>T (p.Ala1686Ser) n.5439G>T c.2245G>T (p.Ala749Ser) n.5437G>T | gnomAD v4 |
| 14 | g.91273548C>G | CA390610744 | CCDC88C | c.5164G>C (p.Ala1722Pro) c.736G>C (p.Ala246Pro) n.976G>C c.1392G>C c.5056G>C (p.Ala1686Pro) n.5439G>C c.2245G>C (p.Ala749Pro) n.5437G>C | |
| 14 | g.91273548C>T | CA390610743 | CCDC88C | c.5164G>A (p.Ala1722Thr) c.736G>A (p.Ala246Thr) n.976G>A c.1392G>A c.5056G>A (p.Ala1686Thr) n.5439G>A c.2245G>A (p.Ala749Thr) n.5437G>A | COSMIC COSMIC COSMIC |
| 14 | g.91273549C>A | CA487829339 | CCDC88C | c.5163G>T (p.Gly1721=) c.735G>T (p.Gly245=) n.975G>T c.1391G>T c.5055G>T (p.Gly1685=) n.5438G>T c.2244G>T (p.Gly748=) n.5436G>T | gnomAD v4 |
| 14 | g.91273549C= | CA2154902678 | CCDC88C | c.5163G= (p.Gly1721=) c.735G= (p.Gly245=) n.975G= c.1391G= c.5055G= (p.Gly1685=) n.5438G= c.2244G= (p.Gly748=) n.5436G= | |
| 14 | g.91273549C>G | CA487829340 | CCDC88C | c.5163G>C (p.Gly1721=) c.735G>C (p.Gly245=) n.975G>C c.1391G>C c.5055G>C (p.Gly1685=) n.5438G>C c.2244G>C (p.Gly748=) n.5436G>C | |
| 14 | g.91273549C>T | CA7308718 | CCDC88C | c.5163G>A (p.Gly1721=) c.735G>A (p.Gly245=) n.975G>A c.1391G>A c.5055G>A (p.Gly1685=) n.5438G>A c.2244G>A (p.Gly748=) n.5436G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273550C>A | CA390610746 | CCDC88C | c.5162G>T (p.Gly1721Val) c.734G>T (p.Gly245Val) n.974G>T c.1390G>T c.5054G>T (p.Gly1685Val) n.5437G>T c.2243G>T (p.Gly748Val) n.5435G>T | gnomAD v4 |
| 14 | g.91273550C>G | CA390610747 | CCDC88C | c.5162G>C (p.Gly1721Ala) c.734G>C (p.Gly245Ala) n.974G>C c.1390G>C c.5054G>C (p.Gly1685Ala) n.5437G>C c.2243G>C (p.Gly748Ala) n.5435G>C | |
| 14 | g.91273550C>T | CA390610748 | CCDC88C | c.5162G>A (p.Gly1721Glu) c.734G>A (p.Gly245Glu) n.974G>A c.1390G>A c.5054G>A (p.Gly1685Glu) n.5437G>A c.2243G>A (p.Gly748Glu) n.5435G>A | gnomAD v4 |
| 14 | g.91273550_91273553delinsCCTT | CA2154902680 | CCDC88C | c.5159_5162delinsAAGG (p.Glu1720=) c.731_734delinsAAGG (p.Glu244=) n.971_974delinsAAGG c.1387_1390delinsAAGG c.5051_5054delinsAAGG (p.Glu1684=) n.5434_5437delinsAAGG c.2240_2243delinsAAGG (p.Glu747=) n.5432_5435delinsAAGG | |
| 14 | g.91273551C>A | CA390610749 | CCDC88C | c.5161G>T (p.Gly1721Trp) c.733G>T (p.Gly245Trp) n.973G>T c.1389G>T c.5053G>T (p.Gly1685Trp) n.5436G>T c.2242G>T (p.Gly748Trp) n.5434G>T | gnomAD v4 |
| 14 | g.91273551C= | CA2154902684 | CCDC88C | c.5161G= (p.Gly1721=) c.733G= (p.Gly245=) n.973G= c.1389G= c.5053G= (p.Gly1685=) n.5436G= c.2242G= (p.Gly748=) n.5434G= | |
| 14 | g.91273551C>G | CA390610750 | CCDC88C | c.5161G>C (p.Gly1721Arg) c.733G>C (p.Gly245Arg) n.973G>C c.1389G>C c.5053G>C (p.Gly1685Arg) n.5436G>C c.2242G>C (p.Gly748Arg) n.5434G>C | |
| 14 | g.91273551C>T | CA7308720 | CCDC88C | c.5161G>A (p.Gly1721Arg) c.733G>A (p.Gly245Arg) n.973G>A c.1389G>A c.5053G>A (p.Gly1685Arg) n.5436G>A c.2242G>A (p.Gly748Arg) n.5434G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273554_91273556del | CA7308719 | CCDC88C | c.5159_5161del (p.Glu1720del) c.731_733del (p.Glu244del) n.971_973del c.1387_1389del c.5051_5053del (p.Glu1684del) n.5434_5436del c.2240_2242del (p.Glu747del) n.5432_5434del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273552T>A | CA390610751 | CCDC88C | c.5160A>T (p.Glu1720Asp) c.732A>T (p.Glu244Asp) n.972A>T c.1388A>T c.5052A>T (p.Glu1684Asp) n.5435A>T c.2241A>T (p.Glu747Asp) n.5433A>T | |
