Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
4-70798274-A-G | c.1A>G | p.M1? | Missense | 2/16 | - | 1 |
4-70798276-G-A | c.3G>A | p.M1? | Missense | 2/16 | - | 2 |
4-70798277-A-C | c.4A>C | p.R2= | Synonymous | 2/16 | - | 7 |
4-70798279-G-A | c.6G>A | p.R2= | Synonymous | 2/16 | - | 7 |
4-70798284-T-C | c.11T>C | p.L4P | Missense | 2/16 | - | 1 |
4-70798285-C-CATT | c.13_15dup | p.I5dup | InFrameInsertion | 2/16 | - | 1 |
4-70798290-TCA-T | c.19_20del | p.T7Lfs*11 | Frameshift | 2/16 | - | 1 |
4-70798299-T-C | c.26T>C | p.L9P | Missense | 2/16 | - | 1 |
4-70798302-T-A | c.29T>A | p.V10E | Missense | 2/16 | - | 1 |
4-70798304-G-A | c.31G>A | p.A11T | Missense | 2/16 | - | 2 |
4-70798304-GC-AA | c.31_32delinsAA | p.A11N | Missense | 2/16 | - | 1 |
4-70798304-GC-AT | c.31_32delinsAT | p.A11I | Missense | 2/16 | - | 1 |
4-70798304-GC-CA | c.31_32delinsCA | p.A11H | Missense | 2/16 | - | 1 |
4-70798304-GC-CT | c.31_32delinsCT | p.A11L | Missense | 2/16 | - | 1 |
4-70798304-GC-TA | c.31_32delinsTA | p.A11Y | Missense | 2/16 | - | 1 |
4-70798304-GCT-ATG | c.31_33delinsATG | p.A11M | Missense | 2/16 | - | 1 |
4-70798304-GCT-CAA | c.31_33delinsCAA | p.A11Q | Missense | 2/16 | - | 1 |
4-70798304-GC-TT | c.31_32delinsTT | p.A11F | Missense | 2/16 | - | 1 |
4-70798304-GCT-TGG | c.31_33delinsTGG | p.A11W | Missense | 2/16 | - | 1 |
4-70798304-G-T | c.31G>T | p.A11S | Missense | 2/16 | - | 1 |
4-70798305-C-T | c.32C>T | p.A11V | Missense | 2/16 | - | 2 |
4-70798305-CT-AG | c.32_33inv | p.A11E | Missense | 2/16 | - | 1 |
4-70798307-G-T | c.34G>T | p.V12F | Missense | 2/16 | - | 2 |
4-70798308-T-G | c.35T>G | p.V12G | Missense | 2/16 | - | 1 |
4-70798310-GC-CT | c.37_38delinsCT | p.A13L | Missense | 2/16 | - | 1 |
4-70798311-C-A | c.38C>A | p.A13D | Missense | 2/16 | - | 2 |
4-70798311-C-G | c.38C>G | p.A13G | Missense | 2/16 | - | 6 |
4-70798311-C-T | c.38C>T | p.A13V | Missense | 2/16 | - | 1 |
4-70798312-T-A | c.39T>A | p.A13= | Synonymous | 2/16 | - | 1 |
4-70798312-T-C | c.39T>C | p.A13= | Synonymous | 2/16 | - | 1 |
4-70798312-T-G | c.39T>G | p.A13= | Synonymous | 2/16 | - | 1 |
4-70798316-GC-AT | c.43_44delinsAT | p.A15I | Missense | 2/16 | - | 1 |
4-70798316-GC-CG | c.43_44delinsCG | p.A15R | Missense | 2/16 | - | 1 |
4-70798316-G-T | c.43G>T | p.A15S | Missense | 2/16 | - | 2 |
4-70798317-CC-AG | c.44_45delinsAG | p.A15E | Missense | 2/16 | - | 1 |
4-70798317-C-T | c.44C>T | p.A15V | Missense | 2/16 | - | 1 |
4-70798319-A-T | c.46A>T | p.R16W | Missense | 2/16 | - | 1 |
4-70798322-C-T | c.49C>T | p.P17S | Missense | 2/16 | - | 2 |
4-70798323-C-A | c.50C>A | p.P17H | Missense | 2/16 | - | 1 |
