Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
1-62921422-T-C | c.6288-295A>G | - | IntronicSNV | - | 48/48 | 3 |
1-62921586-T-C | c.6288-459A>G | - | IntronicSNV | - | 48/48 | 9 |
1-62922660-G-A | c.6287+549C>T | - | IntronicSNV | - | 48/48 | 10 |
1-62923324-C-A | c.6172G>T | p.Glu2058* | Nonsense | 48/49 | - | 1 |
1-62923338-C-G | c.6158G>C | p.Gly2053Ala | Missense | 48/49 | - | 1 |
1-62923858-G-A | c.6120-482C>T | - | IntronicSNV | - | 47/48 | 4 |
1-62923863-C-T | c.6120-487G>A | - | IntronicSNV | - | 47/48 | 6 |
1-62924448-C-T | c.6120-1072G>A | - | IntronicSNV | - | 47/48 | 5 |
1-62926057-A-T | c.6120-2681T>A | - | IntronicSNV | - | 47/48 | 4 |
1-62926371-A-G | c.6120-2995T>C | - | IntronicSNV | - | 47/48 | 2 |
1-62926371-A-T | c.6120-2995T>A | - | IntronicSNV | - | 47/48 | 2 |
1-62927797-T-G | c.6120-4421A>C | - | IntronicSNV | - | 47/48 | 4 |
1-62928549-G-A | c.6120-5173C>T | - | IntronicSNV | - | 47/48 | 4 |
1-62929892-G-A | c.6120-6516C>T | - | IntronicSNV | - | 47/48 | 1 |
1-62929892-G-T | c.6120-6516C>A | - | IntronicSNV | - | 47/48 | 1 |
1-62930224-G-A | c.6120-6848C>T | - | IntronicSNV | - | 47/48 | 1 |
1-62931632-C-A | c.6119+8021G>T | - | IntronicSNV | - | 47/48 | 46 |
1-62932815-T-C | c.6119+6838A>G | - | IntronicSNV | - | 47/48 | 1 |
1-62933758-G-A | c.6119+5895C>T | - | IntronicSNV | - | 47/48 | 1 |
1-62934308-A-G | c.6119+5345T>C | - | IntronicSNV | - | 47/48 | 4 |
1-62934846-G-A | c.6119+4807C>T | - | IntronicSNV | - | 47/48 | 1 |
1-62936912-T-A | c.6119+2741A>T | - | IntronicSNV | - | 47/48 | 3 |
1-62936912-T-C | c.6119+2741A>G | - | IntronicSNV | - | 47/48 | 3 |
1-62936912-T-G | c.6119+2741A>C | - | IntronicSNV | - | 47/48 | 3 |
1-62939466-G-C | c.6119+187C>G | - | IntronicSNV | - | 47/48 | 4 |
1-62939634-C-G | c.6119+19G>C | - | IntronicSNV | - | 47/48 | 1 |
1-62939634-C-T | c.6119+19G>A | - | IntronicSNV | - | 47/48 | 1 |
1-62940097-G-A | c.6013-338C>T | - | IntronicSNV | - | 46/48 | 6 |
1-62940938-C-T | c.5953G>A | p.Ala1985Thr | Missense | 46/49 | - | 1 |
1-62941592-A-G | c.5654T>C | p.Val1885Ala | Missense | 45/49 | - | 1 |
1-62943007-G-T | c.5541+364C>A | - | IntronicSNV | - | 43/48 | 4 |
1-62943954-G-A | c.5416-458C>T | - | IntronicSNV | - | 42/48 | 4 |
1-62943979-G-A | c.5416-483C>T | - | IntronicSNV | - | 42/48 | 4 |
1-62945418-A-C | c.5416-1922T>G | - | IntronicSNV | - | 42/48 | 4 |
1-62945418-A-G | c.5416-1922T>C | - | IntronicSNV | - | 42/48 | 4 |
1-62945418-A-T | c.5416-1922T>A | - | IntronicSNV | - | 42/48 | 4 |
1-62945631-C-T | c.5416-2135G>A | - | IntronicSNV | - | 42/48 | 4 |
1-62949034-A-G | c.5415+4035T>C | - | IntronicSNV | - | 42/48 | 4 |
1-62949034-A-T | c.5415+4035T>A | - | IntronicSNV | - | 42/48 | 4 |
