| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 3-126423112-C-G | c.-44C>G | - | 5-UTRSNV | 1/8 | - | 1 |
| 3-126423112-C-T | c.-44C>T | - | 5-UTRSNV | 1/8 | - | 1 |
| 3-126423113-C-A | c.-43C>A | - | 5-UTRSNV | 1/8 | - | 1 |
| 3-126423113-C-G | c.-43C>G | - | 5-UTRSNV | 1/8 | - | 1 |
| 3-126423113-C-T | c.-43C>T | - | 5-UTRSNV | 1/8 | - | 1 |
| 3-126423139-C-T | c.-17C>T | - | 5-UTRSNV | 1/8 | - | 1 |
| 3-126423161-G-GT | c.6_7insT | p.S3* | Nonsense | 1/8 | - | 1 |
| 3-126423163-G-A | c.8G>A | p.S3N | Missense | 1/8 | - | 1 |
| 3-126423167-G-C | c.12G>C | p.T4= | Synonymous | 1/8 | - | 1 |
| 3-126423173-C-T | c.18C>T | p.S6= | Synonymous | 1/8 | - | 1 |
| 3-126423179-G-A | c.24G>A | p.E8= | Synonymous | 1/8 | - | 1 |
| 3-126423181-G-A | c.26G>A | p.G9D | Missense | 1/8 | - | 1 |
| 3-126423183-C-T | c.28C>T | p.R10C | Missense | 1/8 | - | 1 |
| 3-126423186-AGG-TGT | c.31_33delinsTGT | p.R11C | Missense | 1/8 | - | 1 |
| 3-126423188-G-A | c.33G>A | p.R11= | Synonymous | 1/8 | - | 1 |
| 3-126423189-G-A | c.34G>A | p.V12M | Missense | 1/8 | - | 2 |
| 3-126423194-C-A | c.39C>A | p.S13= | Synonymous | 1/8 | - | 1 |
| 3-126423194-C-G | c.39C>G | p.S13= | Synonymous | 1/8 | - | 1 |
| 3-126423194-C-T | c.39C>T | p.S13= | Synonymous | 1/8 | - | 1 |
| 3-126423210-G-A | c.55G>A | p.E19K | Missense | 1/8 | - | 1 |
| 3-126423215-G-C | c.60G>C | p.E20D | Missense | 1/8 | - | 1 |
| 3-126423215-G-T | c.60G>T | p.E20D | Missense | 1/8 | - | 1 |
| 3-126423216-C-T | c.61C>T | p.R21W | Missense | 1/8 | - | 3 |
| 3-126423222-C-T | c.67C>T | p.R23W | Missense | 1/8 | - | 2 |
| 3-126423223-G-C | c.68G>C | p.R23P | Missense | 1/8 | - | 1 |
| 3-126423232-A-C | c.77A>C | p.Q26P | Missense | 1/8 | - | 1 |
| 3-126423437-G-C | c.87+195G>C | - | IntronicSNV | - | 1/7 | 1 |
| 3-126426495-G-C | c.87+3253G>C | - | IntronicSNV | - | 1/7 | 1 |
| 3-126428844-C-T | c.87+5602C>T | - | IntronicSNV | - | 1/7 | 1 |
| 3-126431455-G-A | c.87+8213G>A | - | IntronicSNV | - | 1/7 | 1 |
| 3-126435102-G-A | c.88-10819G>A | - | IntronicSNV | - | 1/7 | 1 |
| 3-126435102-G-T | c.88-10819G>T | - | IntronicSNV | - | 1/7 | 1 |
| 3-126439097-C-T | c.88-6824C>T | - | IntronicSNV | - | 1/7 | 1 |
| 3-126439532-G-A | c.88-6389G>A | - | IntronicSNV | - | 1/7 | 1 |
| 3-126445927-G-A | c.94G>A | p.E32K | Missense | 2/8 | - | 8 |
| 3-126445932-C-T | c.99C>T | p.N33= | Synonymous | 2/8 | - | 4 |
| 3-126445933-G-A | c.100G>A | p.V34M | Missense | 2/8 | - | 1 |
| 3-126445940-A-G | c.107A>G | p.N36S | Missense | 2/8 | - | 6 |