| 14 | g.91273552T>C | CA487829341 | CCDC88C | c.5160A>G (p.Glu1720=) c.732A>G (p.Glu244=) n.972A>G c.1388A>G c.5052A>G (p.Glu1684=) n.5435A>G c.2241A>G (p.Glu747=) n.5433A>G | |
| 14 | g.91273552T>G | CA390610752 | CCDC88C | c.5160A>C (p.Glu1720Asp) c.732A>C (p.Glu244Asp) n.972A>C c.1388A>C c.5052A>C (p.Glu1684Asp) n.5435A>C c.2241A>C (p.Glu747Asp) n.5433A>C | |
| 14 | g.91273553T>A | CA390610753 | CCDC88C | c.5159A>T (p.Glu1720Val) c.731A>T (p.Glu244Val) n.971A>T c.1387A>T c.5051A>T (p.Glu1684Val) n.5434A>T c.2240A>T (p.Glu747Val) n.5432A>T | |
| 14 | g.91273553T>C | CA390610754 | CCDC88C | c.5159A>G (p.Glu1720Gly) c.731A>G (p.Glu244Gly) n.971A>G c.1387A>G c.5051A>G (p.Glu1684Gly) n.5434A>G c.2240A>G (p.Glu747Gly) n.5432A>G | |
| 14 | g.91273553T>G | CA390610755 | CCDC88C | c.5159A>C (p.Glu1720Ala) c.731A>C (p.Glu244Ala) n.971A>C c.1387A>C c.5051A>C (p.Glu1684Ala) n.5434A>C c.2240A>C (p.Glu747Ala) n.5432A>C | |
| 14 | g.91273554C>A | CA390610758 | CCDC88C | c.5158G>T (p.Glu1720Ter) c.730G>T (p.Glu244Ter) n.970G>T c.1386G>T c.5050G>T (p.Glu1684Ter) n.5433G>T c.2239G>T (p.Glu747Ter) n.5431G>T | |
| 14 | g.91273554C>G | CA390610756 | CCDC88C | c.5158G>C (p.Glu1720Gln) c.730G>C (p.Glu244Gln) n.970G>C c.1386G>C c.5050G>C (p.Glu1684Gln) n.5433G>C c.2239G>C (p.Glu747Gln) n.5431G>C | |
| 14 | g.91273554C>T | CA390610757 | CCDC88C | c.5158G>A (p.Glu1720Lys) c.730G>A (p.Glu244Lys) n.970G>A c.1386G>A c.5050G>A (p.Glu1684Lys) n.5433G>A c.2239G>A (p.Glu747Lys) n.5431G>A | COSMIC COSMIC COSMIC |
| 14 | g.91273555T>A | CA390610759 | CCDC88C | c.5157A>T (p.Lys1719Asn) c.729A>T (p.Lys243Asn) n.969A>T c.1385A>T c.5049A>T (p.Lys1683Asn) n.5432A>T c.2238A>T (p.Lys746Asn) n.5430A>T | |
| 14 | g.91273555T>C | CA487829342 | CCDC88C | c.5157A>G (p.Lys1719=) c.729A>G (p.Lys243=) n.969A>G c.1385A>G c.5049A>G (p.Lys1683=) n.5432A>G c.2238A>G (p.Lys746=) n.5430A>G | gnomAD v4 |
| 14 | g.91273555T>G | CA390610760 | CCDC88C | c.5157A>C (p.Lys1719Asn) c.729A>C (p.Lys243Asn) n.969A>C c.1385A>C c.5049A>C (p.Lys1683Asn) n.5432A>C c.2238A>C (p.Lys746Asn) n.5430A>C | |
| 14 | g.91273556T>A | CA390610761 | CCDC88C | c.5156A>T (p.Lys1719Ile) c.728A>T (p.Lys243Ile) n.968A>T c.1384A>T c.5048A>T (p.Lys1683Ile) n.5431A>T c.2237A>T (p.Lys746Ile) n.5429A>T | |
| 14 | g.91273556T>C | CA390610762 | CCDC88C | c.5156A>G (p.Lys1719Arg) c.728A>G (p.Lys243Arg) n.968A>G c.1384A>G c.5048A>G (p.Lys1683Arg) n.5431A>G c.2237A>G (p.Lys746Arg) n.5429A>G | |
| 14 | g.91273556T>G | CA390610763 | CCDC88C | c.5156A>C (p.Lys1719Thr) c.728A>C (p.Lys243Thr) n.968A>C c.1384A>C c.5048A>C (p.Lys1683Thr) n.5431A>C c.2237A>C (p.Lys746Thr) n.5429A>C | COSMIC COSMIC COSMIC |
| 14 | g.91273557T>A | CA390610764 | CCDC88C | c.5155A>T (p.Lys1719Ter) c.727A>T (p.Lys243Ter) n.967A>T c.1383A>T c.5047A>T (p.Lys1683Ter) n.5430A>T c.2236A>T (p.Lys746Ter) n.5428A>T | |
