| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 1-180943529-C-T | c.*2177G>A | - | 3-UTRSNV | 8/8 | - | 6 |
| 1-180943605-T-C | c.*2101A>G | - | 3-UTRSNV | 8/8 | - | 1 |
| 1-180943982-G-A | c.*1724C>T | - | 3-UTRSNV | 8/8 | - | 1 |
| 1-180944532-T-TAA | c.*1172_*1173dup | - | 3-UTRInsertion | 8/8 | - | 2 |
| 1-180945687-G-A | c.*19C>T | - | 3-UTRSNV | 8/8 | - | 1 |
| 1-180945712-C-A | c.762G>T | p.V254= | Synonymous | 8/8 | - | 1 |
| 1-180945712-C-G | c.762G>C | p.V254= | Synonymous | 8/8 | - | 1 |
| 1-180945712-C-T | c.762G>A | p.V254= | Synonymous | 8/8 | - | 1 |
| 1-180945714-C-A | c.760G>T | p.V254L | Missense | 8/8 | - | 1 |
| 1-180945729-G-A | c.745C>T | p.L249F | Missense | 8/8 | - | 1 |
| 1-180945733-A-C | c.741T>G | p.V247= | Synonymous | 8/8 | - | 1 |
| 1-180945733-A-G | c.741T>C | p.V247= | Synonymous | 8/8 | - | 1 |
| 1-180945733-A-T | c.741T>A | p.V247= | Synonymous | 8/8 | - | 1 |
| 1-180945739-C-A | c.735G>T | p.L245= | Synonymous | 8/8 | - | 1 |
| 1-180945739-C-G | c.735G>C | p.L245= | Synonymous | 8/8 | - | 1 |
| 1-180945739-C-T | c.735G>A | p.L245= | Synonymous | 8/8 | - | 1 |
| 1-180945741-G-A | c.733C>T | p.L245= | Synonymous | 8/8 | - | 1 |
| 1-180945742-GAC-CAT | c.730_732delinsATG | p.V244M | Missense | 8/8 | - | 1 |
| 1-180945744-C-T | c.730G>A | p.V244I | Missense | 8/8 | - | 1 |
| 1-180945745-T-C | c.729A>G | p.A243= | Synonymous | 8/8 | - | 1 |
| 1-180945768-A-C | c.706T>G | p.C236G | Missense | 8/8 | - | 2 |
| 1-180945770-C-A | c.704G>T | p.W235L | Missense | 8/8 | - | 1 |
| 1-180945770-C-G | c.704G>C | p.W235S | Missense | 8/8 | - | 1 |
| 1-180945772-T-C | c.702A>G | p.Q234= | Synonymous | 8/8 | - | 1 |
| 1-180945774-G-A | c.700C>T | p.Q234* | Nonsense | 8/8 | - | 1 |
| 1-180945775-G-A | c.699C>T | p.R233= | Synonymous | 8/8 | - | 1 |
| 1-180945776-C-T | c.698G>A | p.R233H | Missense | 8/8 | - | 1 |
| 1-180945779-C-A | c.695G>T | p.R232L | Missense | 8/8 | - | 1 |
| 1-180945780-G-A | c.694C>T | p.R232W | Missense | 8/8 | - | 3 |
| 1-180950818-G-A | c.691+2995C>T | - | IntronicSNV | - | 7/7 | 1 |
| 1-180952294-C-T | c.691+1519G>A | - | IntronicSNV | - | 7/7 | 2 |
| 1-180953811-A-C | c.691+2T>G | - | IntronicSNV | - | 7/7 | 1 |
| 1-180953816-T-A | c.688A>T | p.S230C | Missense | 7/8 | - | 1 |
| 1-180953825-G-A | c.679C>T | p.H227Y | Missense | 7/8 | - | 2 |
| 1-180953829-T-A | c.675A>T | p.V225= | Synonymous | 7/8 | - | 3 |
| 1-180953829-T-C | c.675A>G | p.V225= | Synonymous | 7/8 | - | 2 |