4-70798323-C-T | c.50C>T | p.P17L | Missense | 2/16 | - | 1 |
4-70798325-G-C | c.51+1G>C | - | IntronicSNV | - | 2/15 | 2 |
4-70798326-T-C | c.51+2T>C | - | IntronicSNV | - | 2/15 | 1 |
4-70798436-A-G | c.51+112A>G | - | IntronicSNV | - | 2/15 | 3 |
4-70799935-T-G | c.57T>G | p.L19= | Synonymous | 3/16 | - | 1 |
4-70799938-T-A | c.60T>A | p.P20= | Synonymous | 3/16 | - | 1 |
4-70799938-T-C | c.60T>C | p.P20= | Synonymous | 3/16 | - | 1 |
4-70799938-T-G | c.60T>G | p.P20= | Synonymous | 3/16 | - | 1 |
4-70799939-C-G | c.61C>G | p.L21V | Missense | 3/16 | - | 4 |
4-70799939-C-T | c.61C>T | p.L21F | Missense | 3/16 | - | 2 |
4-70799941-T-C | c.63T>C | p.L21= | Synonymous | 3/16 | - | 1 |
4-70799943-G-A | c.65G>A | p.R22K | Missense | 3/16 | - | 1 |
4-70799944-A-G | c.66A>G | p.R22= | Synonymous | 3/16 | - | 3 |
4-70799947-C-T | c.69C>T | p.Y23= | Synonymous | 3/16 | - | 1 |
4-70799948-C-T | c.70C>T | p.P24S | Missense | 3/16 | - | 1 |
4-70799949-C-T | c.71C>T | p.P24L | Missense | 3/16 | - | 1 |
4-70799951-GAA-TTT | c.73_75delinsTTT | p.E25F | Missense | 3/16 | - | 1 |
4-70799951-G-T | c.73G>T | p.E25* | Nonsense | 3/16 | - | 2 |
4-70799953-A-G | c.75A>G | p.E25= | Synonymous | 3/16 | - | 1 |
4-70799954-C-A | c.76C>A | p.R26S | Missense | 3/16 | - | 1 |
4-70799954-C-T | c.76C>T | p.R26C | Missense | 3/16 | - | 2 |
4-70799955-G-C | c.77G>C | p.R26P | Missense | 3/16 | - | 3 |
4-70799967-A-G | c.84+5A>G | - | IntronicSNV | - | 3/15 | 1 |
4-70800359-C-G | c.85-49C>G | - | IntronicSNV | - | 3/15 | 1 |
4-70800377-A-G | c.85-31A>G | - | IntronicSNV | - | 3/15 | 2 |
4-70800409-A-G | c.86A>G | p.N29S | Missense | 4/16 | - | 1 |
4-70800410-T-A | c.87T>A | p.N29K | Missense | 4/16 | - | 2 |
4-70800410-T-C | c.87T>C | p.N29= | Synonymous | 4/16 | - | 1 |
4-70800410-T-G | c.87T>G | p.N29K | Missense | 4/16 | - | 1 |
4-70800411-C-T | c.88C>T | p.P30S | Missense | 4/16 | - | 1 |
4-70800415-C-T | c.92C>T | p.S31L | Missense | 4/16 | - | 1 |
4-70800419-G-C | c.96G>C | p.E32D | Missense | 4/16 | - | 1 |
4-70800419-G-T | c.96G>T | p.E32D | Missense | 4/16 | - | 1 |
4-70800420-AG-GA | c.97_98delinsGA | p.S33D | Missense | 4/16 | - | 1 |
4-70800421-G-A | c.98G>A | p.S33N | Missense | 4/16 | - | 1 |
4-70800425-T-C | c.102T>C | p.S34= | Synonymous | 4/16 | - | 1 |
4-70800427-A-G | c.104A>G | p.E35G | Missense | 4/16 | - | 3 |
4-70801645-C-A | c.107C>A | p.P36H | Missense | 5/16 | - | 1 |
4-70801650-CC-AT | c.112_113delinsAT | p.P38I | Missense | 5/16 | - | 1 |
4-70801654-T-C | c.116T>C | p.L39S | Missense | 5/16 | - | 1 |
4-70801660-C-A | c.122C>A | p.S41* | Nonsense | 5/16 | - | 1 |
