| Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
|---|---|---|---|---|---|---|
| 7-73007606-T-C | c.*589A>G | - | 3-UTRSNV | 17/17 | - | 1 |
| 7-73007943-G-A | c.*252C>T | - | 3-UTRSNV | 17/17 | - | 12 |
| 7-73008113-T-C | c.*82A>G | - | 3-UTRSNV | 17/17 | - | 1 |
| 7-73008113-T-G | c.*82A>C | - | 3-UTRSNV | 17/17 | - | 1 |
| 7-73008233-G-A | c.2521C>T | p.Arg841Trp | Missense | 17/17 | - | 1 |
| 7-73008330-G-A | c.2441-17C>T | - | IntronicSNV | - | 16/16 | 1 |
| 7-73008681-G-A | c.2363C>T | p.Thr788Met | Missense | 16/17 | - | 1 |
| 7-73010191-C-T | c.2167G>A | p.Glu723Lys | Missense | 14/17 | - | 1 |
| 7-73010442-C-T | c.2058+41G>A | - | IntronicSNV | - | 13/16 | 12 |
| 7-73010754-C-T | c.1878G>A | p.Leu626Leu | Synonymous | 12/17 | - | 2 |
| 7-73011163-A-G | c.1671+32T>C | - | IntronicSNV | - | 10/16 | 1 |
| 7-73011625-G-A | c.1490C>T | p.Ala497Val | Missense | 9/17 | - | 1 |
| 7-73011767-G-A | c.1348C>T | p.Pro450Ser | Missense | 9/17 | - | 1 |
| 7-73011774-AG-AA | c.1340delinsT | p.Ser447Phe | Nonsense | 9/17 | - | 3 |
| 7-73011947-G-C | c.1168C>G | p.Pro390Ala | Missense | 9/17 | - | 1 |
| 7-73012042-G-A | c.1073C>T | p.Ala358Val | Missense | 9/17 | - | 21 |
| 7-73012785-A-G | c.1072-742T>C | - | IntronicSNV | - | 8/16 | 2 |
| 7-73013269-T-C | c.1071+587A>G | - | IntronicSNV | - | 8/16 | 1 |
| 7-73013901-C-A | c.1026G>T | p.Pro342Pro | Synonymous | 8/17 | - | 2 |
| 7-73013901-C-G | c.1026G>C | p.Pro342Pro | Synonymous | 8/17 | - | 7 |
| 7-73013901-C-T | c.1026G>A | p.Pro342Pro | Synonymous | 8/17 | - | 7 |
| 7-73013995-G-A | c.932C>T | p.Pro311Leu | Missense | 8/17 | - | 1 |
| 7-73015369-G-A | c.902-1344C>T | - | IntronicSNV | - | 7/16 | 4 |
| 7-73015369-G-C | c.902-1344C>G | - | IntronicSNV | - | 7/16 | 4 |
| 7-73015862-G-A | c.902-1837C>T | - | IntronicSNV | - | 7/16 | 1 |
| 7-73015862-G-C | c.902-1837C>G | - | IntronicSNV | - | 7/16 | 1 |
| 7-73016181-T-C | c.902-2156A>G | - | IntronicSNV | - | 7/16 | 5 |
| 7-73016400-A-G | c.902-2375T>C | - | IntronicSNV | - | 7/16 | 3 |
| 7-73016862-T-C | c.902-2837A>G | - | IntronicSNV | - | 7/16 | 3 |
| 7-73017005-A-G | c.902-2980T>C | - | IntronicSNV | - | 7/16 | 14 |
| 7-73017657-C-T | c.901+2361G>A | - | IntronicSNV | - | 7/16 | 5 |
| 7-73018324-T-A | c.901+1694A>T | - | IntronicSNV | - | 7/16 | 1 |
| 7-73018524-T-C | c.901+1494A>G | - | IntronicSNV | - | 7/16 | 1 |
| 7-73019975-A-G | c.901+43T>C | - | IntronicSNV | - | 7/16 | 4 |
| 7-73020062-AG-GC | c.856_857delinsGC | p.Leu286Ala | Missense | 7/17 | - | 1 |