| 14 | g.91273557T>C | CA390610765 | CCDC88C | c.5155A>G (p.Lys1719Glu) c.727A>G (p.Lys243Glu) n.967A>G c.1383A>G c.5047A>G (p.Lys1683Glu) n.5430A>G c.2236A>G (p.Lys746Glu) n.5428A>G | |
| 14 | g.91273557T>G | CA390610766 | CCDC88C | c.5155A>C (p.Lys1719Gln) c.727A>C (p.Lys243Gln) n.967A>C c.1383A>C c.5047A>C (p.Lys1683Gln) n.5430A>C c.2236A>C (p.Lys746Gln) n.5428A>C | gnomAD v4 |
| 14 | g.91273558C>A | CA390610767 | CCDC88C | c.5154G>T (p.Lys1718Asn) c.726G>T (p.Lys242Asn) n.966G>T c.1382G>T c.5046G>T (p.Lys1682Asn) n.5429G>T c.2235G>T (p.Lys745Asn) n.5427G>T | |
| 14 | g.91273558C>G | CA390610768 | CCDC88C | c.5154G>C (p.Lys1718Asn) c.726G>C (p.Lys242Asn) n.966G>C c.1382G>C c.5046G>C (p.Lys1682Asn) n.5429G>C c.2235G>C (p.Lys745Asn) n.5427G>C | |
| 14 | g.91273558C>T | CA487829343 | CCDC88C | c.5154G>A (p.Lys1718=) c.726G>A (p.Lys242=) n.966G>A c.1382G>A c.5046G>A (p.Lys1682=) n.5429G>A c.2235G>A (p.Lys745=) n.5427G>A | |
| 14 | g.91273559T>A | CA390610769 | CCDC88C | c.5153A>T (p.Lys1718Met) c.725A>T (p.Lys242Met) n.965A>T c.1381A>T c.5045A>T (p.Lys1682Met) n.5428A>T c.2234A>T (p.Lys745Met) n.5426A>T | |
| 14 | g.91273559T>C | CA390610770 | CCDC88C | c.5153A>G (p.Lys1718Arg) c.725A>G (p.Lys242Arg) n.965A>G c.1381A>G c.5045A>G (p.Lys1682Arg) n.5428A>G c.2234A>G (p.Lys745Arg) n.5426A>G | gnomAD v4 |
| 14 | g.91273559T>G | CA390610771 | CCDC88C | c.5153A>C (p.Lys1718Thr) c.725A>C (p.Lys242Thr) n.965A>C c.1381A>C c.5045A>C (p.Lys1682Thr) n.5428A>C c.2234A>C (p.Lys745Thr) n.5426A>C | gnomAD v4 |
| 14 | g.91273560T>A | CA390610773 | CCDC88C | c.5152A>T (p.Lys1718Ter) c.724A>T (p.Lys242Ter) n.964A>T c.1380A>T c.5044A>T (p.Lys1682Ter) n.5427A>T c.2233A>T (p.Lys745Ter) n.5425A>T | |
| 14 | g.91273560T>C | CA390610774 | CCDC88C | c.5152A>G (p.Lys1718Glu) c.724A>G (p.Lys242Glu) n.964A>G c.1380A>G c.5044A>G (p.Lys1682Glu) n.5427A>G c.2233A>G (p.Lys745Glu) n.5425A>G | |
| 14 | g.91273560T>G | CA390610772 | CCDC88C | c.5152A>C (p.Lys1718Gln) c.724A>C (p.Lys242Gln) n.964A>C c.1380A>C c.5044A>C (p.Lys1682Gln) n.5427A>C c.2233A>C (p.Lys745Gln) n.5425A>C | |
| 14 | g.91273561G>A | CA487829346 | CCDC88C | c.5151C>T (p.Ala1717=) c.723C>T (p.Ala241=) n.963C>T c.1379C>T c.5043C>T (p.Ala1681=) n.5426C>T c.2232C>T (p.Ala744=) n.5424C>T | ClinVar dbSNP |
| 14 | g.91273561G>C | CA487829345 | CCDC88C | c.5151C>G (p.Ala1717=) c.723C>G (p.Ala241=) n.963C>G c.1379C>G c.5043C>G (p.Ala1681=) n.5426C>G c.2232C>G (p.Ala744=) n.5424C>G | |
| 14 | g.91273561G= | CA2154902693 | CCDC88C | c.5151C= (p.Ala1717=) c.723C= (p.Ala241=) n.963C= c.1379C= c.5043C= (p.Ala1681=) n.5426C= c.2232C= (p.Ala744=) n.5424C= | |
| 14 | g.91273561G>T | CA487829344 | CCDC88C | c.5151C>A (p.Ala1717=) c.723C>A (p.Ala241=) n.963C>A c.1379C>A c.5043C>A (p.Ala1681=) n.5426C>A c.2232C>A (p.Ala744=) n.5424C>A | gnomAD v4 |
| 14 | g.91273562G>A | CA7308721 | CCDC88C | c.5150C>T (p.Ala1717Val) c.722C>T (p.Ala241Val) n.962C>T c.1378C>T c.5042C>T (p.Ala1681Val) n.5425C>T c.2231C>T (p.Ala744Val) n.5423C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273562G>C | CA390610775 | CCDC88C | c.5150C>G (p.Ala1717Gly) c.722C>G (p.Ala241Gly) n.962C>G c.1378C>G c.5042C>G (p.Ala1681Gly) n.5425C>G c.2231C>G (p.Ala744Gly) n.5423C>G | |