4-70801660-C-G | c.122C>G | p.S41* | Nonsense | 5/16 | - | 2 |
4-70801665-G-A | c.127G>A | p.E43K | Missense | 5/16 | - | 1 |
4-70801672-G-T | c.129+5G>T | - | IntronicSNV | - | 5/15 | 1 |
4-70801674-A-C | c.129+7A>C | - | IntronicSNV | - | 5/15 | 1 |
4-70801922-T-A | c.130-252T>A | - | IntronicSNV | - | 5/15 | 2 |
4-70801922-T-C | c.130-252T>C | - | IntronicSNV | - | 5/15 | 2 |
4-70801922-T-G | c.130-252T>G | - | IntronicSNV | - | 5/15 | 2 |
4-70802030-A-G | c.130-144A>G | - | IntronicSNV | - | 5/15 | 2 |
4-70802183-A-G | c.139A>G | p.N47D | Missense | 6/16 | - | 1 |
4-70802186-G-A | c.142G>A | p.G48S | Missense | 6/16 | - | 2 |
4-70802187-G-A | c.143G>A | p.G48D | Missense | 6/16 | - | 2 |
4-70802189-AT-CA | c.145_146delinsCA | p.M49Q | Missense | 6/16 | - | 1 |
4-70802191-G-A | c.147G>A | p.M49I | Missense | 6/16 | - | 1 |
4-70802191-G-C | c.147G>C | p.M49I | Missense | 6/16 | - | 1 |
4-70802191-G-T | c.147G>T | p.M49I | Missense | 6/16 | - | 1 |
4-70802194-C-T | c.150C>T | p.N50= | Synonymous | 6/16 | - | 1 |
4-70802195-A-T | c.151A>T | p.R51W | Missense | 6/16 | - | 1 |
4-70802196-G-A | c.152G>A | p.R51K | Missense | 6/16 | - | 4 |
4-70802198-G-T | c.153+1G>T | - | IntronicSNV | - | 6/15 | 1 |
4-70802199-T-C | c.153+2T>C | - | IntronicSNV | - | 6/15 | 1 |
4-70802218-T-C | c.153+21T>C | - | IntronicSNV | - | 6/15 | 6 |
4-70802288-G-T | c.158G>T | p.R53I | Missense | 7/16 | - | 3 |
4-70802293-A-T | c.163A>T | p.I55F | Missense | 7/16 | - | 1 |
4-70802300-G-C | c.170G>C | p.R57T | Missense | 7/16 | - | 1 |
4-70802306-A-G | c.176A>G | p.K59R | Missense | 7/16 | - | 1 |
4-70802302-GA-G | c.177del | p.K59Nfs*48 | Frameshift | 7/16 | - | 1 |
4-70802310-G-A | c.180G>A | p.Q60= | Synonymous | 7/16 | - | 1 |
4-70802314-G-A | c.184G>A | p.D62N | Missense | 7/16 | - | 2 |
4-70802839-G-A | c.196G>A | p.D66N | Missense | 8/16 | - | 3 |
4-70802847-G-A | c.204G>A | p.R68= | Synonymous | 8/16 | - | 4 |
4-70802851-G-A | c.208G>A | p.E70K | Missense | 8/16 | - | 1 |
4-70802852-GA-G | c.209del | p.E70Gfs*37 | Frameshift | 8/16 | - | 1 |
4-70802854-T-C | c.211T>C | p.S71P | Missense | 8/16 | - | 1 |
4-70802858-C-G | c.215C>G | p.T72S | Missense | 8/16 | - | 1 |
4-70802862-G-C | c.219G>C | p.Q73H | Missense | 8/16 | - | 1 |
4-70802862-G-T | c.219G>T | p.Q73H | Missense | 8/16 | - | 1 |
4-70802896-T-C | c.219+34T>C | - | IntronicSNV | - | 8/15 | 1 |
4-70802971-A-G | c.219+109A>G | - | IntronicSNV | - | 8/15 | 1 |
4-70803380-T-A | c.220-138T>A | - | IntronicSNV | - | 8/15 | 3 |
4-70803459-A-G | c.220-59A>G | - | IntronicSNV | - | 8/15 | 1 |
4-70803522-G-A | c.224G>A | p.C75Y | Missense | 9/16 | - | 1 |