| 3-126445942-C-T | c.109C>T | p.R37C | Missense | 2/8 | - | 1 |
| 3-126445943-G-A | c.110G>A | p.R37H | Missense | 2/8 | - | 2 |
| 3-126445943-G-T | c.110G>T | p.R37L | Missense | 2/8 | - | 1 |
| 3-126445957-A-T | c.124A>T | p.S42C | Missense | 2/8 | - | 1 |
| 3-126445958-G-T | c.125G>T | p.S42I | Missense | 2/8 | - | 1 |
| 3-126445961-C-G | c.128C>G | p.S43C | Missense | 2/8 | - | 1 |
| 3-126445962-T-A | c.129T>A | p.S43= | Synonymous | 2/8 | - | 1 |
| 3-126445962-T-C | c.129T>C | p.S43= | Synonymous | 2/8 | - | 1 |
| 3-126445962-T-G | c.129T>G | p.S43= | Synonymous | 2/8 | - | 1 |
| 3-126445974-CT-C | c.141del | p.T49Hfs*12 | Frameshift | 2/8 | - | 1 |
| 3-126445975-C-T | c.142C>T | p.P48S | Missense | 2/8 | - | 3 |
| 3-126445976-C-T | c.143C>T | p.P48L | Missense | 2/8 | - | 1 |
| 3-126445987-A-G | c.154A>G | p.T52A | Missense | 2/8 | - | 1 |
| 3-126445987-AC-A | c.156del | p.F53Lfs*8 | Frameshift | 2/8 | - | 1 |
| 3-126445990-T-A | c.157T>A | p.F53I | Missense | 2/8 | - | 1 |
| 3-126445994-G-A | c.161G>A | p.G54D | Missense | 2/8 | - | 1 |
| 3-126445996-C-G | c.163C>G | p.L55V | Missense | 2/8 | - | 1 |
| 3-126445999-C-T | c.166C>T | p.Q56* | Nonsense | 2/8 | - | 1 |
| 3-126446005-G-A | c.172G>A | p.G58S | Missense | 2/8 | - | 1 |
| 3-126446006-G-A | c.173G>A | p.G58D | Missense | 2/8 | - | 2 |
| 3-126446006-G-T | c.173G>T | p.G58V | Missense | 2/8 | - | 2 |
| 3-126446009-A-T | c.176A>T | p.N59I | Missense | 2/8 | - | 1 |
| 3-126446010-C-A | c.177C>A | p.N59K | Missense | 2/8 | - | 1 |
| 3-126446010-C-G | c.177C>G | p.N59K | Missense | 2/8 | - | 1 |
| 3-126446011-T-A | c.178T>A | p.L60M | Missense | 2/8 | - | 1 |
| 3-126446017-G-A | c.184G>A | p.A62T | Missense | 2/8 | - | 1 |
| 3-126446017-G-C | c.184G>C | p.A62P | Missense | 2/8 | - | 1 |
| 3-126446017-GC-AA | c.184_185delinsAA | p.A62N | Missense | 2/8 | - | 1 |
| 3-126446017-G-T | c.184G>T | p.A62S | Missense | 2/8 | - | 1 |
| 3-126446020-C-T | c.187C>T | p.P63S | Missense | 2/8 | - | 2 |
| 3-126446074-A-G | c.196+45A>G | - | IntronicSNV | - | 2/7 | 1 |
| 3-126449056-A-G | c.197-348A>G | - | IntronicSNV | - | 2/7 | 1 |
| 3-126449057-C-A | c.197-347C>A | - | IntronicSNV | - | 2/7 | 1 |
| 3-126449413-T-A | c.206T>A | p.L69Q | Missense | 3/8 | - | 1 |
| 3-126449422-C-CG | c.219dup | p.S74Efs*18 | Frameshift | 3/8 | - | 1 |
| 3-126449429-C-T | c.222C>T | p.S74= | Synonymous | 3/8 | - | 1 |
| 3-126449434-G-C | c.227G>C | p.G76A | Missense | 3/8 | - | 1 |
| 3-126449442-C-T | c.235C>T | p.Q79* | Nonsense | 3/8 | - | 1 |
| 3-126449444-G-C | c.237G>C | p.Q79H | Missense | 3/8 | - | 1 |
