Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
2-44066166-G-A | c.-27G>A | - | 5-UTRSNV | 1/13 | - | 1 |
2-44066174-T-A | c.-19T>A | - | 5-UTRSNV | 1/13 | - | 12 |
2-44066174-T-G | c.-19T>G | - | 5-UTRSNV | 1/13 | - | 11 |
2-44066178-A-C | c.-15A>C | - | 5-UTRSNV | 1/13 | - | 1 |
2-44066226-C-G | c.34C>G | p.Pro12Ala | Missense | 1/13 | - | 3 |
2-44066228-G-A | c.36G>A | p.Pro12Pro | Synonymous | 1/13 | - | 1 |
2-44066228-G-C | c.36G>C | p.Pro12Pro | Synonymous | 1/13 | - | 1 |
2-44066228-G-T | c.36G>T | p.Pro12Pro | Synonymous | 1/13 | - | 1 |
2-44066239-C-T | c.47C>T | p.Thr16Ile | Missense | 1/13 | - | 1 |
2-44066243-C-A | c.51C>A | p.Pro17Pro | Synonymous | 1/13 | - | 3 |
2-44066243-C-G | c.51C>G | p.Pro17Pro | Synonymous | 1/13 | - | 3 |
2-44066243-C-T | c.51C>T | p.Pro17Pro | Synonymous | 1/13 | - | 3 |
2-44066247-G-A | c.55G>A | p.Asp19Asn | Missense | 1/13 | - | 39 |
2-44066247-G-C | c.55G>C | p.Asp19His | Missense | 1/13 | - | 120 |
2-44066248-A-G | c.56A>G | p.Asp19Gly | Missense | 1/13 | - | 1 |
2-44067169-G-A | c.63+914G>A | - | IntronicSNV | - | 1/12 | 1 |
2-44067819-T-G | c.63+1564T>G | - | IntronicSNV | - | 1/12 | 4 |
2-44068291-C-A | c.63+2036C>A | - | IntronicSNV | - | 1/12 | 4 |
2-44068291-C-T | c.63+2036C>T | - | IntronicSNV | - | 1/12 | 4 |
2-44068341-C-G | c.63+2086C>G | - | IntronicSNV | - | 1/12 | 1 |
2-44068341-C-T | c.63+2086C>T | - | IntronicSNV | - | 1/12 | 1 |
2-44069772-G-A | c.64-1874G>A | - | IntronicSNV | - | 1/12 | 3 |
2-44069781-A-T | c.64-1865A>T | - | IntronicSNV | - | 1/12 | 1 |
2-44070780-G-A | c.64-866G>A | - | IntronicSNV | - | 1/12 | 1 |
2-44071625-C-A | c.64-21C>A | - | IntronicSNV | - | 1/12 | 1 |
2-44071639-C-T | c.64-7C>T | - | IntronicSNV | - | 1/12 | 1 |
2-44071712-C-T | c.130C>T | p.Pro44Ser | Missense | 2/13 | - | 1 |
2-44071729-C-T | c.147C>T | p.Val49Val | Synonymous | 2/13 | - | 1 |
2-44071730-AGA-TGT | c.148_150delinsTGT | p.Arg50Cys | Missense | 2/13 | - | 3 |
2-44071736-C-G | c.154C>G | p.Leu52Val | Missense | 2/13 | - | 1 |
2-44071743-A-G | c.161A>G | p.Tyr54Cys | Missense | 2/13 | - | 33 |
2-44071852-G-C | c.165+105G>C | - | IntronicSNV | - | 2/12 | 1 |
2-44072576-G-C | c.166-718G>C | - | IntronicSNV | - | 2/12 | 110 |
2-44072576-G-T | c.166-718G>T | - | IntronicSNV | - | 2/12 | 111 |
2-44073321-T-C | c.193T>C | p.Phe65Leu | Missense | 3/13 | - | 1 |
2-44073323-T-A | c.195T>A | p.Phe65Leu | Missense | 3/13 | - | 1 |