4-70803524-G-A | c.226G>A | p.V76I | Missense | 9/16 | - | 2 |
4-70803527-G-C | c.229G>C | p.V77L | Missense | 9/16 | - | 1 |
4-70803527-G-T | c.229G>T | p.V77L | Missense | 9/16 | - | 1 |
4-70803532-A-C | c.234A>C | p.A78= | Synonymous | 9/16 | - | 1 |
4-70803532-A-G | c.234A>G | p.A78= | Synonymous | 9/16 | - | 1 |
4-70803532-A-T | c.234A>T | p.A78= | Synonymous | 9/16 | - | 1 |
4-70803541-G-C | c.243G>C | p.E81D | Missense | 9/16 | - | 1 |
4-70803541-G-T | c.243G>T | p.E81D | Missense | 9/16 | - | 1 |
4-70803874-G-C | c.243+333G>C | - | IntronicSNV | - | 9/15 | 1 |
4-70803987-G-T | c.243+446G>T | - | IntronicSNV | - | 9/15 | 1 |
4-70804150-T-C | c.243+609T>C | - | IntronicSNV | - | 9/15 | 1 |
4-70804849-C-A | c.244-45C>A | - | IntronicSNV | - | 9/15 | 5 |
4-70804897-A-G | c.247A>G | p.M83V | Missense | 10/16 | - | 3 |
4-70804898-T-C | c.248T>C | p.M83T | Missense | 10/16 | - | 1 |
4-70804900-G-A | c.250G>A | p.E84K | Missense | 10/16 | - | 4 |
4-70804903-TC-AA | c.253_254delinsAA | p.S85N | Missense | 10/16 | - | 1 |
4-70804904-C-T | c.254C>T | p.S85F | Missense | 10/16 | - | 1 |
4-70804905-C-A | c.255C>A | p.S85= | Synonymous | 10/16 | - | 1 |
4-70804905-C-G | c.255C>G | p.S85= | Synonymous | 10/16 | - | 1 |
4-70804905-C-T | c.255C>T | p.S85= | Synonymous | 10/16 | - | 1 |
4-70804907-G-A | c.257G>A | p.S86N | Missense | 10/16 | - | 3 |
4-70804911-C-T | c.261C>T | p.I87= | Synonymous | 10/16 | - | 1 |
4-70804915-T-G | c.265T>G | p.S89A | Missense | 10/16 | - | 1 |
4-70804916-C-T | c.266C>T | p.S89L | Missense | 10/16 | - | 1 |
4-70804917-A-C | c.267A>C | p.S89= | Synonymous | 10/16 | - | 1 |
4-70804917-A-G | c.267A>G | p.S89= | Synonymous | 10/16 | - | 1 |
4-70804917-A-T | c.267A>T | p.S89= | Synonymous | 10/16 | - | 1 |
4-70804919-C-T | c.269C>T | p.S90L | Missense | 10/16 | - | 1 |
4-70804920-G-A | c.270G>A | p.S90= | Synonymous | 10/16 | - | 2 |
4-70804920-G-C | c.270G>C | p.S90= | Synonymous | 10/16 | - | 3 |
4-70804920-G-T | c.270G>T | p.S90= | Synonymous | 10/16 | - | 1 |
4-70805737-A-T | c.277-2A>T | - | IntronicSNV | - | 10/15 | 1 |
4-70805739-G-A | c.277G>A | p.E93K | Missense | 11/16 | - | 1 |
4-70805743-T-C | c.281T>C | p.M94T | Missense | 11/16 | - | 1 |
4-70805745-T-C | c.283T>C | p.S95P | Missense | 11/16 | - | 6 |
4-70805746-C-T | c.284C>T | p.S95F | Missense | 11/16 | - | 1 |
4-70805754-A-T | c.292A>T | p.K98* | Nonsense | 11/16 | - | 1 |
4-70805760-G-A | c.298G>A | p.A100T | Missense | 11/16 | - | 2 |
4-70805761-C-T | c.299C>T | p.A100V | Missense | 11/16 | - | 1 |
4-70805762-G-C | c.300G>C | p.A100= | Synonymous | 11/16 | - | 1 |