| 1-180953829-T-G | c.675A>C | p.V225= | Synonymous | 7/8 | - | 2 |
| 1-180953832-T-A | c.672A>T | p.K224N | Missense | 7/8 | - | 1 |
| 1-180953832-T-G | c.672A>C | p.K224N | Missense | 7/8 | - | 1 |
| 1-180953832-TTT-GTC | c.670_672delinsGAC | p.K224D | Missense | 7/8 | - | 1 |
| 1-180953835-T-A | c.669A>T | p.A223= | Synonymous | 7/8 | - | 1 |
| 1-180953835-T-C | c.669A>G | p.A223= | Synonymous | 7/8 | - | 2 |
| 1-180953835-T-G | c.669A>C | p.A223= | Synonymous | 7/8 | - | 1 |
| 1-180953844-C-T | c.660G>A | p.K220= | Synonymous | 7/8 | - | 2 |
| 1-180953850-C-A | c.654G>T | p.V218= | Synonymous | 7/8 | - | 1 |
| 1-180953853-A-G | c.651T>C | p.N217= | Synonymous | 7/8 | - | 26 |
| 1-180953863-CG-TA | c.640_641delinsTA | p.R214* | Nonsense | 7/8 | - | 1 |
| 1-180953863-C-T | c.641G>A | p.R214Q | Missense | 7/8 | - | 1 |
| 1-180953864-G-A | c.640C>T | p.R214W | Missense | 7/8 | - | 4 |
| 1-180953885-C-T | c.619G>A | p.E207K | Missense | 7/8 | - | 2 |
| 1-180953886-G-A | c.618C>T | p.H206= | Synonymous | 7/8 | - | 2 |
| 1-180953888-G-T | c.616C>A | p.H206N | Missense | 7/8 | - | 1 |
| 1-180953892-G-C | c.612C>G | p.F204L | Missense | 7/8 | - | 2 |
| 1-180953892-G-T | c.612C>A | p.F204L | Missense | 7/8 | - | 1 |
| 1-180953894-A-G | c.610T>C | p.F204L | Missense | 7/8 | - | 1 |
| 1-180953905-A-G | c.599T>C | p.M200T | Missense | 7/8 | - | 1 |
| 1-180953906-T-C | c.598A>G | p.M200V | Missense | 7/8 | - | 1 |
| 1-180953907-A-G | c.597T>C | p.V199= | Synonymous | 7/8 | - | 1 |
| 1-180954089-A-G | c.597-182T>C | - | IntronicSNV | - | 6/7 | 1 |
| 1-180954089-A-T | c.597-182T>A | - | IntronicSNV | - | 6/7 | 1 |
| 1-180954130-C-G | c.597-223G>C | - | IntronicSNV | - | 6/7 | 2 |
| 1-180954130-C-T | c.597-223G>A | - | IntronicSNV | - | 6/7 | 2 |
| 1-180956905-A-G | c.596+470T>C | - | IntronicSNV | - | 6/7 | 2 |
| 1-180956905-A-T | c.596+470T>A | - | IntronicSNV | - | 6/7 | 2 |
| 1-180956935-T-A | c.596+440A>T | - | IntronicSNV | - | 6/7 | 1 |
| 1-180957130-C-A | c.596+245G>T | - | IntronicSNV | - | 6/7 | 4 |
| 1-180957314-T-C | c.596+61A>G | - | IntronicSNV | - | 6/7 | 1 |
| 1-180957377-T-G | c.594A>C | p.A198= | Synonymous | 6/8 | - | 1 |
| 1-180957379-C-T | c.592G>A | p.A198T | Missense | 6/8 | - | 1 |
| 1-180957381-T-A | c.590A>T | p.Q197L | Missense | 6/8 | - | 1 |
| 1-180957388-C-A | c.583G>T | p.E195* | Nonsense | 6/8 | - | 1 |
| 1-180957388-C-T | c.583G>A | p.E195K | Missense | 6/8 | - | 3 |
| 1-180957389-C-A | c.582G>T | p.L194= | Synonymous | 6/8 | - | 1 |