1-62949960-T-C | c.5415+3109A>G | - | IntronicSNV | - | 42/48 | 4 |
1-62950858-C-T | c.5415+2211G>A | - | IntronicSNV | - | 42/48 | 15 |
1-62953183-C-T | c.5401-100G>A | - | IntronicSNV | - | 41/48 | 1 |
1-62953373-G-A | c.5401-290C>T | - | IntronicSNV | - | 41/48 | 6 |
1-62954971-T-C | c.5269-235A>G | - | IntronicSNV | - | 40/48 | 1 |
1-62955862-C-T | c.5269-1126G>A | - | IntronicSNV | - | 40/48 | 3 |
1-62957030-G-A | c.5268+1345C>T | - | IntronicSNV | - | 40/48 | 8 |
1-62957199-C-G | c.5268+1176G>C | - | IntronicSNV | - | 40/48 | 5 |
1-62957758-T-C | c.5268+617A>G | - | IntronicSNV | - | 40/48 | 5 |
1-62958311-T-C | c.5268+64A>G | - | IntronicSNV | - | 40/48 | 1 |
1-62958658-T-A | c.5125-140A>T | - | IntronicSNV | - | 39/48 | 1 |
1-62958658-T-C | c.5125-140A>G | - | IntronicSNV | - | 39/48 | 1 |
1-62960101-A-G | c.4969T>C | p.Leu1657Leu | Synonymous | 39/49 | - | 11 |
1-62960250-T-C | c.4932-112A>G | - | IntronicSNV | - | 38/48 | 7 |
1-62960575-T-C | c.4932-437A>G | - | IntronicSNV | - | 38/48 | 5 |
1-62962734-A-G | c.4672-566T>C | - | IntronicSNV | - | 36/48 | 4 |
1-62963737-G-A | c.4672-1569C>T | - | IntronicSNV | - | 36/48 | 4 |
1-62963914-G-C | c.4672-1746C>G | - | IntronicSNV | - | 36/48 | 4 |
1-62965621-T-A | c.4672-3453A>T | - | IntronicSNV | - | 36/48 | 3 |
1-62965621-T-G | c.4672-3453A>C | - | IntronicSNV | - | 36/48 | 3 |
1-62967747-A-G | c.4671+2554T>C | - | IntronicSNV | - | 36/48 | 5 |
1-62967987-C-T | c.4671+2314G>A | - | IntronicSNV | - | 36/48 | 4 |
1-62968491-C-G | c.4671+1810G>C | - | IntronicSNV | - | 36/48 | 4 |
1-62968491-C-T | c.4671+1810G>A | - | IntronicSNV | - | 36/48 | 4 |
1-62969402-G-A | c.4671+899C>T | - | IntronicSNV | - | 36/48 | 9 |
1-62969402-G-C | c.4671+899C>G | - | IntronicSNV | - | 36/48 | 9 |
1-62969431-G-A | c.4671+870C>T | - | IntronicSNV | - | 36/48 | 4 |
1-62970184-T-A | c.4671+117A>T | - | IntronicSNV | - | 36/48 | 4 |
1-62970184-T-C | c.4671+117A>G | - | IntronicSNV | - | 36/48 | 4 |
1-62970996-T-C | c.4518+357A>G | - | IntronicSNV | - | 35/48 | 5 |
1-62973795-A-G | c.4287-66T>C | - | IntronicSNV | - | 33/48 | 5 |
1-62973795-A-T | c.4287-66T>A | - | IntronicSNV | - | 33/48 | 5 |
1-62974150-A-T | c.4287-421T>A | - | IntronicSNV | - | 33/48 | 5 |
1-62976348-T-C | c.4190-4A>G | - | IntronicSNV | - | 32/48 | 1 |
1-62976751-G-A | c.4190-407C>T | - | IntronicSNV | - | 32/48 | 5 |
1-62977307-C-A | c.4190-963G>T | - | IntronicSNV | - | 32/48 | 4 |
1-62977307-C-T | c.4190-963G>A | - | IntronicSNV | - | 32/48 | 4 |
1-62977419-G-A | c.4190-1075C>T | - | IntronicSNV | - | 32/48 | 4 |
1-62977419-G-T | c.4190-1075C>A | - | IntronicSNV | - | 32/48 | 4 |
1-62977558-A-C | c.4190-1214T>G | - | IntronicSNV | - | 32/48 | 4 |
1-62977558-A-T | c.4190-1214T>A | - | IntronicSNV | - | 32/48 | 4 |