| 3-126449444-G-T | c.237G>T | p.Q79H | Missense | 3/8 | - | 1 |
| 3-126449449-C-T | c.242C>T | p.S81L | Missense | 3/8 | - | 1 |
| 3-126449452-G-A | c.245G>A | p.G82E | Missense | 3/8 | - | 1 |
| 3-126449456-G-GT | c.249_250insT | p.K84* | Nonsense | 3/8 | - | 1 |
| 3-126449469-A-C | c.262A>C | p.K88Q | Missense | 3/8 | - | 1 |
| 3-126449577-C-T | c.266+104C>T | - | IntronicSNV | - | 3/7 | 1 |
| 3-126451764-G-A | c.267-157G>A | - | IntronicSNV | - | 3/7 | 1 |
| 3-126451805-G-A | c.267-116G>A | - | IntronicSNV | - | 3/7 | 1 |
| 3-126451805-G-T | c.267-116G>T | - | IntronicSNV | - | 3/7 | 1 |
| 3-126451810-C-T | c.267-111C>T | - | IntronicSNV | - | 3/7 | 1 |
| 3-126451935-A-C | c.281A>C | p.H94P | Missense | 4/8 | - | 1 |
| 3-126451937-GC-TG | c.283_284delinsTG | p.A95C | Missense | 4/8 | - | 1 |
| 3-126451937-G-T | c.283G>T | p.A95S | Missense | 4/8 | - | 31 |
| 3-126451938-C-G | c.284C>G | p.A95G | Missense | 4/8 | - | 4 |
| 3-126451939-T-A | c.285T>A | p.A95= | Synonymous | 4/8 | - | 2 |
| 3-126451939-T-C | c.285T>C | p.A95= | Synonymous | 4/8 | - | 2 |
| 3-126451939-T-G | c.285T>G | p.A95= | Synonymous | 4/8 | - | 2 |
| 3-126451940-G-A | c.286G>A | p.A96T | Missense | 4/8 | - | 2 |
| 3-126451949-G-A | c.295G>A | p.D99N | Missense | 4/8 | - | 4 |
| 3-126451953-A-C | c.299A>C | p.K100T | Missense | 4/8 | - | 1 |
| 3-126451954-G-C | c.300G>C | p.K100N | Missense | 4/8 | - | 1 |
| 3-126451963-G-A | c.309G>A | p.Q103= | Synonymous | 4/8 | - | 2 |
| 3-126451980-G-A | c.326G>A | p.R109K | Missense | 4/8 | - | 1 |
| 3-126451984-G-A | c.330G>A | p.E110= | Synonymous | 4/8 | - | 1 |
| 3-126451985-G-A | c.331G>A | p.A111T | Missense | 4/8 | - | 3 |
| 3-126451985-G-C | c.331G>C | p.A111P | Missense | 4/8 | - | 3 |
| 3-126451988-G-A | c.334G>A | p.A112T | Missense | 4/8 | - | 1 |
| 3-126451996-G-A | c.342G>A | p.K114= | Synonymous | 4/8 | - | 1 |
| 3-126452005-G-A | c.351G>A | p.K117= | Synonymous | 4/8 | - | 1 |
| 3-126452006-G-A | c.352G>A | p.A118T | Missense | 4/8 | - | 1 |
| 3-126452010-C-T | c.356C>T | p.S119F | Missense | 4/8 | - | 5 |
| 3-126452012-CTG-TGT | c.358_360delinsTGT | p.L120C | Missense | 4/8 | - | 2 |
| 3-126452013-T-G | c.359T>G | p.L120R | Missense | 4/8 | - | 1 |
| 3-126452019-C-G | c.365C>G | p.T122R | Missense | 4/8 | - | 1 |
| 3-126452019-C-T | c.365C>T | p.T122M | Missense | 4/8 | - | 1 |
| 3-126452023-C-A | c.369C>A | p.G123= | Synonymous | 4/8 | - | 1 |
| 3-126452023-C-G | c.369C>G | p.G123= | Synonymous | 4/8 | - | 3 |