2-44073323-T-G | c.195T>G | p.Phe65Leu | Missense | 3/13 | - | 1 |
2-44073352-G-A | c.224G>A | p.Trp75* | Nonsense | 3/13 | - | 1 |
2-44073353-G-A | c.225G>A | p.Trp75* | Nonsense | 3/13 | - | 1 |
2-44073385-T-C | c.257T>C | p.Leu86Pro | Missense | 3/13 | - | 1 |
2-44073448-C-G | c.320C>G | p.Ser107* | Nonsense | 3/13 | - | 9 |
2-44073656-T-C | c.322+206T>C | - | IntronicSNV | - | 3/12 | 14 |
2-44073881-T-C | c.322+431T>C | - | IntronicSNV | - | 3/12 | 126 |
2-44074000-G-A | c.322+550G>A | - | IntronicSNV | - | 3/12 | 20 |
2-44074431-C-A | c.322+981C>A | - | IntronicSNV | - | 3/12 | 42 |
2-44074431-C-T | c.322+981C>T | - | IntronicSNV | - | 3/12 | 43 |
2-44075483-T-C | c.322+2033T>C | - | IntronicSNV | - | 3/12 | 7 |
2-44078761-C-T | c.361C>T | p.Arg121* | Nonsense | 4/13 | - | 3 |
2-44078792-A-G | c.392A>G | p.Gln131Arg | Missense | 4/13 | - | 1 |
2-44078819-C-T | c.419C>T | p.Ser140Leu | Missense | 4/13 | - | 1 |
2-44078853-G-A | c.453G>A | p.Val151Val | Synonymous | 4/13 | - | 3 |
2-44078853-G-T | c.453G>T | p.Val151Val | Synonymous | 4/13 | - | 3 |
2-44078890-C-T | c.490C>T | p.Arg164* | Nonsense | 4/13 | - | 3 |
2-44078899-CTTG-C | c.499_501del | p.Leu167del | InFrameDeletion | 4/13 | - | 2 |
2-44078904-C-T | c.504C>T | p.Ala168Ala | Synonymous | 4/13 | - | 1 |
2-44078914-C-T | c.514C>T | p.Gln172* | Nonsense | 4/13 | - | 2 |
2-44078950-C-T | c.550C>T | p.Arg184Cys | Missense | 4/13 | - | 1 |
2-44078951-G-A | c.551G>A | p.Arg184His | Missense | 4/13 | - | 4 |
2-44079004-T-C | c.561+43T>C | - | IntronicSNV | - | 4/12 | 3 |
2-44079310-C-A | c.562-183C>A | - | IntronicSNV | - | 4/12 | 4 |
2-44079401-G-A | c.562-92G>A | - | IntronicSNV | - | 4/12 | 2 |
2-44079515-T-A | c.584T>A | p.Leu195Gln | Missense | 5/13 | - | 4 |
2-44079524-G-A | c.593G>A | p.Arg198Lys | Missense | 5/13 | - | 1 |
2-44079578-G-A | c.647G>A | p.Gly216Asp | Missense | 5/13 | - | 3 |
2-44079606-G-A | c.675G>A | p.Val225Val | Synonymous | 5/13 | - | 2 |
2-44079622-C-A | c.691C>A | p.Pro231Thr | Missense | 5/13 | - | 9 |
2-44079671-C-T | c.694+46C>T | - | IntronicSNV | - | 5/12 | 1 |
2-44079746-A-C | c.703A>C | p.Ile235Leu | Missense | 6/13 | - | 1 |
2-44079755-G-A | c.712G>A | p.Glu238Lys | Missense | 6/13 | - | 3 |
2-44079755-GA-CT | c.712_713delinsCT | p.Glu238Leu | Missense | 6/13 | - | 3 |
2-44079772-C-CTT | c.729_730insTT | p.Asp244Leufs*10 | Frameshift | 6/13 | - | 1 |
2-44079819-C-T | c.776C>T | p.Ala259Val | Missense | 6/13 | - | 3 |