| 7-73020071-TG-GC | c.847_848delinsGC | p.Gln283Ala | Missense | 7/17 | - | 1 |
| 7-73020086-TT-GC | c.832_833delinsGC | p.Asn278Ala | Missense | 7/17 | - | 1 |
| 7-73020210-C-A | c.820+30G>T | - | IntronicSNV | - | 6/16 | 1 |
| 7-73020210-C-T | c.820+30G>A | - | IntronicSNV | - | 6/16 | 1 |
| 7-73020301-T-A | c.759A>T | p.Ser253Ser | Synonymous | 6/17 | - | 2 |
| 7-73020301-T-C | c.759A>G | p.Ser253Ser | Synonymous | 6/17 | - | 2 |
| 7-73020303-A-C | c.757T>G | p.Ser253Ala | Missense | 6/17 | - | 1 |
| 7-73020309-C-T | c.751G>A | p.Asp251Asn | Missense | 6/17 | - | 1 |
| 7-73020328-G-A | c.732C>T | p.Asp244Asp | Synonymous | 6/17 | - | 1 |
| 7-73020337-C-G | c.723G>C | p.Gln241His | Missense | 6/17 | - | 45 |
| 7-73020341-C-A | c.719G>T | p.Arg240Leu | Missense | 6/17 | - | 1 |
| 7-73020439-C-A | c.621G>T | p.Ala207Ala | Synonymous | 6/17 | - | 2 |
| 7-73020439-C-T | c.621G>A | p.Ala207Ala | Synonymous | 6/17 | - | 2 |
| 7-73020676-G-A | c.619-235C>T | - | IntronicSNV | - | 5/16 | 5 |
| 7-73020676-G-C | c.619-235C>G | - | IntronicSNV | - | 5/16 | 5 |
| 7-73020676-G-T | c.619-235C>A | - | IntronicSNV | - | 5/16 | 5 |
| 7-73021331-CCT-CAT | c.590delinsT | p.Arg197Met | Missense | 5/17 | - | 1 |
| 7-73021335-CT-GC | c.586_587delinsGC | p.Ser196Ala | Missense | 5/17 | - | 1 |
| 7-73021654-C-A | c.573+7G>T | - | IntronicSNV | - | 4/16 | 1 |
| 7-73021654-C-T | c.573+7G>A | - | IntronicSNV | - | 4/16 | 1 |
| 7-73021683-CA-GC | c.550_551delinsGC | p.Trp184Ala | Missense | 4/17 | - | 1 |
| 7-73021704-AC-CC | c.530delinsG | p.Val177Gly | Missense | 4/17 | - | 1 |
| 7-73021722-TT-GC | c.511_512delinsGC | p.Lys171Ala | Missense | 4/17 | - | 1 |
| 7-73021728-TA-GC | c.505_506delinsGC | p.Tyr169Ala | Missense | 4/17 | - | 1 |
| 7-73021737-T-G | c.497A>C | p.Glu166Ala | Missense | 4/17 | - | 1 |
| 7-73021927-TT-GC | c.475_476delinsGC | p.Lys159Ala | Missense | 3/17 | - | 1 |
| 7-73021957-AG-GC | c.445_446delinsGC | p.Leu149Ala | Missense | 3/17 | - | 1 |
| 7-73021984-CT-GA | c.418_419delinsTC | p.Ser140Ser | Missense | 3/17 | - | 1 |
| 7-73021984-CT-GC | c.418_419delinsGC | p.Ser140Ala | Missense | 3/17 | - | 1 |
| 7-73022746-G-A | c.401-744C>T | - | IntronicSNV | - | 2/16 | 1 |
| 7-73023062-C-A | c.401-1060G>T | - | IntronicSNV | - | 2/16 | 3 |
| 7-73023881-G-A | c.401-1879C>T | - | IntronicSNV | - | 2/16 | 2 |
| 7-73023881-G-T | c.401-1879C>A | - | IntronicSNV | - | 2/16 | 2 |
| 7-73025975-A-G | c.401-3973T>C | - | IntronicSNV | - | 2/16 | 1 |
| 7-73026151-A-T | c.401-4149T>A | - | IntronicSNV | - | 2/16 | 3 |