| 3-126452031-G-A | c.377G>A | p.S126N | Missense | 4/8 | - | 2 |
| 3-126452035-C-T | c.381C>T | p.I127= | Synonymous | 4/8 | - | 1 |
| 3-126452042-G-A | c.388G>A | p.E130K | Missense | 4/8 | - | 2 |
| 3-126452045-G-A | c.391G>A | p.E131K | Missense | 4/8 | - | 1 |
| 3-126452047-G-A | c.393G>A | p.E131= | Synonymous | 4/8 | - | 1 |
| 3-126452060-CGG-AGC | c.406_408delinsAGC | p.R136S | Missense | 4/8 | - | 2 |
| 3-126452061-G-A | c.407G>A | p.R136Q | Missense | 4/8 | - | 4 |
| 3-126452133-C-T | c.411+68C>T | - | IntronicSNV | - | 4/7 | 1 |
| 3-126456716-C-T | c.411+4651C>T | - | IntronicSNV | - | 4/7 | 1 |
| 3-126459620-G-T | c.411+7555G>T | - | IntronicSNV | - | 4/7 | 1 |
| 3-126461919-C-G | c.411+9854C>G | - | IntronicSNV | - | 4/7 | 1 |
| 3-126461919-C-T | c.411+9854C>T | - | IntronicSNV | - | 4/7 | 1 |
| 3-126463532-AT-A | c.411+11477del | - | IntronicDeletion | - | 4/7 | 1 |
| 3-126464425-C-CA | c.411+12366dup | - | IntronicInsertion | - | 4/7 | 1 |
| 3-126465774-C-G | c.411+13709C>G | - | IntronicSNV | - | 4/7 | 1 |
| 3-126466602-C-A | c.411+14537C>A | - | IntronicSNV | - | 4/7 | 1 |
| 3-126469257-C-G | c.411+17192C>G | - | IntronicSNV | - | 4/7 | 1 |
| 3-126470406-C-T | c.411+18341C>T | - | IntronicSNV | - | 4/7 | 1 |
| 3-126470530-G-T | c.411+18465G>T | - | IntronicSNV | - | 4/7 | 1 |
| 3-126470894-A-G | c.411+18829A>G | - | IntronicSNV | - | 4/7 | 1 |
| 3-126475162-G-T | c.411+23097G>T | - | IntronicSNV | - | 4/7 | 1 |
| 3-126483069-A-T | c.411+31004A>T | - | IntronicSNV | - | 4/7 | 1 |
| 3-126485690-G-A | c.411+33625G>A | - | IntronicSNV | - | 4/7 | 1 |
| 3-126498963-A-G | c.411+46898A>G | - | IntronicSNV | - | 4/7 | 1 |
| 3-126499248-T-C | c.411+47183T>C | - | IntronicSNV | - | 4/7 | 1 |
| 3-126513840-T-A | c.412-57650T>A | - | IntronicSNV | - | 4/7 | 1 |
| 3-126519445-C-T | c.412-52045C>T | - | IntronicSNV | - | 4/7 | 1 |
| 3-126522663-T-A | c.412-48827T>A | - | IntronicSNV | - | 4/7 | 1 |
| 3-126525337-T-G | c.412-46153T>G | - | IntronicSNV | - | 4/7 | 1 |
| 3-126534497-C-A | c.412-36993C>A | - | IntronicSNV | - | 4/7 | 1 |
| 3-126534497-C-G | c.412-36993C>G | - | IntronicSNV | - | 4/7 | 1 |
| 3-126534497-C-T | c.412-36993C>T | - | IntronicSNV | - | 4/7 | 1 |
| 3-126569611-C-T | c.412-1879C>T | - | IntronicSNV | - | 4/7 | 1 |
| 3-126571493-AGG-CAT | c.415_417delinsCAT | p.R139H | Missense | 5/8 | - | 1 |
| 3-126571494-G-T | c.416G>T | p.R139M | Missense | 5/8 | - | 3 |
| 3-126571516-A-C | c.438A>C | p.A146= | Synonymous | 5/8 | - | 1 |
| 3-126571516-A-G | c.438A>G | p.A146= | Synonymous | 5/8 | - | 1 |