2-44079829-C-A | c.786C>A | p.Asn262Lys | Missense | 6/13 | - | 1 |
2-44079831-G-A | c.788G>A | p.Arg263Gln | Missense | 6/13 | - | 13 |
2-44079854-C-CC | c.811dup | p.Gln271Profs*5 | Frameshift | 6/13 | - | 1 |
2-44079854-C-T | c.811C>T | p.Gln271* | Nonsense | 6/13 | - | 2 |
2-44079855-A-G | c.812A>G | p.Gln271Arg | Missense | 6/13 | - | 1 |
2-44079930-C-T | c.887C>T | p.Ala296Val | Missense | 6/13 | - | 1 |
2-44079947-C-T | c.904C>T | p.Gln302* | Nonsense | 6/13 | - | 3 |
2-44079999-A-C | c.956A>C | p.Asp319Ala | Missense | 6/13 | - | 1 |
2-44080001-T-A | c.958T>A | p.Phe320Ile | Missense | 6/13 | - | 1 |
2-44080001-TT-GC | c.958_959delinsGC | p.Phe320Ala | Missense | 6/13 | - | 1 |
2-44080002-T-A | c.959T>A | p.Phe320Tyr | Missense | 6/13 | - | 1 |
2-44080185-G-A | c.964+178G>A | - | IntronicSNV | - | 6/12 | 1 |
2-44080310-C-T | c.964+303C>T | - | IntronicSNV | - | 6/12 | 1 |
2-44080324-A-G | c.964+317A>G | - | IntronicSNV | - | 6/12 | 8 |
2-44081042-T-C | c.964+1035T>C | - | IntronicSNV | - | 6/12 | 4 |
2-44081627-T-G | c.964+1620T>G | - | IntronicSNV | - | 6/12 | 2 |
2-44082362-A-G | c.964+2355A>G | - | IntronicSNV | - | 6/12 | 3 |
2-44082669-T-A | c.964+2662T>A | - | IntronicSNV | - | 6/12 | 1 |
2-44084600-A-G | c.964+4593A>G | - | IntronicSNV | - | 6/12 | 2 |
2-44084600-A-T | c.964+4593A>T | - | IntronicSNV | - | 6/12 | 2 |
2-44085035-C-A | c.964+5028C>A | - | IntronicSNV | - | 6/12 | 1 |
2-44086591-G-A | c.964+6584G>A | - | IntronicSNV | - | 6/12 | 2 |
2-44086591-G-T | c.964+6584G>T | - | IntronicSNV | - | 6/12 | 2 |
2-44087024-C-A | c.964+7017C>A | - | IntronicSNV | - | 6/12 | 3 |
2-44087024-C-G | c.964+7017C>G | - | IntronicSNV | - | 6/12 | 3 |
2-44091083-A-G | c.965-8032A>G | - | IntronicSNV | - | 6/12 | 1 |
2-44092066-C-G | c.965-7049C>G | - | IntronicSNV | - | 6/12 | 3 |
2-44092066-C-T | c.965-7049C>T | - | IntronicSNV | - | 6/12 | 3 |
2-44092959-G-C | c.965-6156G>C | - | IntronicSNV | - | 6/12 | 1 |
2-44092959-G-T | c.965-6156G>T | - | IntronicSNV | - | 6/12 | 1 |
2-44093276-G-C | c.965-5839G>C | - | IntronicSNV | - | 6/12 | 1 |
2-44096139-G-A | c.965-2976G>A | - | IntronicSNV | - | 6/12 | 1 |
2-44096139-G-T | c.965-2976G>T | - | IntronicSNV | - | 6/12 | 1 |
2-44096259-T-G | c.965-2856T>G | - | IntronicSNV | - | 6/12 | 1 |
2-44096336-T-A | c.965-2779T>A | - | IntronicSNV | - | 6/12 | 4 |
2-44096336-T-C | c.965-2779T>C | - | IntronicSNV | - | 6/12 | 4 |
2-44096402-G-A | c.965-2713G>A | - | IntronicSNV | - | 6/12 | 2 |