| 1-180957394-C-T | c.577G>A | p.E193K | Missense | 6/8 | - | 1 |
| 1-180957401-G-A | c.570C>T | p.I190= | Synonymous | 6/8 | - | 2 |
| 1-180957401-G-T | c.570C>A | p.I190= | Synonymous | 6/8 | - | 1 |
| 1-180957405-C-T | c.566G>A | p.R189H | Missense | 6/8 | - | 1 |
| 1-180957406-G-A | c.565C>T | p.R189C | Missense | 6/8 | - | 1 |
| 1-180957410-G-C | c.561C>G | p.S187= | Synonymous | 6/8 | - | 1 |
| 1-180957419-C-T | c.552G>A | p.K184= | Synonymous | 6/8 | - | 2 |
| 1-180957420-T-C | c.551A>G | p.K184R | Missense | 6/8 | - | 1 |
| 1-180957429-C-T | c.542G>A | p.G181E | Missense | 6/8 | - | 1 |
| 1-180957435-CT-AA | c.535_536delinsTT | p.S179F | Missense | 6/8 | - | 1 |
| 1-180957437-G-A | c.534C>T | p.G178= | Synonymous | 6/8 | - | 3 |
| 1-180957443-G-A | c.528C>T | p.V176= | Synonymous | 6/8 | - | 4 |
| 1-180957443-G-C | c.528C>G | p.V176= | Synonymous | 6/8 | - | 3 |
| 1-180957443-G-T | c.528C>A | p.V176= | Synonymous | 6/8 | - | 3 |
| 1-180957453-A-G | c.518T>C | p.L173S | Missense | 6/8 | - | 1 |
| 1-180957461-A-C | c.510T>G | p.D170E | Missense | 6/8 | - | 1 |
| 1-180957461-A-T | c.510T>A | p.D170E | Missense | 6/8 | - | 1 |
| 1-180957463-C-T | c.508G>A | p.D170N | Missense | 6/8 | - | 2 |
| 1-180957476-G-A | c.495C>T | p.I165= | Synonymous | 6/8 | - | 3 |
| 1-180957480-A-C | c.491T>G | p.L164W | Missense | 6/8 | - | 1 |
| 1-180957625-G-A | c.490-144C>T | - | IntronicSNV | - | 5/7 | 1 |
| 1-180957962-T-G | c.490-481A>C | - | IntronicSNV | - | 5/7 | 2 |
| 1-180958946-A-G | c.489+174T>C | - | IntronicSNV | - | 5/7 | 1 |
| 1-180959120-C-T | c.489G>A | p.Q163= | Synonymous | 5/8 | - | 1 |
| 1-180959123-C-A | c.486G>T | p.Q162H | Missense | 5/8 | - | 1 |
| 1-180959123-C-G | c.486G>C | p.Q162H | Missense | 5/8 | - | 1 |
| 1-180959126-C-T | c.483G>A | p.Q161= | Synonymous | 5/8 | - | 1 |
| 1-180959135-C-A | c.474G>T | p.Q158H | Missense | 5/8 | - | 1 |
| 1-180959135-C-G | c.474G>C | p.Q158H | Missense | 5/8 | - | 1 |
| 1-180959137-G-A | c.472C>T | p.Q158* | Nonsense | 5/8 | - | 1 |
| 1-180959137-G-T | c.472C>A | p.Q158K | Missense | 5/8 | - | 1 |
| 1-180959145-A-G | c.464T>C | p.I155T | Missense | 5/8 | - | 5 |
| 1-180959151-T-G | c.458A>C | p.H153P | Missense | 5/8 | - | 1 |
| 1-180959152-G-A | c.457C>T | p.H153Y | Missense | 5/8 | - | 2 |
| 1-180959152-G-C | c.457C>G | p.H153D | Missense | 5/8 | - | 7 |
| 1-180959153-A-C | c.456T>G | p.S152= | Synonymous | 5/8 | - | 2 |
| 1-180959153-A-G | c.456T>C | p.S152= | Synonymous | 5/8 | - | 2 |