1-62979141-C-T | c.4163G>A | p.Gly1388Asp | Missense | 32/49 | - | 1 |
1-62979277-C-A | c.4027G>T | p.Gly1343Trp | Missense | 32/49 | - | 1 |
1-62980161-A-G | c.3844-592T>C | - | IntronicSNV | - | 30/48 | 1 |
1-62980410-T-C | c.3844-841A>G | - | IntronicSNV | - | 30/48 | 5 |
1-62980512-T-C | c.3844-943A>G | - | IntronicSNV | - | 30/48 | 1 |
1-62980607-G-A | c.3844-1038C>T | - | IntronicSNV | - | 30/48 | 9 |
1-62981440-G-A | c.3844-1871C>T | - | IntronicSNV | - | 30/48 | 3 |
1-62982891-C-A | c.3844-3322G>T | - | IntronicSNV | - | 30/48 | 7 |
1-62982891-C-T | c.3844-3322G>A | - | IntronicSNV | - | 30/48 | 7 |
1-62982994-G-A | c.3844-3425C>T | - | IntronicSNV | - | 30/48 | 5 |
1-62983693-A-C | c.3844-4124T>G | - | IntronicSNV | - | 30/48 | 5 |
1-62983693-A-G | c.3844-4124T>C | - | IntronicSNV | - | 30/48 | 5 |
1-62983751-C-A | c.3844-4182G>T | - | IntronicSNV | - | 30/48 | 5 |
1-62983751-C-T | c.3844-4182G>A | - | IntronicSNV | - | 30/48 | 5 |
1-62984897-C-T | c.3844-5328G>A | - | IntronicSNV | - | 30/48 | 4 |
1-62986955-C-A | c.3843+6867G>T | - | IntronicSNV | - | 30/48 | 3 |
1-62986955-C-T | c.3843+6867G>A | - | IntronicSNV | - | 30/48 | 3 |
1-62987289-T-C | c.3843+6533A>G | - | IntronicSNV | - | 30/48 | 3 |
1-62988972-T-A | c.3843+4850A>T | - | IntronicSNV | - | 30/48 | 5 |
1-62988972-T-C | c.3843+4850A>G | - | IntronicSNV | - | 30/48 | 5 |
1-62989807-C-T | c.3843+4015G>A | - | IntronicSNV | - | 30/48 | 6 |
1-62991369-T-C | c.3843+2453A>G | - | IntronicSNV | - | 30/48 | 5 |
1-62991905-T-C | c.3843+1917A>G | - | IntronicSNV | - | 30/48 | 6 |
1-62992749-T-C | c.3843+1073A>G | - | IntronicSNV | - | 30/48 | 4 |
1-62993620-T-C | c.3843+202A>G | - | IntronicSNV | - | 30/48 | 4 |
1-62996046-C-A | c.3519-929G>T | - | IntronicSNV | - | 28/48 | 5 |
1-62996046-C-G | c.3519-929G>C | - | IntronicSNV | - | 28/48 | 5 |
1-62996046-C-T | c.3519-929G>A | - | IntronicSNV | - | 28/48 | 5 |
1-62996373-C-T | c.3519-1256G>A | - | IntronicSNV | - | 28/48 | 3 |
1-62996838-C-G | c.3519-1721G>C | - | IntronicSNV | - | 28/48 | 18 |
1-62996838-C-T | c.3519-1721G>A | - | IntronicSNV | - | 28/48 | 18 |
1-62997601-C-A | c.3519-2484G>T | - | IntronicSNV | - | 28/48 | 1 |
1-62999595-C-G | c.3518+1569G>C | - | IntronicSNV | - | 28/48 | 4 |
1-62999675-C-G | c.3518+1489G>C | - | IntronicSNV | - | 28/48 | 4 |
1-62999675-C-T | c.3518+1489G>A | - | IntronicSNV | - | 28/48 | 4 |
1-63001120-A-C | c.3518+44T>G | - | IntronicSNV | - | 28/48 | 7 |
1-63001120-A-T | c.3518+44T>A | - | IntronicSNV | - | 28/48 | 7 |
1-63002551-A-G | c.3378+1011T>C | - | IntronicSNV | - | 27/48 | 4 |
1-63003538-T-C | c.3378+24A>G | - | IntronicSNV | - | 27/48 | 1 |
1-63005153-T-C | c.3207+63A>G | - | IntronicSNV | - | 26/48 | 1 |
