Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
1-183614855-C-T | c.-33+9219C>T | - | intron_variant | - | 1/18 | 1 |
1-183615776-G-A | c.-33+10140G>A | - | intron_variant | - | 1/18 | 1 |
1-183616687-G-A | c.-33+11051G>A | - | intron_variant | - | 1/18 | 1 |
1-183616884-C-T | c.-33+11248C>T | - | intron_variant | - | 1/18 | 8 |
1-183616926-T-C | c.-33+11290T>C | - | intron_variant | - | 1/18 | 9 |
1-183617094-G-A | c.-33+11458G>A | - | intron_variant | - | 1/18 | 1 |
1-183617105-A-G | c.-33+11469A>G | - | intron_variant | - | 1/18 | 7 |
1-183617311-T-A | c.-33+11675T>A | - | intron_variant | - | 1/18 | 2 |
1-183617413-T-C | c.-33+11777T>C | - | intron_variant | - | 1/18 | 1 |
1-183617693-G-A | c.-33+12057G>A | - | intron_variant | - | 1/18 | 4 |
1-183621477-A-G | c.-33+15841A>G | - | intron_variant | - | 1/18 | 1 |
1-183622545-A-G | c.-33+16909A>G | - | intron_variant | - | 1/18 | 1 |
1-183623731-C-T | c.-33+18095C>T | - | intron_variant | - | 1/18 | 1 |
1-183624306-A-C | c.-33+18670A>C | - | intron_variant | - | 1/18 | 1 |
1-183646886-A-C | c.-33+41250A>C | - | intron_variant | - | 1/18 | 1 |
1-183653559-G-C | c.-33+47923G>C | - | intron_variant | - | 1/18 | 1 |
1-183656278-T-C | c.-33+50642T>C | - | intron_variant | - | 1/18 | 1 |
1-183662429-T-C | c.-32-48832T>C | - | IntronicSNV | - | 1/18 | 2 |
1-183668132-A-G | c.-32-43129A>G | - | IntronicSNV | - | 1/18 | 1 |
1-183668132-A-T | c.-32-43129A>T | - | IntronicSNV | - | 1/18 | 1 |
1-183668577-T-A | c.-32-42684T>A | - | IntronicSNV | - | 1/18 | 1 |
1-183670529-A-G | c.-32-40732A>G | - | IntronicSNV | - | 1/18 | 1 |
1-183670529-A-T | c.-32-40732A>T | - | IntronicSNV | - | 1/18 | 1 |
1-183670577-A-G | c.-32-40684A>G | - | IntronicSNV | - | 1/18 | 1 |
1-183671821-C-T | c.-32-39440C>T | - | IntronicSNV | - | 1/18 | 1 |
1-183690467-G-A | c.-32-20794G>A | - | IntronicSNV | - | 1/18 | 1 |
1-183711344-CT-GC | c.52_53delinsGC | p.Leu18Ala | Missense | 2/19 | - | 1 |
1-183711383-G-A | c.91G>A | p.Glu31Lys | Missense | 2/19 | - | 1 |
1-183711404-GA-AG | c.112_113delinsAG | p.Glu38Arg | Missense | 2/19 | - | 1 |
1-183713321-A-G | c.132+1897A>G | - | IntronicSNV | - | 2/18 | 1 |
1-183715357-G-T | c.132+3933G>T | - | IntronicSNV | - | 2/18 | 1 |
1-183740750-C-T | c.132+29326C>T | - | IntronicSNV | - | 2/18 | 1 |
1-183743599-C-A | c.133-31910C>A | - | IntronicSNV | - | 2/18 | 1 |
1-183762403-G-A | c.133-13106G>A | - | IntronicSNV | - | 2/18 | 1 |
1-183765059-C-T | c.133-10450C>T | - | IntronicSNV | - | 2/18 | 1 |
1-183765806-T-C | c.133-9703T>C | - | IntronicSNV | - | 2/18 | 1 |
1-183775521-G-A | c.145G>A | p.Asp49Asn | Missense | 3/19 | - | 1 |
1-183775523-C-A | c.147C>A | p.Asp49Glu | Missense | 3/19 | - | 1 |
1-183775523-C-G | c.147C>G | p.Asp49Glu | Missense | 3/19 | - | 1 |