| 1-180959153-A-T | c.456T>A | p.S152= | Synonymous | 5/8 | - | 2 |
| 1-180959154-G-T | c.455C>A | p.S152Y | Missense | 5/8 | - | 3 |
| 1-180959156-A-G | c.453T>C | p.N151= | Synonymous | 5/8 | - | 1 |
| 1-180959158-T-G | c.451A>C | p.N151H | Missense | 5/8 | - | 1 |
| 1-180959161-C-T | c.448G>A | p.A150T | Missense | 5/8 | - | 2 |
| 1-180959165-C-A | c.444G>T | p.Q148H | Missense | 5/8 | - | 1 |
| 1-180959165-C-G | c.444G>C | p.Q148H | Missense | 5/8 | - | 1 |
| 1-180959168-G-A | c.441C>T | p.L147= | Synonymous | 5/8 | - | 1 |
| 1-180959168-G-C | c.441C>G | p.L147= | Synonymous | 5/8 | - | 1 |
| 1-180959168-G-T | c.441C>A | p.L147= | Synonymous | 5/8 | - | 1 |
| 1-180959171-C-T | c.438G>A | p.E146= | Synonymous | 5/8 | - | 1 |
| 1-180959176-G-A | c.433C>T | p.R145* | Nonsense | 5/8 | - | 3 |
| 1-180959180-C-T | c.429G>A | p.L143= | Synonymous | 5/8 | - | 1 |
| 1-180959184-C-T | c.425G>A | p.R142H | Missense | 5/8 | - | 2 |
| 1-180959185-G-A | c.424C>T | p.R142C | Missense | 5/8 | - | 2 |
| 1-180959186-C-A | c.423G>T | p.G141= | Synonymous | 5/8 | - | 1 |
| 1-180959186-C-G | c.423G>C | p.G141= | Synonymous | 5/8 | - | 1 |
| 1-180959186-C-T | c.423G>A | p.G141= | Synonymous | 5/8 | - | 1 |
| 1-180959188-C-G | c.421G>C | p.G141R | Missense | 5/8 | - | 1 |
| 1-180959188-C-T | c.421G>A | p.G141R | Missense | 5/8 | - | 1 |
| 1-180959194-T-C | c.415A>G | p.K139E | Missense | 5/8 | - | 1 |
| 1-180959211-CT-AA | c.397_398delinsTT | p.S133F | Missense | 5/8 | - | 1 |
| 1-180959213-C-A | c.396G>T | p.W132C | Missense | 5/8 | - | 1 |
| 1-180959213-C-G | c.396G>C | p.W132C | Missense | 5/8 | - | 1 |
| 1-180959222-G-A | c.387C>T | p.S129= | Synonymous | 5/8 | - | 1 |
| 1-180959222-G-C | c.387C>G | p.S129R | Missense | 5/8 | - | 1 |
| 1-180959222-G-T | c.387C>A | p.S129R | Missense | 5/8 | - | 1 |
| 1-180959224-T-G | c.385A>C | p.S129R | Missense | 5/8 | - | 1 |
| 1-180959229-C-G | c.380G>C | p.S127T | Missense | 5/8 | - | 1 |
| 1-180959230-T-C | c.379A>G | p.S127G | Missense | 5/8 | - | 1 |
| 1-180959233-C-T | c.376G>A | p.D126N | Missense | 5/8 | - | 3 |
| 1-180959235-C-T | c.374G>A | p.G125E | Missense | 5/8 | - | 2 |
| 1-180959237-C-A | c.372G>T | p.L124= | Synonymous | 5/8 | - | 1 |
| 1-180959237-C-G | c.372G>C | p.L124= | Synonymous | 5/8 | - | 1 |
| 1-180959237-C-T | c.372G>A | p.L124= | Synonymous | 5/8 | - | 1 |
| 1-180959239-G-A | c.370C>T | p.L124= | Synonymous | 5/8 | - | 2 |
| 1-180959240-C-CT | c.368_369insA | p.L124Afs*16 | Frameshift | 5/8 | - | 1 |