| 14 | g.91273562G= | CA2154902697 | CCDC88C | c.5150C= (p.Ala1717=) c.722C= (p.Ala241=) n.962C= c.1378C= c.5042C= (p.Ala1681=) n.5425C= c.2231C= (p.Ala744=) n.5423C= | |
| 14 | g.91273562G>T | CA390610776 | CCDC88C | c.5150C>A (p.Ala1717Asp) c.722C>A (p.Ala241Asp) n.962C>A c.1378C>A c.5042C>A (p.Ala1681Asp) n.5425C>A c.2231C>A (p.Ala744Asp) n.5423C>A | |
| 14 | g.91273563C>A | CA390610777 | CCDC88C | c.5149G>T (p.Ala1717Ser) c.721G>T (p.Ala241Ser) n.961G>T c.1377G>T c.5041G>T (p.Ala1681Ser) n.5424G>T c.2230G>T (p.Ala744Ser) n.5422G>T | gnomAD v4 |
| 14 | g.91273563C= | CA2154902701 | CCDC88C | c.5149G= (p.Ala1717=) c.721G= (p.Ala241=) n.961G= c.1377G= c.5041G= (p.Ala1681=) n.5424G= c.2230G= (p.Ala744=) n.5422G= | |
| 14 | g.91273563C>G | CA390610778 | CCDC88C | c.5149G>C (p.Ala1717Pro) c.721G>C (p.Ala241Pro) n.961G>C c.1377G>C c.5041G>C (p.Ala1681Pro) n.5424G>C c.2230G>C (p.Ala744Pro) n.5422G>C | |
| 14 | g.91273563C>T | CA390610779 | CCDC88C | c.5149G>A (p.Ala1717Thr) c.721G>A (p.Ala241Thr) n.961G>A c.1377G>A c.5041G>A (p.Ala1681Thr) n.5424G>A c.2230G>A (p.Ala744Thr) n.5422G>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91273564A>C | CA487829347 | CCDC88C | c.5148T>G (p.Pro1716=) c.720T>G (p.Pro240=) n.960T>G c.1376T>G c.5040T>G (p.Pro1680=) n.5423T>G c.2229T>G (p.Pro743=) n.5421T>G | gnomAD v4 |
| 14 | g.91273564A>G | CA487829348 | CCDC88C | c.5148T>C (p.Pro1716=) c.720T>C (p.Pro240=) n.960T>C c.1376T>C c.5040T>C (p.Pro1680=) n.5423T>C c.2229T>C (p.Pro743=) n.5421T>C | |
| 14 | g.91273564A>T | CA487829349 | CCDC88C | c.5148T>A (p.Pro1716=) c.720T>A (p.Pro240=) n.960T>A c.1376T>A c.5040T>A (p.Pro1680=) n.5423T>A c.2229T>A (p.Pro743=) n.5421T>A | |
| 14 | g.91273565G>A | CA7308722 | CCDC88C | c.5147C>T (p.Pro1716Leu) c.719C>T (p.Pro240Leu) n.959C>T c.1375C>T c.5039C>T (p.Pro1680Leu) n.5422C>T c.2228C>T (p.Pro743Leu) n.5420C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273565G>C | CA390610780 | CCDC88C | c.5147C>G (p.Pro1716Arg) c.719C>G (p.Pro240Arg) n.959C>G c.1375C>G c.5039C>G (p.Pro1680Arg) n.5422C>G c.2228C>G (p.Pro743Arg) n.5420C>G | |
| 14 | g.91273565G= | CA2154902705 | CCDC88C | c.5147C= (p.Pro1716=) c.719C= (p.Pro240=) n.959C= c.1375C= c.5039C= (p.Pro1680=) n.5422C= c.2228C= (p.Pro743=) n.5420C= | |
| 14 | g.91273565G>T | CA390610781 | CCDC88C | c.5147C>A (p.Pro1716His) c.719C>A (p.Pro240His) n.959C>A c.1375C>A c.5039C>A (p.Pro1680His) n.5422C>A c.2228C>A (p.Pro743His) n.5420C>A | |
| 14 | g.91273566G>A | CA390610784 | CCDC88C | c.5146C>T (p.Pro1716Ser) c.718C>T (p.Pro240Ser) n.958C>T c.1374C>T c.5038C>T (p.Pro1680Ser) n.5421C>T c.2227C>T (p.Pro743Ser) n.5419C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273566G>C | CA390610783 | CCDC88C | c.5146C>G (p.Pro1716Ala) c.718C>G (p.Pro240Ala) n.958C>G c.1374C>G c.5038C>G (p.Pro1680Ala) n.5421C>G c.2227C>G (p.Pro743Ala) n.5419C>G | |
| 14 | g.91273566G= | CA2154902707 | CCDC88C | c.5146C= (p.Pro1716=) c.718C= (p.Pro240=) n.958C= c.1374C= c.5038C= (p.Pro1680=) n.5421C= c.2227C= (p.Pro743=) n.5419C= | |