2-44096402-G-C | c.965-2713G>C | - | IntronicSNV | - | 6/12 | 2 |
2-44096770-T-A | c.965-2345T>A | - | IntronicSNV | - | 6/12 | 4 |
2-44096770-T-C | c.965-2345T>C | - | IntronicSNV | - | 6/12 | 4 |
2-44097367-C-T | c.965-1748C>T | - | IntronicSNV | - | 6/12 | 2 |
2-44099057-A-G | c.965-58A>G | - | IntronicSNV | - | 6/12 | 1 |
2-44099135-AG-TA | c.985_986delinsTA | p.Arg329* | Nonsense | 7/13 | - | 1 |
2-44099185-C-T | c.1035C>T | p.Leu345Leu | Synonymous | 7/13 | - | 1 |
2-44099233-G-A | c.1083G>A | p.Trp361* | Nonsense | 7/13 | - | 18 |
2-44099233-G-T | c.1083G>T | p.Trp361Cys | Missense | 7/13 | - | 1 |
2-44099382-CC-TG | c.1148_1149delinsTG | p.Thr383Met | Missense | 8/13 | - | 1 |
2-44099394-C-T | c.1160C>T | p.Pro387Leu | Missense | 8/13 | - | 1 |
2-44099433-C-A | c.1199C>A | p.Thr400Lys | Missense | 8/13 | - | 67 |
2-44099433-C-T | c.1199C>T | p.Thr400Met | Missense | 8/13 | - | 22 |
2-44099435-A-T | c.1201A>T | p.Thr401Ser | Missense | 8/13 | - | 4 |
2-44099582-G-A | c.1211+137G>A | - | IntronicSNV | - | 8/12 | 8 |
2-44100015-T-A | c.1211+570T>A | - | IntronicSNV | - | 8/12 | 1 |
2-44100077-G-A | c.1211+632G>A | - | IntronicSNV | - | 8/12 | 2 |
2-44100849-T-C | c.1212-77T>C | - | IntronicSNV | - | 8/12 | 3 |
2-44100871-G-A | c.1212-55G>A | - | IntronicSNV | - | 8/12 | 2 |
2-44100919-T-A | c.1212-7T>A | - | IntronicSNV | - | 8/12 | 1 |
2-44100928-G-A | c.1214G>A | p.Arg405His | Missense | 9/13 | - | 5 |
2-44100940-A-G | c.1226A>G | p.Asn409Ser | Missense | 9/13 | - | 1 |
2-44100940-A-T | c.1226A>T | p.Asn409Ile | Missense | 9/13 | - | 1 |
2-44100948-C-T | c.1234C>T | p.Arg412* | Nonsense | 9/13 | - | 4 |
2-44100970-T-A | c.1256T>A | p.Ile419Asn | Missense | 9/13 | - | 2 |
2-44100970-TC-AA | c.1256_1257delinsAA | p.Ile419Lys | Missense | 9/13 | - | 1 |
2-44100971-C-A | c.1257C>A | p.Ile419Ile | Synonymous | 9/13 | - | 1 |
2-44100983-G-C | c.1269G>C | p.Glu423Asp | Missense | 9/13 | - | 4 |
2-44100983-G-T | c.1269G>T | p.Glu423Asp | Missense | 9/13 | - | 4 |
2-44100999-A-G | c.1285A>G | p.Met429Val | Missense | 9/13 | - | 10 |
2-44101032-AG-GC | c.1318_1319delinsGC | p.Ser440Ala | Missense | 9/13 | - | 1 |
2-44101119-CTC-C | c.1405_1406del | p.Ser469Glnfs*12 | Frameshift | 9/13 | - | 2 |
2-44101215-CA-C | c.1411+90del | - | IntronicDeletion | - | 9/12 | 1 |
2-44101229-A-G | c.1411+104A>G | - | IntronicSNV | - | 9/12 | 2 |
2-44101394-A-G | c.1412-152A>G | - | IntronicSNV | - | 9/12 | 1 |
2-44101430-T-A | c.1412-116T>A | - | IntronicSNV | - | 9/12 | 4 |