1-63005218-G-A | c.3205C>T | p.Gln1069* | Nonsense | 26/49 | - | 1 |
1-63005950-T-C | c.2953-387A>G | - | IntronicSNV | - | 24/48 | 4 |
1-63006087-C-A | c.2953-524G>T | - | IntronicSNV | - | 24/48 | 4 |
1-63006595-A-T | c.2953-1032T>A | - | IntronicSNV | - | 24/48 | 4 |
1-63006842-A-C | c.2953-1279T>G | - | IntronicSNV | - | 24/48 | 4 |
1-63006842-A-T | c.2953-1279T>A | - | IntronicSNV | - | 24/48 | 4 |
1-63007182-C-T | c.2952+1097G>A | - | IntronicSNV | - | 24/48 | 4 |
1-63007228-G-A | c.2952+1051C>T | - | IntronicSNV | - | 24/48 | 5 |
1-63007721-A-T | c.2952+558T>A | - | IntronicSNV | - | 24/48 | 4 |
1-63009900-A-G | c.2767-484T>C | - | IntronicSNV | - | 22/48 | 4 |
1-63009900-A-T | c.2767-484T>A | - | IntronicSNV | - | 22/48 | 4 |
1-63009956-C-T | c.2767-540G>A | - | IntronicSNV | - | 22/48 | 4 |
1-63010110-G-C | c.2767-694C>G | - | IntronicSNV | - | 22/48 | 4 |
1-63010871-T-C | c.2767-1455A>G | - | IntronicSNV | - | 22/48 | 4 |
1-63012056-A-G | c.2767-2640T>C | - | IntronicSNV | - | 22/48 | 4 |
1-63012071-A-C | c.2767-2655T>G | - | IntronicSNV | - | 22/48 | 4 |
1-63012107-C-G | c.2767-2691G>C | - | IntronicSNV | - | 22/48 | 4 |
1-63012107-C-T | c.2767-2691G>A | - | IntronicSNV | - | 22/48 | 4 |
1-63013134-A-G | c.2767-3718T>C | - | IntronicSNV | - | 22/48 | 4 |
1-63013396-C-T | c.2767-3980G>A | - | IntronicSNV | - | 22/48 | 4 |
1-63013786-A-G | c.2767-4370T>C | - | IntronicSNV | - | 22/48 | 4 |
1-63015199-A-T | c.2766+3204T>A | - | IntronicSNV | - | 22/48 | 4 |
1-63018170-T-C | c.2766+233A>G | - | IntronicSNV | - | 22/48 | 5 |
1-63018170-T-G | c.2766+233A>C | - | IntronicSNV | - | 22/48 | 5 |
1-63018564-C-T | c.2605G>A | p.Gly869Ser | Missense | 22/49 | - | 1 |
1-63019919-G-A | c.2597-1347C>T | - | IntronicSNV | - | 21/48 | 1 |
1-63020816-C-A | c.2596+680G>T | - | IntronicSNV | - | 21/48 | 7 |
1-63021582-GT-G | c.2510del | p.Asp837Alafs*48 | Frameshift | 21/49 | - | 1 |
1-63021613-G-A | c.2479C>T | p.Arg827* | Nonsense | 21/49 | - | 1 |
1-63021621-A-C | c.2471T>G | p.Ile824Ser | Missense | 21/49 | - | 1 |
1-63021621-A-G | c.2471T>C | p.Ile824Thr | Missense | 21/49 | - | 1 |
1-63022004-G-A | c.2432-344C>T | - | IntronicSNV | - | 20/48 | 1 |
1-63025942-G-T | c.2200-1051C>A | - | IntronicSNV | - | 19/48 | 99 |
1-63026011-C-T | c.2200-1120G>A | - | IntronicSNV | - | 19/48 | 4 |
1-63026429-T-G | c.2199+859A>C | - | IntronicSNV | - | 19/48 | 4 |
1-63027024-C-A | c.2199+264G>T | - | IntronicSNV | - | 19/48 | 5 |
1-63027024-C-T | c.2199+264G>A | - | IntronicSNV | - | 19/48 | 5 |
1-63028198-T-C | c.2113-824A>G | - | IntronicSNV | - | 18/48 | 1 |
1-63029433-A-G | c.2113-2059T>C | - | IntronicSNV | - | 18/48 | 1 |
1-63031616-A-C | c.2113-4242T>G | - | IntronicSNV | - | 18/48 | 1 |