| 14 | g.91273566G>T | CA390610782 | CCDC88C | c.5146C>A (p.Pro1716Thr) c.718C>A (p.Pro240Thr) n.958C>A c.1374C>A c.5038C>A (p.Pro1680Thr) n.5421C>A c.2227C>A (p.Pro743Thr) n.5419C>A | |
| 14 | g.91273567T>A | CA487829351 | CCDC88C | c.5145A>T (p.Pro1715=) c.717A>T (p.Pro239=) n.957A>T c.1373A>T c.5037A>T (p.Pro1679=) n.5420A>T c.2226A>T (p.Pro742=) n.5418A>T | |
| 14 | g.91273567T>C | CA487829350 | CCDC88C | c.5145A>G (p.Pro1715=) c.717A>G (p.Pro239=) n.957A>G c.1373A>G c.5037A>G (p.Pro1679=) n.5420A>G c.2226A>G (p.Pro742=) n.5418A>G | |
| 14 | g.91273567T>G | CA7308723 | CCDC88C | c.5145A>C (p.Pro1715=) c.717A>C (p.Pro239=) n.957A>C c.1373A>C c.5037A>C (p.Pro1679=) n.5420A>C c.2226A>C (p.Pro742=) n.5418A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273567T= | CA2154902710 | CCDC88C | c.5145A= (p.Pro1715=) c.717A= (p.Pro239=) n.957A= c.1373A= c.5037A= (p.Pro1679=) n.5420A= c.2226A= (p.Pro742=) n.5418A= | |
| 14 | g.91273568G>A | CA390610785 | CCDC88C | c.5144C>T (p.Pro1715Leu) c.716C>T (p.Pro239Leu) n.956C>T c.1372C>T c.5036C>T (p.Pro1679Leu) n.5419C>T c.2225C>T (p.Pro742Leu) n.5417C>T | gnomAD v4 |
| 14 | g.91273568G>C | CA390610786 | CCDC88C | c.5144C>G (p.Pro1715Arg) c.716C>G (p.Pro239Arg) n.956C>G c.1372C>G c.5036C>G (p.Pro1679Arg) n.5419C>G c.2225C>G (p.Pro742Arg) n.5417C>G | gnomAD v4 |
| 14 | g.91273568G>T | CA390610787 | CCDC88C | c.5144C>A (p.Pro1715Gln) c.716C>A (p.Pro239Gln) n.956C>A c.1372C>A c.5036C>A (p.Pro1679Gln) n.5419C>A c.2225C>A (p.Pro742Gln) n.5417C>A | gnomAD v4 |
| 14 | g.91273569G>A | CA390610788 | CCDC88C | c.5143C>T (p.Pro1715Ser) c.715C>T (p.Pro239Ser) n.955C>T c.1371C>T c.5035C>T (p.Pro1679Ser) n.5418C>T c.2224C>T (p.Pro742Ser) n.5416C>T | |
| 14 | g.91273569G>C | CA390610789 | CCDC88C | c.5143C>G (p.Pro1715Ala) c.715C>G (p.Pro239Ala) n.955C>G c.1371C>G c.5035C>G (p.Pro1679Ala) n.5418C>G c.2224C>G (p.Pro742Ala) n.5416C>G | |
| 14 | g.91273569G>T | CA390610790 | CCDC88C | c.5143C>A (p.Pro1715Thr) c.715C>A (p.Pro239Thr) n.955C>A c.1371C>A c.5035C>A (p.Pro1679Thr) n.5418C>A c.2224C>A (p.Pro742Thr) n.5416C>A | |
| 14 | g.91273570T>A | CA487829352 | CCDC88C | c.5142A>T (p.Gly1714=) c.714A>T (p.Gly238=) n.954A>T c.1370A>T c.5034A>T (p.Gly1678=) n.5417A>T c.2223A>T (p.Gly741=) n.5415A>T | |
| 14 | g.91273570T>C | CA487829353 | CCDC88C | c.5142A>G (p.Gly1714=) c.714A>G (p.Gly238=) n.954A>G c.1370A>G c.5034A>G (p.Gly1678=) n.5417A>G c.2223A>G (p.Gly741=) n.5415A>G | gnomAD v4 |
| 14 | g.91273570T>G | CA487829354 | CCDC88C | c.5142A>C (p.Gly1714=) c.714A>C (p.Gly238=) n.954A>C c.1370A>C c.5034A>C (p.Gly1678=) n.5417A>C c.2223A>C (p.Gly741=) n.5415A>C | dbSNP |
| 14 | g.91273570T= | CA2154902713 | CCDC88C | c.5142A= (p.Gly1714=) c.714A= (p.Gly238=) n.954A= c.1370A= c.5034A= (p.Gly1678=) n.5417A= c.2223A= (p.Gly741=) n.5415A= | |
| 14 | g.91273571C>A | CA390610791 | CCDC88C | c.5141G>T (p.Gly1714Val) c.713G>T (p.Gly238Val) n.953G>T c.1369G>T c.5033G>T (p.Gly1678Val) n.5416G>T c.2222G>T (p.Gly741Val) n.5414G>T | |
| 14 | g.91273571C= | CA2154902714 | CCDC88C | c.5141G= (p.Gly1714=) c.713G= (p.Gly238=) n.953G= c.1369G= c.5033G= (p.Gly1678=) n.5416G= c.2222G= (p.Gly741=) n.5414G= | |