| 1-180959242-G-C | c.367C>G | p.L123V | Missense | 5/8 | - | 2 |
| 1-180959245-C-A | c.364G>T | p.A122S | Missense | 5/8 | - | 1 |
| 1-180961245-G-A | c.363+1254C>T | - | IntronicSNV | - | 4/7 | 1 |
| 1-180962282-A-G | c.363+217T>C | - | IntronicSNV | - | 4/7 | 28 |
| 1-180962504-T-TA | c.357dup | p.R120* | Nonsense | 4/8 | - | 1 |
| 1-180962508-T-C | c.354A>G | p.K118= | Synonymous | 4/8 | - | 1 |
| 1-180962512-C-A | c.350G>T | p.R117I | Missense | 4/8 | - | 2 |
| 1-180962516-C-T | c.346G>A | p.E116K | Missense | 4/8 | - | 1 |
| 1-180962526-C-T | c.336G>A | p.Q112= | Synonymous | 4/8 | - | 2 |
| 1-180962532-A-C | c.330T>G | p.S110= | Synonymous | 4/8 | - | 1 |
| 1-180962532-A-G | c.330T>C | p.S110= | Synonymous | 4/8 | - | 1 |
| 1-180962532-A-T | c.330T>A | p.S110= | Synonymous | 4/8 | - | 1 |
| 1-180962536-G-A | c.326C>T | p.S109L | Missense | 4/8 | - | 1 |
| 1-180962538-A-C | c.324T>G | p.T108= | Synonymous | 4/8 | - | 1 |
| 1-180962538-A-G | c.324T>C | p.T108= | Synonymous | 4/8 | - | 1 |
| 1-180962538-A-T | c.324T>A | p.T108= | Synonymous | 4/8 | - | 1 |
| 1-180962540-T-C | c.322A>G | p.T108A | Missense | 4/8 | - | 1 |
| 1-180962544-C-A | c.318G>T | p.M106I | Missense | 4/8 | - | 1 |
| 1-180962544-C-G | c.318G>C | p.M106I | Missense | 4/8 | - | 1 |
| 1-180962544-C-T | c.318G>A | p.M106I | Missense | 4/8 | - | 1 |
| 1-180962549-G-A | c.313C>T | p.Q105* | Nonsense | 4/8 | - | 4 |
| 1-180962550-A-C | c.312T>G | p.D104E | Missense | 4/8 | - | 1 |
| 1-180962550-A-T | c.312T>A | p.D104E | Missense | 4/8 | - | 1 |
| 1-180962552-C-T | c.310G>A | p.D104N | Missense | 4/8 | - | 1 |
| 1-180962555-T-TA | c.306_307insT | p.K103* | Nonsense | 4/8 | - | 1 |
| 1-180962581-G-A | c.301-20C>T | - | IntronicSNV | - | 3/7 | 1 |
| 1-180963000-G-GA | c.301-440_301-439insT | - | IntronicInsertion | - | 3/7 | 1 |
| 1-180967736-C-A | c.300+4006G>T | - | IntronicSNV | - | 3/7 | 1 |
| 1-180968041-C-G | c.300+3701G>C | - | IntronicSNV | - | 3/7 | 1 |
| 1-180971743-C-A | c.299G>T | p.R100M | Missense | 3/8 | - | 2 |
| 1-180971745-GAC-CAT | c.295_297delinsATG | p.V99M | Missense | 3/8 | - | 1 |
| 1-180971751-T-A | c.291A>T | p.Q97H | Missense | 3/8 | - | 1 |
| 1-180971751-T-G | c.291A>C | p.Q97H | Missense | 3/8 | - | 1 |
| 1-180971755-C-T | c.287G>A | p.R96Q | Missense | 3/8 | - | 2 |
| 1-180971758-G-A | c.284C>T | p.T95I | Missense | 3/8 | - | 1 |
| 1-180971758-G-C | c.284C>G | p.T95S | Missense | 3/8 | - | 1 |
| 1-180971759-T-A | c.283A>T | p.T95S | Missense | 3/8 | - | 1 |