1-63033941-T-A | c.2113-6567A>T | - | IntronicSNV | - | 18/48 | 5 |
1-63033941-T-C | c.2113-6567A>G | - | IntronicSNV | - | 18/48 | 5 |
1-63034222-T-C | c.2113-6848A>G | - | IntronicSNV | - | 18/48 | 3 |
1-63034363-A-C | c.2113-6989T>G | - | IntronicSNV | - | 18/48 | 6 |
1-63036807-G-A | c.2112+6126C>T | - | IntronicSNV | - | 18/48 | 2 |
1-63037837-C-A | c.2112+5096G>T | - | IntronicSNV | - | 18/48 | 4 |
1-63037837-C-T | c.2112+5096G>A | - | IntronicSNV | - | 18/48 | 4 |
1-63039533-C-T | c.2112+3400G>A | - | IntronicSNV | - | 18/48 | 4 |
1-63040728-G-A | c.2112+2205C>T | - | IntronicSNV | - | 18/48 | 4 |
1-63040728-G-T | c.2112+2205C>A | - | IntronicSNV | - | 18/48 | 4 |
1-63041086-T-C | c.2112+1847A>G | - | IntronicSNV | - | 18/48 | 4 |
1-63041800-T-C | c.2112+1133A>G | - | IntronicSNV | - | 18/48 | 6 |
1-63041800-T-G | c.2112+1133A>C | - | IntronicSNV | - | 18/48 | 6 |
1-63042126-A-G | c.2112+807T>C | - | IntronicSNV | - | 18/48 | 4 |
1-63042738-A-G | c.2112+195T>C | - | IntronicSNV | - | 18/48 | 4 |
1-63044464-C-T | c.2010+35G>A | - | IntronicSNV | - | 17/48 | 3 |
1-63045506-A-C | c.1872-869T>G | - | IntronicSNV | - | 16/48 | 6 |
1-63046039-T-C | c.1872-1402A>G | - | IntronicSNV | - | 16/48 | 4 |
1-63046578-C-A | c.1872-1941G>T | - | IntronicSNV | - | 16/48 | 4 |
1-63048275-A-C | c.1871+580T>G | - | IntronicSNV | - | 16/48 | 3 |
1-63048276-A-C | c.1871+579T>G | - | IntronicSNV | - | 16/48 | 4 |
1-63048277-A-C | c.1871+578T>G | - | IntronicSNV | - | 16/48 | 4 |
1-63049551-A-C | c.1801-626T>G | - | IntronicSNV | - | 15/48 | 12 |
1-63049551-A-G | c.1801-626T>C | - | IntronicSNV | - | 15/48 | 12 |
1-63049593-C-G | c.1801-668G>C | - | IntronicSNV | - | 15/48 | 63 |
1-63049593-C-T | c.1801-668G>A | - | IntronicSNV | - | 15/48 | 63 |
1-63049819-G-A | c.1801-894C>T | - | IntronicSNV | - | 15/48 | 12 |
1-63050598-T-G | c.1800+1580A>C | - | IntronicSNV | - | 15/48 | 19 |
1-63052178-C-G | c.1800G>C | p.Pro600Pro | Synonymous | 15/49 | - | 1 |
1-63052178-C-T | c.1800G>A | p.Pro600Pro | Synonymous | 15/49 | - | 1 |
1-63055280-G-A | c.1683-2985C>T | - | IntronicSNV | - | 14/48 | 2 |
1-63055470-G-A | c.1683-3175C>T | - | IntronicSNV | - | 14/48 | 5 |
1-63056112-G-A | c.1683-3817C>T | - | IntronicSNV | - | 14/48 | 13 |
1-63056670-G-A | c.1683-4375C>T | - | IntronicSNV | - | 14/48 | 4 |
1-63057136-T-A | c.1683-4841A>T | - | IntronicSNV | - | 14/48 | 6 |
1-63057136-T-C | c.1683-4841A>G | - | IntronicSNV | - | 14/48 | 6 |
1-63060311-A-C | c.1683-8016T>G | - | IntronicSNV | - | 14/48 | 8 |
1-63061906-C-T | c.1683-9611G>A | - | IntronicSNV | - | 14/48 | 13 |
1-63063177-C-T | c.1683-10882G>A | - | IntronicSNV | - | 14/48 | 1 |
1-63072265-A-C | c.1682+12112T>G | - | IntronicSNV | - | 14/48 | 9 |