| 14 | g.91273571C>G | CA390610792 | CCDC88C | c.5141G>C (p.Gly1714Ala) c.713G>C (p.Gly238Ala) n.953G>C c.1369G>C c.5033G>C (p.Gly1678Ala) n.5416G>C c.2222G>C (p.Gly741Ala) n.5414G>C | |
| 14 | g.91273571C>T | CA265518576 | CCDC88C | c.5141G>A (p.Gly1714Glu) c.713G>A (p.Gly238Glu) n.953G>A c.1369G>A c.5033G>A (p.Gly1678Glu) n.5416G>A c.2222G>A (p.Gly741Glu) n.5414G>A | dbSNP gnomAD v4 |
| 14 | g.91273572C>A | CA390610793 | CCDC88C | c.5140G>T (p.Gly1714Ter) c.712G>T (p.Gly238Ter) n.952G>T c.1368G>T c.5032G>T (p.Gly1678Ter) n.5415G>T c.2221G>T (p.Gly741Ter) n.5413G>T | gnomAD v4 |
| 14 | g.91273572C>G | CA390610794 | CCDC88C | c.5140G>C (p.Gly1714Arg) c.712G>C (p.Gly238Arg) n.952G>C c.1368G>C c.5032G>C (p.Gly1678Arg) n.5415G>C c.2221G>C (p.Gly741Arg) n.5413G>C | |
| 14 | g.91273572C>T | CA390610795 | CCDC88C | c.5140G>A (p.Gly1714Arg) c.712G>A (p.Gly238Arg) n.952G>A c.1368G>A c.5032G>A (p.Gly1678Arg) n.5415G>A c.2221G>A (p.Gly741Arg) n.5413G>A | |
| 14 | g.91273573T>A | CA487829355 | CCDC88C | c.5139A>T (p.Pro1713=) c.711A>T (p.Pro237=) n.951A>T c.1367A>T c.5031A>T (p.Pro1677=) n.5414A>T c.2220A>T (p.Pro740=) n.5412A>T | |
| 14 | g.91273573T>C | CA7308724 | CCDC88C | c.5139A>G (p.Pro1713=) c.711A>G (p.Pro237=) n.951A>G c.1367A>G c.5031A>G (p.Pro1677=) n.5414A>G c.2220A>G (p.Pro740=) n.5412A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91273573T>G | CA487829356 | CCDC88C | c.5139A>C (p.Pro1713=) c.711A>C (p.Pro237=) n.951A>C c.1367A>C c.5031A>C (p.Pro1677=) n.5414A>C c.2220A>C (p.Pro740=) n.5412A>C | |
| 14 | g.91273573T= | CA2154902716 | CCDC88C | c.5139A= (p.Pro1713=) c.711A= (p.Pro237=) n.951A= c.1367A= c.5031A= (p.Pro1677=) n.5414A= c.2220A= (p.Pro740=) n.5412A= | |
| 14 | g.91273574G>A | CA390610796 | CCDC88C | c.5138C>T (p.Pro1713Leu) c.710C>T (p.Pro237Leu) n.950C>T c.1366C>T c.5030C>T (p.Pro1677Leu) n.5413C>T c.2219C>T (p.Pro740Leu) n.5411C>T | |
| 14 | g.91273574G>C | CA390610797 | CCDC88C | c.5138C>G (p.Pro1713Arg) c.710C>G (p.Pro237Arg) n.950C>G c.1366C>G c.5030C>G (p.Pro1677Arg) n.5413C>G c.2219C>G (p.Pro740Arg) n.5411C>G | |
| 14 | g.91273574G>T | CA390610798 | CCDC88C | c.5138C>A (p.Pro1713Gln) c.710C>A (p.Pro237Gln) n.950C>A c.1366C>A c.5030C>A (p.Pro1677Gln) n.5413C>A c.2219C>A (p.Pro740Gln) n.5411C>A | gnomAD v4 |
| 14 | g.91273575G>A | CA390610799 | CCDC88C | c.5137C>T (p.Pro1713Ser) c.709C>T (p.Pro237Ser) n.949C>T c.1365C>T c.5029C>T (p.Pro1677Ser) n.5412C>T c.2218C>T (p.Pro740Ser) n.5410C>T | gnomAD v4 |
| 14 | g.91273575G>C | CA390610800 | CCDC88C | c.5137C>G (p.Pro1713Ala) c.709C>G (p.Pro237Ala) n.949C>G c.1365C>G c.5029C>G (p.Pro1677Ala) n.5412C>G c.2218C>G (p.Pro740Ala) n.5410C>G | |
| 14 | g.91273575G>T | CA390610801 | CCDC88C | c.5137C>A (p.Pro1713Thr) c.709C>A (p.Pro237Thr) n.949C>A c.1365C>A c.5029C>A (p.Pro1677Thr) n.5412C>A c.2218C>A (p.Pro740Thr) n.5410C>A | |
| 14 | g.91273576T>A | CA390610802 | CCDC88C | c.5136A>T (p.Gln1712His) c.708A>T (p.Gln236His) n.948A>T c.1364A>T c.5028A>T (p.Gln1676His) n.5411A>T c.2217A>T (p.Gln739His) n.5409A>T | |