| 1-180971784-A-G | c.258T>C | p.S86= | Synonymous | 3/8 | - | 2 |
| 1-180971789-A-G | c.253T>C | p.L85= | Synonymous | 3/8 | - | 1 |
| 1-180971792-C-T | c.250G>A | p.E84K | Missense | 3/8 | - | 2 |
| 1-180971797-G-A | c.245C>T | p.A82V | Missense | 3/8 | - | 1 |
| 1-180971799-A-G | c.243T>C | p.D81= | Synonymous | 3/8 | - | 1 |
| 1-180971808-A-C | c.234T>G | p.F78L | Missense | 3/8 | - | 1 |
| 1-180971808-A-T | c.234T>A | p.F78L | Missense | 3/8 | - | 1 |
| 1-180971810-A-G | c.232T>C | p.F78L | Missense | 3/8 | - | 2 |
| 1-180971816-T-C | c.226A>G | p.R76G | Missense | 3/8 | - | 1 |
| 1-180971818-G-T | c.224C>A | p.P75H | Missense | 3/8 | - | 1 |
| 1-180971823-T-A | c.219A>T | p.A73= | Synonymous | 3/8 | - | 2 |
| 1-180971823-T-C | c.219A>G | p.A73= | Synonymous | 3/8 | - | 2 |
| 1-180971823-T-G | c.219A>C | p.A73= | Synonymous | 3/8 | - | 2 |
| 1-180971827-T-C | c.215A>G | p.E72G | Missense | 3/8 | - | 1 |
| 1-180971828-C-T | c.214G>A | p.E72K | Missense | 3/8 | - | 6 |
| 1-180971835-G-C | c.207C>G | p.S69R | Missense | 3/8 | - | 1 |
| 1-180971835-G-T | c.207C>A | p.S69R | Missense | 3/8 | - | 1 |
| 1-180974430-T-G | c.205A>C | p.S69R | Missense | 2/8 | - | 1 |
| 1-180971835-G-GCTGATGGTTTCATCAAGGTCCTCTAGATCCCACTCTATGCTCCGGAGGTTATTTCTCAGCT | c.206_207insAGCTGAGAAATAACCTCCGGAGCATAGAGTGGGATCTAGAGGACCTTGATGAAACCATCAG | p.S69Rfs*5 | SpliceAcceptorInsertion | - | - | 1 |
| 1-180971836-C-T | c.206G>A | p.S69N | Missense | 3/8 | - | 2 |
| 1-180974431-G-C | c.204C>G | p.I68M | Missense | 2/8 | - | 1 |
| 1-180974434-G-A | c.201C>T | p.T67= | Synonymous | 2/8 | - | 1 |
| 1-180974435-G-A | c.200C>T | p.T67I | Missense | 2/8 | - | 1 |
| 1-180974442-C-G | c.193G>C | p.D65H | Missense | 2/8 | - | 1 |
| 1-180974444-A-G | c.191T>C | p.L64P | Missense | 2/8 | - | 1 |
| 1-180974445-G-A | c.190C>T | p.L64F | Missense | 2/8 | - | 1 |
| 1-180974451-C-T | c.184G>A | p.E62K | Missense | 2/8 | - | 5 |
| 1-180974456-T-C | c.179A>G | p.D60G | Missense | 2/8 | - | 1 |
| 1-180974468-C-T | c.167G>A | p.S56N | Missense | 2/8 | - | 1 |
| 1-180974471-C-T | c.164G>A | p.R55Q | Missense | 2/8 | - | 1 |
| 1-180974472-G-A | c.163C>T | p.R55W | Missense | 2/8 | - | 1 |
| 1-180974475-G-A | c.160C>T | p.L54F | Missense | 2/8 | - | 3 |
| 1-180974490-C-T | c.145G>A | p.E49K | Missense | 2/8 | - | 6 |
| 1-180974500-C-A | c.135G>T | p.W45C | Missense | 2/8 | - | 1 |
| 1-180974500-C-T | c.135G>A | p.W45* | Nonsense | 2/8 | - | 1 |
| 1-180974501-C-T | c.134G>A | p.W45* | Nonsense | 2/8 | - | 1 |