| 3-126571516-A-T | c.438A>T | p.A146= | Synonymous | 5/8 | - | 1 |
| 3-126571521-T-A | c.443T>A | p.L148Q | Missense | 5/8 | - | 1 |
| 3-126571526-C-T | c.448C>T | p.R150C | Missense | 5/8 | - | 1 |
| 3-126571528-C-A | c.450C>A | p.R150= | Synonymous | 5/8 | - | 1 |
| 3-126571528-C-G | c.450C>G | p.R150= | Synonymous | 5/8 | - | 1 |
| 3-126571528-C-T | c.450C>T | p.R150= | Synonymous | 5/8 | - | 4 |
| 3-126571529-C-A | c.451C>A | p.R151S | Missense | 5/8 | - | 1 |
| 3-126571529-C-T | c.451C>T | p.R151C | Missense | 5/8 | - | 4 |
| 3-126571530-G-C | c.452G>C | p.R151P | Missense | 5/8 | - | 2 |
| 3-126571531-T-A | c.453T>A | p.R151= | Synonymous | 5/8 | - | 2 |
| 3-126571531-T-C | c.453T>C | p.R151= | Synonymous | 5/8 | - | 2 |
| 3-126571531-T-G | c.453T>G | p.R151= | Synonymous | 5/8 | - | 2 |
| 3-126571534-C-T | c.456C>T | p.D152= | Synonymous | 5/8 | - | 1 |
| 3-126571546-G-T | c.468G>T | p.K156N | Missense | 5/8 | - | 1 |
| 3-126571559-C-T | c.481C>T | p.R161C | Missense | 5/8 | - | 2 |
| 3-126571560-G-A | c.482G>A | p.R161H | Missense | 5/8 | - | 3 |
| 3-126571560-G-T | c.482G>T | p.R161L | Missense | 5/8 | - | 1 |
| 3-126571562-A-G | c.484A>G | p.I162V | Missense | 5/8 | - | 1 |
| 3-126571565-G-A | c.487G>A | p.E163K | Missense | 5/8 | - | 1 |
| 3-126571570-G-A | c.492G>A | p.R164= | Synonymous | 5/8 | - | 1 |
| 3-126571571-A-C | c.493A>C | p.K165Q | Missense | 5/8 | - | 1 |
| 3-126571572-A-G | c.494A>G | p.K165R | Missense | 5/8 | - | 1 |
| 3-126571679-C-T | c.495+106C>T | - | IntronicSNV | - | 5/7 | 1 |
| 3-126572115-A-C | c.495+542A>C | - | IntronicSNV | - | 5/7 | 1 |
| 3-126572349-T-G | c.495+776T>G | - | IntronicSNV | - | 5/7 | 1 |
| 3-126575527-G-A | c.495+3954G>A | - | IntronicSNV | - | 5/7 | 1 |
| 3-126580570-C-T | c.495+8997C>T | - | IntronicSNV | - | 5/7 | 1 |
| 3-126580806-T-C | c.495+9233T>C | - | IntronicSNV | - | 5/7 | 1 |
| 3-126581197-A-G | c.495+9624A>G | - | IntronicSNV | - | 5/7 | 1 |
| 3-126581288-T-C | c.495+9715T>C | - | IntronicSNV | - | 5/7 | 1 |
| 3-126581429-T-C | c.495+9856T>C | - | IntronicSNV | - | 5/7 | 1 |
| 3-126581481-A-C | c.495+9908A>C | - | IntronicSNV | - | 5/7 | 1 |
| 3-126581487-T-C | c.495+9914T>C | - | IntronicSNV | - | 5/7 | 1 |
| 3-126581562-T-C | c.495+9989T>C | - | IntronicSNV | - | 5/7 | 1 |
| 3-126582429-T-C | c.495+10856T>C | - | IntronicSNV | - | 5/7 | 1 |
| 3-126582567-G-C | c.495+10994G>C | - | IntronicSNV | - | 5/7 | 1 |
| 3-126582635-T-C | c.495+11062T>C | - | IntronicSNV | - | 5/7 | 1 |
| 3-126583992-T-A | c.495+12419T>A | - | IntronicSNV | - | 5/7 | 2 |