4-70805828-T-TTC | c.300+67_300+68dup | - | IntronicInsertion | - | 11/15 | 2 |
4-70805831-A-T | c.300+69A>T | - | IntronicSNV | - | 11/15 | 3 |
4-70805833-A-T | c.300+71A>T | - | IntronicSNV | - | 11/15 | 2 |
4-70805835-A-T | c.300+73A>T | - | IntronicSNV | - | 11/15 | 1 |
4-70805829-TCACACA-T | c.300+101_300+106del | - | IntronicDeletion | - | 11/15 | 1 |
4-70805829-TCA-T | c.300+105_300+106del | - | IntronicDeletion | - | 11/15 | 2 |
4-70806476-T-C | c.301-261T>C | - | IntronicSNV | - | 11/15 | 1 |
4-70806612-G-A | c.301-125G>A | - | IntronicSNV | - | 11/15 | 2 |
4-70806738-A-C | c.302A>C | p.E101A | Missense | 12/16 | - | 1 |
4-70806739-A-C | c.303A>C | p.E101D | Missense | 12/16 | - | 1 |
4-70806745-T-G | c.309T>G | p.F103L | Missense | 12/16 | - | 1 |
4-70806749-AGA-CAT | c.313_315delinsCAT | p.R105H | Missense | 12/16 | - | 1 |
4-70806749-AG-GC | c.313_314delinsGC | p.R105A | Missense | 12/16 | - | 1 |
4-70806750-G-A | c.314G>A | p.R105K | Missense | 12/16 | - | 1 |
4-70806756-A-G | c.320A>G | p.N107S | Missense | 12/16 | - | 1 |
4-70806757-C-T | c.321C>T | p.N107= | Synonymous | 12/16 | - | 3 |
4-70806759-A-G | c.323A>G | p.E108G | Missense | 12/16 | - | 1 |
4-70806771-T-A | c.335T>A | p.L112H | Missense | 12/16 | - | 1 |
4-70806777-T-C | c.341T>C | p.L114P | Missense | 12/16 | - | 1 |
4-70807747-T-C | c.343-17T>C | - | IntronicSNV | - | 12/15 | 3 |
4-70807770-G-A | c.349G>A | p.A117T | Missense | 13/16 | - | 1 |
4-70807771-C-T | c.350C>T | p.A117V | Missense | 13/16 | - | 36 |
4-70807772-C-A | c.351C>A | p.A117= | Synonymous | 13/16 | - | 2 |
4-70807772-C-G | c.351C>G | p.A117= | Synonymous | 13/16 | - | 2 |
4-70807772-C-T | c.351C>T | p.A117= | Synonymous | 13/16 | - | 2 |
4-70807773-C-A | c.352C>A | p.H118N | Missense | 13/16 | - | 1 |
4-70807776-G-C | c.355G>C | p.A119P | Missense | 13/16 | - | 1 |
4-70808097-T-A | c.361-157T>A | - | IntronicSNV | - | 13/15 | 4 |
4-70808097-T-C | c.361-157T>C | - | IntronicSNV | - | 13/15 | 4 |
4-70808263-C-T | c.370C>T | p.R124C | Missense | 14/16 | - | 5 |
4-70808264-G-A | c.371G>A | p.R124H | Missense | 14/16 | - | 6 |
4-70808267-G-A | c.374G>A | p.R125K | Missense | 14/16 | - | 1 |
4-70808274-T-C | c.381T>C | p.N127= | Synonymous | 14/16 | - | 2 |
4-70808275-G-A | c.382G>A | p.E128K | Missense | 14/16 | - | 2 |
4-70808276-A-C | c.383A>C | p.E128A | Missense | 14/16 | - | 1 |
4-70808279-A-C | c.386A>C | p.N129T | Missense | 14/16 | - | 1 |
4-70808280-C-A | c.387C>A | p.N129K | Missense | 14/16 | - | 1 |
4-70808280-C-G | c.387C>G | p.N129K | Missense | 14/16 | - | 1 |
4-70808281-AG-CC | c.388_389delinsCC | p.S130P | Missense | 14/16 | - | 1 |