| 1-180974505-C-T | c.130G>A | p.D44N | Missense | 2/8 | - | 2 |
| 1-180974506-G-A | c.129C>T | p.I43= | Synonymous | 2/8 | - | 5 |
| 1-180974506-G-T | c.129C>A | p.I43= | Synonymous | 2/8 | - | 4 |
| 1-180974521-T-A | c.114A>T | p.A38= | Synonymous | 2/8 | - | 1 |
| 1-180974521-T-C | c.114A>G | p.A38= | Synonymous | 2/8 | - | 1 |
| 1-180974521-T-G | c.114A>C | p.A38= | Synonymous | 2/8 | - | 1 |
| 1-180974531-G-C | c.104C>G | p.P35R | Missense | 2/8 | - | 1 |
| 1-180974531-GG-CC | c.103_104inv | p.P35G | Missense | 2/8 | - | 2 |
| 1-180974531-G-T | c.104C>A | p.P35H | Missense | 2/8 | - | 2 |
| 1-180974535-C-A | c.100G>T | p.D34Y | Missense | 2/8 | - | 1 |
| 1-180974552-C-T | c.83G>A | p.W28* | Nonsense | 2/8 | - | 3 |
| 1-180974554-T-A | c.81A>T | p.R27S | Missense | 2/8 | - | 1 |
| 1-180974554-T-G | c.81A>C | p.R27S | Missense | 2/8 | - | 1 |
| 1-180974557-C-A | c.78G>T | p.Q26H | Missense | 2/8 | - | 1 |
| 1-180974566-T-A | c.69A>T | p.G23= | Synonymous | 2/8 | - | 1 |
| 1-180974566-T-C | c.69A>G | p.G23= | Synonymous | 2/8 | - | 1 |
| 1-180974566-TCC-GCT | c.67_69delinsAGC | p.G23S | Missense | 2/8 | - | 1 |
| 1-180974566-T-G | c.69A>C | p.G23= | Synonymous | 2/8 | - | 1 |
| 1-180974571-G-C | c.64C>G | p.Q22E | Missense | 2/8 | - | 1 |
| 1-180974577-T-C | c.58A>G | p.T20A | Missense | 2/8 | - | 2 |
| 1-180974579-T-C | c.56A>G | p.N19S | Missense | 2/8 | - | 1 |
| 1-180974585-G-C | c.50C>G | p.A17G | Missense | 2/8 | - | 1 |
| 1-180974585-GC-TG | c.49_50delinsCA | p.A17Q | Missense | 2/8 | - | 1 |
| 1-180974587-T-C | c.48A>G | p.K16= | Synonymous | 2/8 | - | 1 |
| 1-180974595-C-G | c.40G>C | p.V14L | Missense | 2/8 | - | 1 |
| 1-180974596-C-T | c.39G>A | p.E13= | Synonymous | 2/8 | - | 2 |
| 1-180981696-G-C | c.36-7097C>G | - | IntronicSNV | - | 1/7 | 2 |
| 1-180987663-G-A | c.35+4112C>T | - | IntronicSNV | - | 1/7 | 1 |
| 1-180987663-G-T | c.35+4112C>A | - | IntronicSNV | - | 1/7 | 1 |
| 1-180988636-C-T | c.35+3139G>A | - | IntronicSNV | - | 1/7 | 2 |
| 1-180989905-A-G | c.35+1870T>C | - | IntronicSNV | - | 1/7 | 1 |
| 1-180991663-C-T | c.35+112G>A | - | IntronicSNV | - | 1/7 | 1 |
| 1-180991665-C-G | c.35+110G>C | - | IntronicSNV | - | 1/7 | 8 |
| 1-180991665-C-T | c.35+110G>A | - | IntronicSNV | - | 1/7 | 6 |
| 1-180991690-T-C | c.35+85A>G | - | IntronicSNV | - | 1/7 | 1 |
| 1-180991796-T-A | c.14A>T | p.D5V | Missense | 1/8 | - | 2 |
| 1-180991856-C-A | c.-47G>T | - | 5-UTRSNV | 1/8 | - | 1 |
| 1-180991856-C-T | c.-47G>A | - | 5-UTRSNV | 1/8 | - | 1 |