| 3-126584030-T-C | c.495+12457T>C | - | IntronicSNV | - | 5/7 | 1 |
| 3-126585433-G-A | c.495+13860G>A | - | IntronicSNV | - | 5/7 | 1 |
| 3-126587290-T-A | c.495+15717T>A | - | IntronicSNV | - | 5/7 | 1 |
| 3-126601112-C-T | c.495+29539C>T | - | IntronicSNV | - | 5/7 | 1 |
| 3-126602332-TTC-T | c.495+30761_495+30762del | - | IntronicDeletion | - | 5/7 | 1 |
| 3-126608748-C-T | c.496-24775C>T | - | IntronicSNV | - | 5/7 | 1 |
| 3-126612552-T-C | c.496-20971T>C | - | IntronicSNV | - | 5/7 | 1 |
| 3-126633419-C-A | c.496-104C>A | - | IntronicSNV | - | 5/7 | 4 |
| 3-126633419-C-G | c.496-104C>G | - | IntronicSNV | - | 5/7 | 4 |
| 3-126633419-C-T | c.496-104C>T | - | IntronicSNV | - | 5/7 | 4 |
| 3-126633524-A-G | c.497A>G | p.N166S | Missense | 6/8 | - | 1 |
| 3-126633525-T-A | c.498T>A | p.N166K | Missense | 6/8 | - | 2 |
| 3-126633525-T-G | c.498T>G | p.N166K | Missense | 6/8 | - | 2 |
| 3-126633526-G-A | c.499G>A | p.A167T | Missense | 6/8 | - | 1 |
| 3-126633529-G-A | c.502G>A | p.E168K | Missense | 6/8 | - | 1 |
| 3-126633529-G-C | c.502G>C | p.E168Q | Missense | 6/8 | - | 1 |
| 3-126633540-A-G | c.513A>G | p.K171= | Synonymous | 6/8 | - | 1 |
| 3-126633550-G-C | c.523G>C | p.E175Q | Missense | 6/8 | - | 1 |
| 3-126633559-C-A | c.532C>A | p.H178N | Missense | 6/8 | - | 1 |
| 3-126633562-G-C | c.535G>C | p.E179Q | Missense | 6/8 | - | 1 |
| 3-126633565-G-T | c.538G>T | p.A180S | Missense | 6/8 | - | 1 |
| 3-126633568-G-A | c.541G>A | p.A181T | Missense | 6/8 | - | 3 |
| 3-126633572-C-A | c.545C>A | p.S182* | Nonsense | 6/8 | - | 2 |
| 3-126633572-C-G | c.545C>G | p.S182* | Nonsense | 6/8 | - | 3 |
| 3-126633586-A-C | c.559A>C | p.T187P | Missense | 6/8 | - | 1 |
| 3-126644573-CT-C | c.566+10984del | - | IntronicDeletion | - | 6/7 | 1 |
| 3-126644974-G-C | c.566+11381G>C | - | IntronicSNV | - | 6/7 | 4 |
| 3-126644986-C-T | c.566+11393C>T | - | IntronicSNV | - | 6/7 | 1 |
| 3-126644987-C-T | c.566+11394C>T | - | IntronicSNV | - | 6/7 | 1 |
| 3-126649956-G-A | c.566+16363G>A | - | IntronicSNV | - | 6/7 | 1 |
| 3-126650732-G-A | c.566+17139G>A | - | IntronicSNV | - | 6/7 | 1 |
| 3-126653373-CT-C | c.566+19780del | - | IntronicDeletion | - | 6/7 | 1 |
| 3-126653373-T-A | c.566+19780T>A | - | IntronicSNV | - | 6/7 | 1 |
| 3-126653373-T-C | c.566+19780T>C | - | IntronicSNV | - | 6/7 | 1 |
| 3-126653373-T-G | c.566+19780T>G | - | IntronicSNV | - | 6/7 | 1 |
| 3-126660458-C-T | c.567-15801C>T | - | IntronicSNV | - | 6/7 | 1 |
| 3-126668390-C-A | c.567-7869C>A | - | IntronicSNV | - | 6/7 | 1 |
