Nucleotide changea | Amino acid changeb | Start position (GRCh37.p13 Primary Assembly) | Mutation frequency | Bioinformatics analysis results | |||||
---|---|---|---|---|---|---|---|---|---|
1000g2015aug_all | ExAC | esp6500siv2_all | SIFT | Polyphen-2 | LRT | MutationTaster | |||
151delG | A51fsX64: | Chr11; 64,359,179 | . | . | . | . | . | . | . |
G193 T | G65 W | Chr11; 64,359,221 | . | . | . | D | D | N | N |
T224C | I75T | Chr11; 64,359,252 | 0.0002 | 0.0002 | 0.0005 | D | D | N | N |
C233T | P78L | Chr11; 64,359,261 | . | 2.51*10−5 | . | D | D | D | D |
G269A | R90H | Chr11; 64,359,297 | . | 0.0002 | 7.70*10−5 | T | D | D | A |
G371 T | R124L | Chr11; 64,359,399 | . | . | . | T | P | N | N |
G412A | V138 M | Chr11; 64,360,260 | . | 6.59*10−5 | . | D | D | D | D |
G490A | G164S | Chr11; 64,360,338 | . | 0.0001 | . | D | D | N | N |
IVS2 + 1 G > A | Frameshift | Chr11; 64,360,355 | 0.0002 | 2.48*10−5 | . | . | . | . | D |
C650T | T217 M | Chr11; 64,361,020 | . | 3.31*10−5 | . | D | D | N | A |
G774A | W258X | Chr11; 64,361,219 | 0.000998 | 0.0003 | . | . | . | D | A |
C889T | Q297X | Chr11; 64,366,046 | . | . | . | . | . | N | A |
G894 T | E298D | Chr11; 64,366,051 | . | . | . | T | D | D | A |
937_999del (63 bp) | D313_P333del | Chr11; 64,366,094 | . | . | . | . | . | . | . |
C1039A | R347S | Chr11; 64,366,364 | 0.0002 | . | . | T | D | D | D |
G1082 T | G361 V | Chr11; 64,367,159 | . | . | . | T | D | D | A |
G1096C | G366R | Chr11; 64,367,173 | . | . | . | D | D | D | D |
A1145T | Q382L | Chr11; 64,367,222 | . | 6.72*10−5 | . | D | D | D | D |
G1162A | V388 M | Chr11; 64,367,239 | . | 0.0002 | 7.70*10−5 | T | D | N | N |
C1216T | R406C | Chr11; 64,367,293 | . | 4.23*10−5 | . | D | D | D | D |
1245_1253del | L415_G417del | Chr11; 64,367,322 | . | . | . | . | . | . | . |
T1253G | L418R | Chr11; 64,367,330 | . | 1.73*10−5 | . | D | D | N | A |
T1289C | M430 T | Chr11; 64,367,842 | . | . | . | T | P | N | D |
1289_1290insGG | M430fsX466 | Chr11; 64,367,842 | . | . | . | . | . | . | . |
C1300T | R434C | Chr11; 64,367,853 | . | 0.0002 | 7.70*10−5 | T | P | N | D |
G1301A | R434H | Chr11; 64,367,854 | 0.004593 | 0.0025 | 0.0049 | D | D | D | D |
G1330A | G444R | Chr11; 64,367,883 | . | 6.07*10−5 | . | T | D | N | N |
C1400T | T467 M | Chr11; 64,368,212 | 0.001797 | 0.0014 | 7.70*10−5 | T | D | N | N |
C1429A | R477S | Chr11; 64,368,241 | . | . | . | D | D | D | D |
G1430A | R477H | Chr11; 64,368,242 | . | 9.22*10−5 | . | D | D | D | D |
C1546A | P516T | Chr11; 64,368,358 | . | . | . | D | D | D | D |
1639_1643del | Frameshift | Chr11; 64,369,000 | . | . | . | . | . | . | . |