2-44101430-T-C | c.1412-116T>C | - | IntronicSNV | - | 9/12 | 4 |
2-44101430-T-G | c.1412-116T>G | - | IntronicSNV | - | 9/12 | 4 |
2-44101538-C-T | c.1412-8C>T | - | IntronicSNV | - | 9/12 | 1 |
2-44101578-AC-A | c.1444del | p.Leu482Trpfs*40 | Frameshift | 10/13 | - | 1 |
2-44101599-AC-TG | c.1465_1466delinsTG | p.Thr489Cys | Missense | 10/13 | - | 1 |
2-44101655-C-CCA | c.1488+33_1488+34insCA | - | IntronicInsertion | - | 10/12 | 1 |
2-44101655-C-CCCA | c.1488+33_1488+34insCCA | - | IntronicInsertion | - | 10/12 | 1 |
2-44101655-C-CCG | c.1488+33_1488+34insCG | - | IntronicInsertion | - | 10/12 | 1 |
2-44101655-C-CG | c.1488+33_1488+34insG | - | IntronicInsertion | - | 10/12 | 1 |
2-44101655-C-CT | c.1488+33_1488+34insT | - | IntronicInsertion | - | 10/12 | 1 |
2-44101711-T-C | c.1488+89T>C | - | IntronicSNV | - | 10/12 | 3 |
2-44101711-T-G | c.1488+89T>G | - | IntronicSNV | - | 10/12 | 3 |
2-44101827-G-A | c.1488+205G>A | - | IntronicSNV | - | 10/12 | 6 |
2-44101884-T-C | c.1488+262T>C | - | IntronicSNV | - | 10/12 | 1 |
2-44102235-T-C | c.1489-50T>C | - | IntronicSNV | - | 10/12 | 2 |
2-44102295-A-ATCTCGGGGGA | c.1499_1500insTCTCGGGGGA | p.Glu500Aspfs*105 | Frameshift | 11/13 | - | 1 |
2-44102296-G-C | c.1500G>C | p.Glu500Asp | Missense | 11/13 | - | 1 |
2-44102296-G-T | c.1500G>T | p.Glu500Asp | Missense | 11/13 | - | 1 |
2-44102298-T-C | c.1502T>C | p.Leu501Pro | Missense | 11/13 | - | 6 |
2-44102302-G-A | c.1506G>A | p.Pro502Pro | Synonymous | 11/13 | - | 1 |
2-44102302-G-T | c.1506G>T | p.Pro502Pro | Synonymous | 11/13 | - | 1 |
2-44102330-G-A | c.1534G>A | p.Gly512Arg | Missense | 11/13 | - | 2 |
2-44102330-G-C | c.1534G>C | p.Gly512Arg | Missense | 11/13 | - | 1 |
2-44102348-C-G | c.1552C>G | p.Leu518Val | Missense | 11/13 | - | 1 |
2-44102403-G-A | c.1607G>A | p.Trp536* | Nonsense | 11/13 | - | 2 |
2-44102404-G-A | c.1608G>A | p.Trp536* | Nonsense | 11/13 | - | 2 |
2-44102409-T-G | c.1613T>G | p.Val538Gly | Missense | 11/13 | - | 1 |
2-44102425-G-T | c.1629G>T | p.Arg543Ser | Missense | 11/13 | - | 9 |
2-44102436-T-C | c.1640T>C | p.Leu547Pro | Missense | 11/13 | - | 1 |
2-44102441-G-A | c.1645G>A | p.Ala549Thr | Missense | 11/13 | - | 1 |
2-44102441-G-C | c.1645G>C | p.Ala549Pro | Missense | 11/13 | - | 1 |
2-44102463-T-C | c.1667T>C | p.Phe556Ser | Missense | 11/13 | - | 1 |
2-44102491-C-A | c.1695C>A | p.Ala565Ala | Synonymous | 11/13 | - | 5 |
