Mutation type | Nucleotide change | Amino acid change | Exon no. | Reference | Allele frequency | Ethnicity |
---|---|---|---|---|---|---|
Missense | c.992A > G | p.Tyr331Cys | 9 | This study | 0.9% (1/120) | KOR |
Missense | c.1001G > T | p.Arg334Leu | 9 | [15] | 0.9% (1/120) | JPN |
Missense | c.1120 T > C | p.Phe374Leu | 10 | [15] | 6.7% (8/120) | JPN |
Missense | c.2866C > T | p.His956Tyr | 14 | [15] | 1.8% (2/120) | JPN |
Missense | c.3458A > G | p.Asn1153Ser | 19 | [15] | 0.9% (1/120) | JPN |
Nonsense | c.310C > T | p.Gln104* | 3 | 5.3% (6/120) | KOR, JPN | |
Nonsense | c.1071G > A | p.Trp357* | 9 | [16], This study | 2.7% (3/120) | KOR, CHN |
Nonsense | c.1090C > T | p.Arg364* | 9 | 5.9% (7/120) | KOR, CHN | |
Nonsense | c.2666 T > A | p.Leu889* | 13 | This study | 0.9% (1/120) | KOR |
Nonsense | c.2681G > A | p.Trp894* | 13 | 3.4% (4/120) | KOR, JPN | |
Nonsense | c.3091C > T | p.Arg1031* | 15 | [14] | 0.9% (1/120) | KOR |
Nonsense | c.3173C > G | p.Ser1058* | 16 | [13] | 0.9% (1/120) | KOR |
Nonsense | c.3565C > T | p.Arg1189* | 19 | 32.5% (39/120) | KOR, JPN, CHN | |
Frameshift | c.471_472delTT | p.Tyr158Serfs*8 | 5 | This study | 0.9% (1/120) | KOR |
Frameshift | c.914_915insA | p.Asp305fs | 8 | [15] | 0.9% (1/120) | JPN |
Frameshift | c.2089_2090insC | p.Leu697fs | 13 | [15] | 1.8% (2/120) | JPN |
Frameshift | c.2189delT | p.Leu730fs*7 | 13 | This study | 0.9% (1/120) | KOR |
Frameshift | c.2422delC | p.Leu808fs*19 | 13 | [24] | 0.9% (1/120) | CHN |
Frameshift | c.2427delC | p.Leu810fs | 13 | [15] | 0.9% (1/120) | JPN |
Frameshift | c.2544delA | p.Lys848fs | 13 | [15] | 1.8% (4/120) | JPN |
Frameshift | c.2574_2575delGA | p.Asn859Glnfs*2 | 13 | [13], This study | 2.5% (3/120) | KOR |
Frameshift | c.2693delA | p.Lys898fs | 13 | [15] | 0.9% (1/120) | JPN |
Frameshift | c.3310delG | p.Ala1104fs | 17 | [15] | 0.9% (1/120) | JPN |
Frameshift | c.3388_3389insC + c.3390C > T | p.Val1130fs | 18 | [15] | 0.9% (1/120) | JPN |
Frameshift | c.3428_3429insA | p.Asn1143fs | 18 | [15] | 0.9% (1/120) | JPN |
Frameshift | c.3456_3459dupCAAC | p.Ile1154Glnfs*3 | 19 | [14] | 0.9% (1/120) | KOR |
Frameshift | c.3474_3475delTA | p.His1158fs*15 | 19 | [13] | 0.9% (1/120) | KOR |
Frameshift | c.3741_3744delAGAA | p.Glu1248fs | 21 | [15] | 0.9% (1/120) | JPN |
Frameshift | duplication exon2 | Frameshift | 2 | [15] | 5.0% (6/120) | JPN |
Splicing | c.637-6 T > G | p.Thr213Phefs*11 | IVS6 | This study | 1.8% (2/120) | KOR |
Splicing | c.2715 + 1G > A | - | IVS13 | 7.5% (9/120) | KOR, JPN, CHN |