| 3-126668390-C-G | c.567-7869C>G | - | IntronicSNV | - | 6/7 | 1 |
| 3-126668391-C-T | c.567-7868C>T | - | IntronicSNV | - | 6/7 | 3 |
| 3-126668428-C-T | c.567-7831C>T | - | IntronicSNV | - | 6/7 | 1 |
| 3-126668464-C-G | c.567-7795C>G | - | IntronicSNV | - | 6/7 | 1 |
| 3-126668464-C-T | c.567-7795C>T | - | IntronicSNV | - | 6/7 | 1 |
| 3-126676263-C-T | c.571C>T | p.R191C | Missense | 7/8 | - | 1 |
| 3-126676264-GC-AA | c.572_573delinsAA | p.R191Q | Missense | 7/8 | - | 1 |
| 3-126676274-G-A | c.582G>A | p.E194= | Synonymous | 7/8 | - | 1 |
| 3-126676277-C-T | c.585C>T | p.P195= | Synonymous | 7/8 | - | 1 |
| 3-126676278-G-A | c.586G>A | p.V196I | Missense | 7/8 | - | 7 |
| 3-126676282-G-A | c.590G>A | p.C197Y | Missense | 7/8 | - | 3 |
| 3-126676285-CA-AT | c.593_594delinsAT | p.S198Y | Missense | 7/8 | - | 1 |
| 3-126676297-C-G | c.605C>G | p.A202G | Missense | 7/8 | - | 2 |
| 3-126676307-C-T | c.615C>T | p.L205= | Synonymous | 7/8 | - | 1 |
| 3-126676314-T-A | c.622T>A | p.Y208N | Missense | 7/8 | - | 1 |
| 3-126676314-T-C | c.622T>C | p.Y208H | Missense | 7/8 | - | 7 |
| 3-126676323-C-T | c.631C>T | p.R211C | Missense | 7/8 | - | 1 |
| 3-126676326-C-T | c.634C>T | p.P212S | Missense | 7/8 | - | 1 |
| 3-126676328-G-A | c.636G>A | p.P212= | Synonymous | 7/8 | - | 1 |
| 3-126676332-G-A | c.640G>A | p.E214K | Missense | 7/8 | - | 1 |
| 3-126676335-G-A | c.643G>A | p.V215M | Missense | 7/8 | - | 1 |
| 3-126676337-G-A | c.645G>A | p.V215= | Synonymous | 7/8 | - | 2 |
| 3-126676346-C-T | c.654C>T | p.C218= | Synonymous | 7/8 | - | 1 |
| 3-126676358-C-A | c.666C>A | p.V222= | Synonymous | 7/8 | - | 1 |
| 3-126676358-C-G | c.666C>G | p.V222= | Synonymous | 7/8 | - | 1 |
| 3-126676358-C-T | c.666C>T | p.V222= | Synonymous | 7/8 | - | 2 |
| 3-126676369-A-G | c.677A>G | p.Q226R | Missense | 7/8 | - | 1 |
| 3-126676371-CGC-AAG | c.679_681delinsAAG | p.R227K | Missense | 7/8 | - | 1 |
| 3-126676371-C-T | c.679C>T | p.R227C | Missense | 7/8 | - | 1 |
| 3-126676372-G-A | c.680G>A | p.R227H | Missense | 7/8 | - | 2 |
| 3-126676377-G-A | c.685G>A | p.V229M | Missense | 7/8 | - | 2 |
| 3-126676384-C-T | c.692C>T | p.A231V | Missense | 7/8 | - | 1 |
| 3-126676385-C-T | c.693C>T | p.A231= | Synonymous | 7/8 | - | 1 |
| 3-126676386-G-A | c.694G>A | p.A232T | Missense | 7/8 | - | 1 |
| 3-126676387-C-T | c.695C>T | p.A232V | Missense | 7/8 | - | 1 |
| 3-126676391-C-T | c.699C>T | p.H233= | Synonymous | 7/8 | - | 1 |
| 3-126676788-T-C | c.702+394T>C | - | IntronicSNV | - | 7/7 | 1 |