4-70808281-A-T | c.388A>T | p.S130C | Missense | 14/16 | - | 1 |
4-70808294-T-C | c.401T>C | p.V134A | Missense | 14/16 | - | 1 |
4-70810571-T-C | c.406T>C | p.F136L | Missense | 15/16 | - | 2 |
4-70810573-C-A | c.408C>A | p.F136L | Missense | 15/16 | - | 2 |
4-70810573-C-G | c.408C>G | p.F136L | Missense | 15/16 | - | 2 |
4-70810573-C-T | c.408C>T | p.F136= | Synonymous | 15/16 | - | 1 |
4-70810583-A-T | c.418A>T | p.N140Y | Missense | 15/16 | - | 1 |
4-70810588-A-G | c.423A>G | p.Q141= | Synonymous | 15/16 | - | 1 |
4-70810589-C-A | c.424C>A | p.L142I | Missense | 15/16 | - | 2 |
4-70810589-C-T | c.424C>T | p.L142F | Missense | 15/16 | - | 1 |
4-70810592-G-A | c.427G>A | p.A143T | Missense | 15/16 | - | 1 |
4-70810595-G-T | c.430G>T | p.A144S | Missense | 15/16 | - | 1 |
4-70810601-CC-TT | c.436_437delinsTT | p.P146F | Missense | 15/16 | - | 1 |
4-70810601-C-T | c.436C>T | p.P146S | Missense | 15/16 | - | 5 |
4-70810602-C-T | c.437C>T | p.P146L | Missense | 15/16 | - | 4 |
4-70810603-C-A | c.438C>A | p.P146= | Synonymous | 15/16 | - | 2 |
4-70810603-C-G | c.438C>G | p.P146= | Synonymous | 15/16 | - | 2 |
4-70810603-C-T | c.438C>T | p.P146= | Synonymous | 15/16 | - | 2 |
4-70810608-C-A | c.443C>A | p.A148D | Missense | 15/16 | - | 1 |
4-70810618-C-A | c.453C>A | p.Y151* | Nonsense | 15/16 | - | 1 |
4-70810618-C-G | c.453C>G | p.Y151* | Nonsense | 15/16 | - | 2 |
4-70810620-A-G | c.455A>G | p.Y152C | Missense | 15/16 | - | 2 |
4-70810622-C-T | c.457C>T | p.P153S | Missense | 15/16 | - | 3 |
4-70810623-C-T | c.458C>T | p.P153L | Missense | 15/16 | - | 2 |
4-70810625-C-T | c.460C>T | p.Q154* | Nonsense | 15/16 | - | 1 |
4-70810627-A-C | c.462A>C | p.Q154H | Missense | 15/16 | - | 2 |
4-70810627-A-T | c.462A>T | p.Q154H | Missense | 15/16 | - | 1 |
4-70810635-A-T | c.470A>T | p.Q157L | Missense | 15/16 | - | 4 |
4-70810640-G-A | c.475G>A | p.V159I | Missense | 15/16 | - | 9 |
4-70810643-C-T | c.478C>T | p.P160S | Missense | 15/16 | - | 2 |
4-70810645-T-A | c.480T>A | p.P160= | Synonymous | 15/16 | - | 4 |
4-70810645-T-C | c.480T>C | p.P160= | Synonymous | 15/16 | - | 5 |
4-70810645-T-G | c.480T>G | p.P160= | Synonymous | 15/16 | - | 4 |
4-70810647-T-C | c.482T>C | p.F161S | Missense | 15/16 | - | 1 |
4-70810649-C-T | c.484C>T | p.P162S | Missense | 15/16 | - | 1 |
4-70810647-TC-T | c.485del | p.P162Hfs*33 | Frameshift | 15/16 | - | 1 |
4-70810650-C-A | c.485C>A | p.P162Q | Missense | 15/16 | - | 1 |
4-70810650-C-T | c.485C>T | p.P162L | Missense | 15/16 | - | 4 |
4-70810654-G-A | c.489G>A | p.P163= | Synonymous | 15/16 | - | 2 |
4-70810654-G-C | c.489G>C | p.P163= | Synonymous | 15/16 | - | 1 |