2-44102491-C-T | c.1695C>T | p.Ala565Ala | Synonymous | 11/13 | - | 5 |
2-44102505-TTCT-T | c.1709_1711del | p.Phe570del | InFrameDeletion | 11/13 | - | 1 |
2-44102511-T-C | c.1715T>C | p.Leu572Pro | Missense | 11/13 | - | 5 |
2-44102516-G-A | c.1720G>A | p.Gly574Arg | Missense | 11/13 | - | 17 |
2-44102517-G-A | c.1721G>A | p.Gly574Glu | Missense | 11/13 | - | 5 |
2-44102518-G-A | c.1722G>A | p.Gly574Gly | Synonymous | 11/13 | - | 1 |
2-44102518-G-C | c.1722G>C | p.Gly574Gly | Synonymous | 11/13 | - | 1 |
2-44102518-G-T | c.1722G>T | p.Gly574Gly | Synonymous | 11/13 | - | 1 |
2-44102519-G-C | c.1723G>C | p.Gly575Arg | Missense | 11/13 | - | 4 |
2-44102634-C-G | c.1756+82C>G | - | IntronicSNV | - | 11/12 | 2 |
2-44102634-C-T | c.1756+82C>T | - | IntronicSNV | - | 11/12 | 2 |
2-44103237-T-C | c.1756+685T>C | - | IntronicSNV | - | 11/12 | 2 |
2-44103237-T-G | c.1756+685T>G | - | IntronicSNV | - | 11/12 | 2 |
2-44104067-G-A | c.1757-633G>A | - | IntronicSNV | - | 11/12 | 2 |
2-44104706-C-A | c.1763C>A | p.Ala588Glu | Missense | 12/13 | - | 1 |
2-44104728-C-T | c.1785C>T | p.Phe595Phe | Synonymous | 12/13 | - | 1 |
2-44104730-T-G | c.1787T>G | p.Leu596Arg | Missense | 12/13 | - | 7 |
2-44104733-G-T | c.1790G>T | p.Arg597Leu | Missense | 12/13 | - | 1 |
2-44104738-TG-AC | c.1795_1796delinsAC | p.Cys599Thr | Missense | 12/13 | - | 1 |
2-44104741-T-G | c.1798T>G | p.Phe600Val | Missense | 12/13 | - | 1 |
2-44104788-G-C | c.1845G>C | p.Met615Ile | Missense | 12/13 | - | 1 |
2-44104798-AAC-CAA | c.1855_1857delinsCAA | p.Asn619Gln | Missense | 12/13 | - | 1 |
2-44104820-G-T | c.1877G>T | p.Gly626Val | Missense | 12/13 | - | 1 |
2-44104825-TAAA-T | c.1882_1884del | p.Lys628del | InFrameDeletion | 12/13 | - | 2 |
2-44104925-T-A | c.1895T>A | p.Val632Asp | Missense | 13/13 | - | 19 |
2-44104925-T-C | c.1895T>C | p.Val632Ala | Missense | 13/13 | - | 24 |
2-44104925-T-G | c.1895T>G | p.Val632Gly | Missense | 13/13 | - | 19 |
2-44104952-A-T | c.1922A>T | p.Tyr641Phe | Missense | 13/13 | - | 1 |
2-44105004-C-G | c.1974C>G | p.Tyr658* | Nonsense | 13/13 | - | 4 |
2-44107701-T-C | c.*2649T>C | - | IntergenicSNV | 13/13 | - | 1 |
2-44107742-G-T | c.*2690G>T | - | IntergenicSNV | 13/13 | - | 4 |
2-44107961-C-T | c.*2909C>T | - | IntergenicSNV | 13/13 | - | 1 |
2-44109158-G-A | c.*4106G>A | - | IntergenicSNV | 13/13 | - | 2 |
2-44109158-G-C | c.*4106G>C | - | IntergenicSNV | 13/13 | - | 2 |
2-44109507-C-A | c.*4455C>A | - | IntergenicSNV | 13/13 | - | 1 |