1-183775595-C-A | c.219C>A | p.Ala73Ala | Synonymous | 3/19 | - | 1 |
1-183775595-C-G | c.219C>G | p.Ala73Ala | Synonymous | 3/19 | - | 1 |
1-183775595-C-T | c.219C>T | p.Ala73Ala | Synonymous | 3/19 | - | 1 |
1-183788570-A-C | c.243+12951A>C | - | IntronicSNV | - | 3/18 | 1 |
1-183788570-A-G | c.243+12951A>G | - | IntronicSNV | - | 3/18 | 1 |
1-183793323-G-A | c.243+17704G>A | - | IntronicSNV | - | 3/18 | 3 |
1-183794263-G-T | c.243+18644G>T | - | IntronicSNV | - | 3/18 | 1 |
1-183797688-T-C | c.244-19012T>C | - | IntronicSNV | - | 3/18 | 2 |
1-183798877-A-G | c.244-17823A>G | - | IntronicSNV | - | 3/18 | 1 |
1-183809639-T-G | c.244-7061T>G | - | IntronicSNV | - | 3/18 | 1 |
1-183812807-G-A | c.244-3893G>A | - | IntronicSNV | - | 3/18 | 1 |
1-183812807-G-T | c.244-3893G>T | - | IntronicSNV | - | 3/18 | 1 |
1-183812898-A-G | c.244-3802A>G | - | IntronicSNV | - | 3/18 | 1 |
1-183813858-G-T | c.244-2842G>T | - | IntronicSNV | - | 3/18 | 1 |
1-183816683-G-T | c.244-17G>T | - | IntronicSNV | - | 3/18 | 1 |
1-183822695-T-C | c.452+5787T>C | - | IntronicSNV | - | 4/18 | 1 |
1-183824869-C-T | c.452+7961C>T | - | IntronicSNV | - | 4/18 | 1 |
1-183829737-T-C | c.453-5393T>C | - | IntronicSNV | - | 4/18 | 1 |
1-183835130-G-C | c.453G>C | p.Arg151Ser | Missense | 5/19 | - | 1 |
1-183835130-G-T | c.453G>T | p.Arg151Ser | Missense | 5/19 | - | 1 |
1-183837032-A-G | c.530+1825A>G | - | IntronicSNV | - | 5/18 | 1 |
1-183839648-C-T | c.530+4441C>T | - | IntronicSNV | - | 5/18 | 1 |
1-183843104-T-C | c.531-6646T>C | - | IntronicSNV | - | 5/18 | 1 |
1-183847284-T-A | c.531-2466T>A | - | IntronicSNV | - | 5/18 | 1 |
1-183849802-CG-AA | c.583_584delinsAA | p.Arg195Lys | Missense | 6/19 | - | 1 |
1-183849802-CGA-GAC | c.583_585delinsGAC | p.Arg195Asp | Missense | 6/19 | - | 1 |
1-183849802-CG-GC | c.583_584delinsGC | p.Arg195Ala | Missense | 6/19 | - | 1 |
1-183852914-G-C | c.716-6G>C | - | IntronicSNV | - | 6/18 | 3 |
1-183861007-G-A | c.1161-204G>A | - | IntronicSNV | - | 9/18 | 1 |
1-183866849-G-A | c.1246-93G>A | - | IntronicSNV | - | 10/18 | 2 |
1-183866849-G-T | c.1246-93G>T | - | IntronicSNV | - | 10/18 | 2 |
1-183881089-A-G | c.1668-127A>G | - | IntronicSNV | - | 15/18 | 1 |
1-183881089-A-T | c.1668-127A>T | - | IntronicSNV | - | 15/18 | 1 |
1-183881271-A-C | c.1723A>C | p.Lys575Gln | Missense | 16/19 | - | 1 |
1-183881272-A-G | c.1724A>G | p.Lys575Arg | Missense | 16/19 | - | 1 |
1-183885406-A-G | c.1855-175A>G | - | IntronicSNV | - | 16/18 | 1 |
1-183887032-C-A | c.2109+1197C>A | - | IntronicSNV | - | 17/18 | 1 |
1-183887032-C-T | c.2109+1197C>T | - | IntronicSNV | - | 17/18 | 1 |
1-183891392-AG-GC | c.2146_2147delinsGC | p.Arg716Ala | Missense | 18/19 | - | 1 |
1-183896961-T-A | c.*1535T>A | - | 3-UTRSNV | 19/19 | - | 3 |
1-183896961-T-C | c.*1535T>C | - | 3-UTRSNV | 19/19 | - | 3 |