| 14 | g.91273576T>C | CA487829357 | CCDC88C | c.5136A>G (p.Gln1712=) c.708A>G (p.Gln236=) n.948A>G c.1364A>G c.5028A>G (p.Gln1676=) n.5411A>G c.2217A>G (p.Gln739=) n.5409A>G | |
| 14 | g.91273576T>G | CA390610803 | CCDC88C | c.5136A>C (p.Gln1712His) c.708A>C (p.Gln236His) n.948A>C c.1364A>C c.5028A>C (p.Gln1676His) n.5411A>C c.2217A>C (p.Gln739His) n.5409A>C | |
| 14 | g.91273577T>A | CA390610806 | CCDC88C | c.5135A>T (p.Gln1712Leu) c.707A>T (p.Gln236Leu) n.947A>T c.1363A>T c.5027A>T (p.Gln1676Leu) n.5410A>T c.2216A>T (p.Gln739Leu) n.5408A>T | gnomAD v4 |
| 14 | g.91273577T>C | CA390610804 | CCDC88C | c.5135A>G (p.Gln1712Arg) c.707A>G (p.Gln236Arg) n.947A>G c.1363A>G c.5027A>G (p.Gln1676Arg) n.5410A>G c.2216A>G (p.Gln739Arg) n.5408A>G | |
| 14 | g.91273577T>G | CA390610805 | CCDC88C | c.5135A>C (p.Gln1712Pro) c.707A>C (p.Gln236Pro) n.947A>C c.1363A>C c.5027A>C (p.Gln1676Pro) n.5410A>C c.2216A>C (p.Gln739Pro) n.5408A>C | |
| 14 | g.91273578G>A | CA390610807 | CCDC88C | c.5134C>T (p.Gln1712Ter) c.706C>T (p.Gln236Ter) n.946C>T c.1362C>T c.5026C>T (p.Gln1676Ter) n.5409C>T c.2215C>T (p.Gln739Ter) n.5407C>T | ClinVar dbSNP |
| 14 | g.91273578G>C | CA390610809 | CCDC88C | c.5134C>G (p.Gln1712Glu) c.706C>G (p.Gln236Glu) n.946C>G c.1362C>G c.5026C>G (p.Gln1676Glu) n.5409C>G c.2215C>G (p.Gln739Glu) n.5407C>G | |
| 14 | g.91273578G= | CA2154902721 | CCDC88C | c.5134C= (p.Gln1712=) c.706C= (p.Gln236=) n.946C= c.1362C= c.5026C= (p.Gln1676=) n.5409C= c.2215C= (p.Gln739=) n.5407C= | |
| 14 | g.91273578G>T | CA390610808 | CCDC88C | c.5134C>A (p.Gln1712Lys) c.706C>A (p.Gln236Lys) n.946C>A c.1362C>A c.5026C>A (p.Gln1676Lys) n.5409C>A c.2215C>A (p.Gln739Lys) n.5407C>A | |
| 14 | g.91273579G>A | CA487829358 | CCDC88C | c.5133C>T (p.Gly1711=) c.705C>T (p.Gly235=) n.945C>T c.1361C>T c.5025C>T (p.Gly1675=) n.5408C>T c.2214C>T (p.Gly738=) n.5406C>T | gnomAD v4 |
| 14 | g.91273579G>C | CA487829359 | CCDC88C | c.5133C>G (p.Gly1711=) c.705C>G (p.Gly235=) n.945C>G c.1361C>G c.5025C>G (p.Gly1675=) n.5408C>G c.2214C>G (p.Gly738=) n.5406C>G | |
| 14 | g.91273579G>T | CA487829360 | CCDC88C | c.5133C>A (p.Gly1711=) c.705C>A (p.Gly235=) n.945C>A c.1361C>A c.5025C>A (p.Gly1675=) n.5408C>A c.2214C>A (p.Gly738=) n.5406C>A | |
| 14 | g.91273580C>A | CA390610810 | CCDC88C | c.5132G>T (p.Gly1711Val) c.704G>T (p.Gly235Val) n.944G>T c.1360G>T c.5024G>T (p.Gly1675Val) n.5407G>T c.2213G>T (p.Gly738Val) n.5405G>T | |
| 14 | g.91273580C= | CA2154902726 | CCDC88C | c.5132G= (p.Gly1711=) c.704G= (p.Gly235=) n.944G= c.1360G= c.5024G= (p.Gly1675=) n.5407G= c.2213G= (p.Gly738=) n.5405G= | |
| 14 | g.91273580C>G | CA390610811 | CCDC88C | c.5132G>C (p.Gly1711Ala) c.704G>C (p.Gly235Ala) n.944G>C c.1360G>C c.5024G>C (p.Gly1675Ala) n.5407G>C c.2213G>C (p.Gly738Ala) n.5405G>C | |
| 14 | g.91273580C>T | CA390610812 | CCDC88C | c.5132G>A (p.Gly1711Asp) c.704G>A (p.Gly235Asp) n.944G>A c.1360G>A c.5024G>A (p.Gly1675Asp) n.5407G>A c.2213G>A (p.Gly738Asp) n.5405G>A | dbSNP gnomAD v4 |
| 14 | g.91273581C>A | CA390610813 | CCDC88C | c.5131G>T (p.Gly1711Cys) c.703G>T (p.Gly235Cys) n.943G>T c.1359G>T c.5023G>T (p.Gly1675Cys) n.5406G>T c.2212G>T (p.Gly738Cys) n.5404G>T | gnomAD v4 |