4-70810654-G-T | c.489G>T | p.P163= | Synonymous | 15/16 | - | 2 |
4-70810655-T-C | c.490T>C | p.F164L | Missense | 15/16 | - | 1 |
4-70810655-TT-AA | c.490_491inv | p.F164N | Missense | 15/16 | - | 1 |
4-70810657-T-A | c.492T>A | p.F164L | Missense | 15/16 | - | 1 |
4-70810657-T-G | c.492T>G | p.F164L | Missense | 15/16 | - | 1 |
4-70810659-C-T | c.494C>T | p.S165F | Missense | 15/16 | - | 3 |
4-70810660-C-A | c.495C>A | p.S165= | Synonymous | 15/16 | - | 3 |
4-70810660-C-G | c.495C>G | p.S165= | Synonymous | 15/16 | - | 3 |
4-70810660-C-T | c.495C>T | p.S165= | Synonymous | 15/16 | - | 5 |
4-70810661-G-A | c.496G>A | p.D166N | Missense | 15/16 | - | 5 |
4-70810665-T-C | c.500T>C | p.I167T | Missense | 15/16 | - | 1 |
4-70810669-C-CA | c.506dup | p.N169Kfs*6 | Frameshift | 15/16 | - | 1 |
4-70810674-C-T | c.509C>T | p.P170L | Missense | 15/16 | - | 1 |
4-70810677-C-T | c.512C>T | p.T171I | Missense | 15/16 | - | 1 |
4-70810680-C-A | c.515C>A | p.A172D | Missense | 15/16 | - | 3 |
4-70810683-A-G | c.518A>G | p.H173R | Missense | 15/16 | - | 1 |
4-70810685-G-A | c.520G>A | p.E174K | Missense | 15/16 | - | 1 |
4-70810685-G-T | c.520G>T | p.E174* | Nonsense | 15/16 | - | 2 |
4-70810688-A-C | c.523A>C | p.N175H | Missense | 15/16 | - | 2 |
4-70810689-A-T | c.524A>T | p.N175I | Missense | 15/16 | - | 4 |
4-70810690-T-A | c.525T>A | p.N175K | Missense | 15/16 | - | 1 |
4-70810694-G-A | c.529G>A | p.E177K | Missense | 15/16 | - | 4 |
4-70810699-A-AT | c.534_535insT | p.N179* | Nonsense | 15/16 | - | 1 |
4-70810694-GA-G | c.536del | p.N179Ifs*16 | Frameshift | 15/16 | - | 5 |
4-70810701-A-T | c.536A>T | p.N179I | Missense | 15/16 | - | 1 |
4-70810705-C-A | c.540C>A | p.N180K | Missense | 15/16 | - | 2 |
4-70810705-C-G | c.540C>G | p.N180K | Missense | 15/16 | - | 3 |
4-70810705-C-T | c.540C>T | p.N180= | Synonymous | 15/16 | - | 1 |
4-70810706-G-A | c.541G>A | p.V181I | Missense | 15/16 | - | 3 |
4-70810709-A-G | c.544A>G | p.M182V | Missense | 15/16 | - | 1 |
4-70810710-T-C | c.545T>C | p.M182T | Missense | 15/16 | - | 2 |
4-70810711-G-A | c.546G>A | p.M182I | Missense | 15/16 | - | 1 |
4-70810718-T-C | c.553T>C | p.W185R | Missense | 15/16 | - | 1 |
4-70810722-G-T | c.557G>T | p.*186Lext*3 | Missense | 15/16 | - | 1 |
4-70810724-T-C | c.557+2T>C | - | IntronicSNV | - | 15/15 | 2 |
4-70811521-A-G | c.*-393A>G | - | IntronicSNV | - | 15/15 | 1 |
4-70811806-T-C | c.*-108T>C | - | IntronicSNV | - | 15/15 | 3 |
4-70811955-G-A | c.*41G>A | - | 3-UTRSNV | 16/16 | - | 1 |
4-70812169-A-G | c.*255A>G | - | 3-UTRSNV | 16/16 | - | 3 |
4-70812169-A-T | c.*255A>T | - | 3-UTRSNV | 16/16 | - | 3 |