| 7-73026378-C-A | c.400+4023G>T | - | IntronicSNV | - | 2/16 | 28 |
| 7-73026378-C-T | c.400+4023G>A | - | IntronicSNV | - | 2/16 | 28 |
| 7-73027450-C-A | c.400+2951G>T | - | IntronicSNV | - | 2/16 | 6 |
| 7-73027450-C-G | c.400+2951G>C | - | IntronicSNV | - | 2/16 | 6 |
| 7-73028759-C-T | c.400+1642G>A | - | IntronicSNV | - | 2/16 | 1 |
| 7-73029437-C-T | c.400+964G>A | - | IntronicSNV | - | 2/16 | 4 |
| 7-73030103-A-C | c.400+298T>G | - | IntronicSNV | - | 2/16 | 1 |
| 7-73030103-A-G | c.400+298T>C | - | IntronicSNV | - | 2/16 | 1 |
| 7-73030103-A-T | c.400+298T>A | - | IntronicSNV | - | 2/16 | 1 |
| 7-73030175-G-A | c.400+226C>T | - | IntronicSNV | - | 2/16 | 1 |
| 7-73030412-CA-GC | c.388_389delinsGC | p.Trp130Ala | Missense | 2/17 | - | 1 |
| 7-73030416-C-G | c.385G>C | p.Ala129Pro | Missense | 2/17 | - | 1 |
| 7-73030423-GAT-CAA | c.376_378delinsTTG | p.Ile126Leu | Missense | 2/17 | - | 1 |
| 7-73030494-A-C | c.307T>G | p.Ser103Ala | Missense | 2/17 | - | 1 |
| 7-73030530-G-A | c.294-23C>T | - | IntronicSNV | - | 1/16 | 1 |
| 7-73032265-G-C | c.294-1758C>G | - | IntronicSNV | - | 1/16 | 8 |
| 7-73032835-T-C | c.294-2328A>G | - | IntronicSNV | - | 1/16 | 5 |
| 7-73033559-G-A | c.294-3052C>T | - | IntronicSNV | - | 1/16 | 1 |
| 7-73034030-A-G | c.294-3523T>C | - | IntronicSNV | - | 1/16 | 1 |
| 7-73034929-C-A | c.293+3601G>T | - | IntronicSNV | - | 1/16 | 2 |
| 7-73034929-C-T | c.293+3601G>A | - | IntronicSNV | - | 1/16 | 2 |
| 7-73035857-T-C | c.293+2673A>G | - | IntronicSNV | - | 1/16 | 21 |
| 7-73037366-G-A | c.293+1164C>T | - | IntronicSNV | - | 1/16 | 5 |
| 7-73037956-A-G | c.293+574T>C | - | IntronicSNV | - | 1/16 | 7 |
| 7-73038539-AG-GC | c.283_284delinsGC | p.Leu95Ala | Missense | 1/17 | - | 1 |
| 7-73038551-T-G | c.272A>C | p.Glu91Ala | Missense | 1/17 | - | 1 |
| 7-73038554-AA-GC | c.268_269delinsGC | p.Phe90Ala | Missense | 1/17 | - | 1 |
| 7-73038566-AG-GC | c.256_257delinsGC | p.Leu86Ala | Missense | 1/17 | - | 2 |
| 7-73038570-T-C | c.253A>G | p.Thr85Ala | Missense | 1/17 | - | 1 |
| 7-73038650-TG-TT | c.172delinsA | p.His58Asn | Missense | 1/17 | - | 1 |
| 7-73038655-CGA-GAC | c.166_168delinsGTC | p.Ser56Val | Missense | 1/17 | - | 1 |
| 7-73038668-AA-GC | c.154_155delinsGC | p.Phe52Ala | Missense | 1/17 | - | 1 |
| 7-73038671-TG-GC | c.151_152delinsGC | p.His51Ala | Missense | 1/17 | - | 1 |
| 7-73038671-TG-TT | c.151delinsA | p.His51Asn | Missense | 1/17 | - | 1 |
| 7-73038677-CT-TT | c.146delinsA | p.Ser49Asn | Missense | 1/17 | - | 1 |