| 14 | g.91273581C>G | CA390610814 | CCDC88C | c.5131G>C (p.Gly1711Arg) c.703G>C (p.Gly235Arg) n.943G>C c.1359G>C c.5023G>C (p.Gly1675Arg) n.5406G>C c.2212G>C (p.Gly738Arg) n.5404G>C | |
| 14 | g.91273581C>T | CA390610815 | CCDC88C | c.5131G>A (p.Gly1711Ser) c.703G>A (p.Gly235Ser) n.943G>A c.1359G>A c.5023G>A (p.Gly1675Ser) n.5406G>A c.2212G>A (p.Gly738Ser) n.5404G>A | gnomAD v4 |
| 14 | g.91273582T>A | CA487829361 | CCDC88C | c.5130A>T (p.Gly1710=) c.702A>T (p.Gly234=) n.942A>T c.1358A>T c.5022A>T (p.Gly1674=) n.5405A>T c.2211A>T (p.Gly737=) n.5403A>T | |
| 14 | g.91273582T>C | CA487829362 | CCDC88C | c.5130A>G (p.Gly1710=) c.702A>G (p.Gly234=) n.942A>G c.1358A>G c.5022A>G (p.Gly1674=) n.5405A>G c.2211A>G (p.Gly737=) n.5403A>G | gnomAD v4 |
| 14 | g.91273582T>G | CA487829363 | CCDC88C | c.5130A>C (p.Gly1710=) c.702A>C (p.Gly234=) n.942A>C c.1358A>C c.5022A>C (p.Gly1674=) n.5405A>C c.2211A>C (p.Gly737=) n.5403A>C | |
| 14 | g.91273583C>A | CA390610816 | CCDC88C | c.5129G>T (p.Gly1710Val) c.701G>T (p.Gly234Val) n.941G>T c.1357G>T c.5021G>T (p.Gly1674Val) n.5404G>T c.2210G>T (p.Gly737Val) n.5402G>T | |
| 14 | g.91273583C>G | CA390610817 | CCDC88C | c.5129G>C (p.Gly1710Ala) c.701G>C (p.Gly234Ala) n.941G>C c.1357G>C c.5021G>C (p.Gly1674Ala) n.5404G>C c.2210G>C (p.Gly737Ala) n.5402G>C | |
| 14 | g.91273583C>T | CA390610818 | CCDC88C | c.5129G>A (p.Gly1710Glu) c.701G>A (p.Gly234Glu) n.941G>A c.1357G>A c.5021G>A (p.Gly1674Glu) n.5404G>A c.2210G>A (p.Gly737Glu) n.5402G>A | COSMIC COSMIC COSMIC |
| 14 | g.91273584C>A | CA390610819 | CCDC88C | c.5128G>T (p.Gly1710Ter) c.700G>T (p.Gly234Ter) n.940G>T c.1356G>T c.5020G>T (p.Gly1674Ter) n.5403G>T c.2209G>T (p.Gly737Ter) n.5401G>T | |
| 14 | g.91273584C= | CA2154902729 | CCDC88C | c.5128G= (p.Gly1710=) c.700G= (p.Gly234=) n.940G= c.1356G= c.5020G= (p.Gly1674=) n.5403G= c.2209G= (p.Gly737=) n.5401G= | |
| 14 | g.91273584C>G | CA390610820 | CCDC88C | c.5128G>C (p.Gly1710Arg) c.700G>C (p.Gly234Arg) n.940G>C c.1356G>C c.5020G>C (p.Gly1674Arg) n.5403G>C c.2209G>C (p.Gly737Arg) n.5401G>C | |
| 14 | g.91273584C>T | CA7308725 | CCDC88C | c.5128G>A (p.Gly1710Arg) c.700G>A (p.Gly234Arg) n.940G>A c.1356G>A c.5020G>A (p.Gly1674Arg) n.5403G>A c.2209G>A (p.Gly737Arg) n.5401G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273585G>A | CA7308726 | CCDC88C | c.5127C>T (p.Ile1709=) c.699C>T (p.Ile233=) n.939C>T c.1355C>T c.5019C>T (p.Ile1673=) n.5402C>T c.2208C>T (p.Ile736=) n.5400C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91273585G>C | CA390610821 | CCDC88C | c.5127C>G (p.Ile1709Met) c.699C>G (p.Ile233Met) n.939C>G c.1355C>G c.5019C>G (p.Ile1673Met) n.5402C>G c.2208C>G (p.Ile736Met) n.5400C>G | dbSNP |
| 14 | g.91273585G= | CA2154902734 | CCDC88C | c.5127C= (p.Ile1709=) c.699C= (p.Ile233=) n.939C= c.1355C= c.5019C= (p.Ile1673=) n.5402C= c.2208C= (p.Ile736=) n.5400C= | |
| 14 | g.91273585G>T | CA487829364 | CCDC88C | c.5127C>A (p.Ile1709=) c.699C>A (p.Ile233=) n.939C>A c.1355C>A c.5019C>A (p.Ile1673=) n.5402C>A c.2208C>A (p.Ile736=) n.5400C>A |