1-63072265-A-T | c.1682+12112T>A | - | IntronicSNV | - | 14/48 | 9 |
1-63073113-C-T | c.1682+11264G>A | - | IntronicSNV | - | 14/48 | 1 |
1-63073975-C-T | c.1682+10402G>A | - | IntronicSNV | - | 14/48 | 6 |
1-63074442-C-A | c.1682+9935G>T | - | IntronicSNV | - | 14/48 | 6 |
1-63075826-G-A | c.1682+8551C>T | - | IntronicSNV | - | 14/48 | 8 |
1-63078222-A-T | c.1682+6155T>A | - | IntronicSNV | - | 14/48 | 7 |
1-63081919-A-G | c.1682+2458T>C | - | IntronicSNV | - | 14/48 | 4 |
1-63081919-A-T | c.1682+2458T>A | - | IntronicSNV | - | 14/48 | 4 |
1-63083289-C-A | c.1682+1088G>T | - | IntronicSNV | - | 14/48 | 2 |
1-63084030-G-A | c.1682+347C>T | - | IntronicSNV | - | 14/48 | 4 |
1-63085266-C-T | c.1519+305G>A | - | IntronicSNV | - | 13/48 | 4 |
1-63085997-T-A | c.1426-333A>T | - | IntronicSNV | - | 12/48 | 3 |
1-63086001-T-A | c.1426-337A>T | - | IntronicSNV | - | 12/48 | 1 |
1-63090858-C-T | c.1425+72G>A | - | IntronicSNV | - | 12/48 | 11 |
1-63090966-TCG-TGG | c.1388delinsC | p.Arg463Pro | Missense | 12/49 | - | 1 |
1-63091471-G-C | c.1283-399C>G | - | IntronicSNV | - | 11/48 | 1 |
1-63092120-G-C | c.1283-1048C>G | - | IntronicSNV | - | 11/48 | 1 |
1-63092120-G-T | c.1283-1048C>A | - | IntronicSNV | - | 11/48 | 1 |
1-63093617-C-T | c.1283-2545G>A | - | IntronicSNV | - | 11/48 | 5 |
1-63094207-A-G | c.1282+2704T>C | - | IntronicSNV | - | 11/48 | 8 |
1-63094692-A-G | c.1282+2219T>C | - | IntronicSNV | - | 11/48 | 5 |
1-63095711-C-T | c.1282+1200G>A | - | IntronicSNV | - | 11/48 | 4 |
1-63096781-C-A | c.1282+130G>T | - | IntronicSNV | - | 11/48 | 2 |
1-63096781-C-G | c.1282+130G>C | - | IntronicSNV | - | 11/48 | 2 |
1-63098235-G-A | c.1116+934C>T | - | IntronicSNV | - | 10/48 | 6 |
1-63098641-A-C | c.1116+528T>G | - | IntronicSNV | - | 10/48 | 1 |
1-63099023-T-A | c.1116+146A>T | - | IntronicSNV | - | 10/48 | 6 |
1-63099023-T-C | c.1116+146A>G | - | IntronicSNV | - | 10/48 | 6 |
1-63099577-G-A | c.1036-328C>T | - | IntronicSNV | - | 9/48 | 4 |
1-63100496-G-C | c.983C>G | p.Ser328* | Nonsense | 9/49 | - | 1 |
1-63101123-G-A | c.886-530C>T | - | IntronicSNV | - | 8/48 | 1 |
1-63101123-G-C | c.886-530C>G | - | IntronicSNV | - | 8/48 | 1 |
1-63102246-C-T | c.847G>A | p.Ala283Thr | Missense | 8/49 | - | 1 |
1-63103217-A-G | c.819-943T>C | - | IntronicSNV | - | 7/48 | 8 |
1-63105253-A-C | c.819-2979T>G | - | IntronicSNV | - | 7/48 | 1 |
1-63105253-A-G | c.819-2979T>C | - | IntronicSNV | - | 7/48 | 1 |
1-63105538-T-A | c.819-3264A>T | - | IntronicSNV | - | 7/48 | 4 |
1-63105538-T-C | c.819-3264A>G | - | IntronicSNV | - | 7/48 | 4 |
1-63106767-C-A | c.819-4493G>T | - | IntronicSNV | - | 7/48 | 6 |
1-63107526-C-T | c.819-5252G>A | - | IntronicSNV | - | 7/48 | 11 |
1-63108374-A-G | c.818+4988T>C | - | IntronicSNV | - | 7/48 | 5 |
1-63111069-G-A | c.818+2293C>T | - | IntronicSNV | - | 7/48 | 3 |
1-63111069-G-C | c.818+2293C>G | - | IntronicSNV | - | 7/48 | 3 |
1-63111069-G-T | c.818+2293C>A | - | IntronicSNV | - | 7/48 | 3 |
1-63112320-C-A | c.818+1042G>T | - | IntronicSNV | - | 7/48 | 5 |
1-63112320-C-G | c.818+1042G>C | - | IntronicSNV | - | 7/48 | 5 |
1-63112389-A-G | c.818+973T>C | - | IntronicSNV | - | 7/48 | 5 |
1-63113511-C-A | c.733-64G>T | - | IntronicSNV | - | 6/48 | 5 |
1-63113719-T-C | c.732+58A>G | - | IntronicSNV | - | 6/48 | 7 |
1-63113968-T-A | c.541A>T | p.Met181Leu | Missense | 6/49 | - | 1 |
1-63113968-T-C | c.541A>G | p.Met181Val | Missense | 6/49 | - | 1 |
1-63118196-A-C | c.389+1200T>G | - | IntronicSNV | - | 4/48 | 76 |
1-63118196-A-T | c.389+1200T>A | - | IntronicSNV | - | 4/48 | 76 |
1-63119256-T-C | c.389+140A>G | - | IntronicSNV | - | 4/48 | 1 |
1-63119430-T-A | c.355A>T | p.Ser119Cys | Missense | 4/49 | - | 1 |
1-63119433-T-C | c.352A>G | p.Arg118Gly | Missense | 4/49 | - | 1 |
1-63119682-GT-GG | c.292delinsC | p.Thr98Pro | Missense | 3/49 | - | 1 |
1-63119800-C-A | c.175G>T | p.Asp59Tyr | Missense | 3/49 | - | 1 |
1-63119818-C-G | c.157G>C | p.Glu53Gln | Missense | 3/49 | - | 1 |
1-63120371-C-T | c.145-541G>A | - | IntronicSNV | - | 2/48 | 4 |
1-63121101-T-TC | c.145-1272_145-1271insG | - | IntronicInsertion | - | 2/48 | 2 |
1-63121294-G-A | c.145-1464C>T | - | IntronicSNV | - | 2/48 | 4 |
1-63122859-C-A | c.145-3029G>T | - | IntronicSNV | - | 2/48 | 5 |
1-63124465-T-G | c.144+4231A>C | - | IntronicSNV | - | 2/48 | 6 |
1-63127705-C-T | c.144+991G>A | - | IntronicSNV | - | 2/48 | 4 |
1-63128081-C-T | c.144+615G>A | - | IntronicSNV | - | 2/48 | 1 |
1-63128325-A-G | c.144+371T>C | - | IntronicSNV | - | 2/48 | 1 |
1-63129082-T-C | c.39-281A>G | - | IntronicSNV | - | 1/48 | 4 |
1-63130431-C-T | c.39-1630G>A | - | IntronicSNV | - | 1/48 | 4 |
1-63130525-G-A | c.39-1724C>T | - | IntronicSNV | - | 1/48 | 1 |
1-63130991-G-A | c.39-2190C>T | - | IntronicSNV | - | 1/48 | 4 |
1-63133468-T-A | c.39-4667A>T | - | IntronicSNV | - | 1/48 | 4 |
1-63133930-G-A | c.39-5129C>T | - | IntronicSNV | - | 1/48 | 14 |
1-63135127-G-A | c.39-6326C>T | - | IntronicSNV | - | 1/48 | 4 |
1-63136078-C-A | c.39-7277G>T | - | IntronicSNV | - | 1/48 | 1 |
1-63139730-C-G | c.39-10929G>C | - | IntronicSNV | - | 1/48 | 4 |
1-63139730-C-T | c.39-10929G>A | - | IntronicSNV | - | 1/48 | 4 |
1-63140536-A-G | c.39-11735T>C | - | IntronicSNV | - | 1/48 | 1 |
1-63145439-G-A | c.38+8459C>T | - | IntronicSNV | - | 1/48 | 9 |
1-63147040-A-C | c.38+6858T>G | - | IntronicSNV | - | 1/48 | 1 |
1-63153953-C-T | c.-18G>A | - | 5-UTRSNV | 1/49 | - | 1 |