| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.45910717_45910719del | CA299760493 | EPG5 | n.2195_2197del c.4011_4013del (p.Arg1338del) c.3751_3753del (n.3751_3753del) n.790_792del c.636_638del (p.Arg213del) n.4046_4048del c.4038_4040del (p.Arg1347del) c.3897_3899del (p.Arg1300del) c.2973_2975del (p.Arg992del) n.4111_4113del c.3870_3872del (p.Arg1291del) c.2946_2948del (p.Arg983del) n.4093_4095del | dbSNP |
| 18 | g.45910719C>A | CA402340279 | EPG5 | n.2191G>T c.4007G>T (p.Gly1336Val) c.3747G>T (n.3747G>T) n.786G>T c.632G>T (p.Gly211Val) n.4042G>T c.4034G>T (p.Gly1345Val) c.3893G>T (p.Gly1298Val) c.2969G>T (p.Gly990Val) n.4107G>T c.3866G>T (p.Gly1289Val) c.2942G>T (p.Gly981Val) n.4089G>T | |
| 18 | g.45910719C= | CA2300590927 | EPG5 | n.2191G= c.4007G= (p.Gly1336=) c.3747G= (n.3747G=) n.786G= c.632G= (p.Gly211=) n.4042G= c.4034G= (p.Gly1345=) c.3893G= (p.Gly1298=) c.2969G= (p.Gly990=) n.4107G= c.3866G= (p.Gly1289=) c.2942G= (p.Gly981=) n.4089G= | |
| 18 | g.45910719C>G | CA402340280 | EPG5 | n.2191G>C c.4007G>C (p.Gly1336Ala) c.3747G>C (n.3747G>C) n.786G>C c.632G>C (p.Gly211Ala) n.4042G>C c.4034G>C (p.Gly1345Ala) c.3893G>C (p.Gly1298Ala) c.2969G>C (p.Gly990Ala) n.4107G>C c.3866G>C (p.Gly1289Ala) c.2942G>C (p.Gly981Ala) n.4089G>C | |
| 18 | g.45910719C>T | CA402340281 | EPG5 | n.2191G>A c.4007G>A (p.Gly1336Glu) c.3747G>A (n.3747G>A) n.786G>A c.632G>A (p.Gly211Glu) n.4042G>A c.4034G>A (p.Gly1345Glu) c.3893G>A (p.Gly1298Glu) c.2969G>A (p.Gly990Glu) n.4107G>A c.3866G>A (p.Gly1289Glu) c.2942G>A (p.Gly981Glu) n.4089G>A | ClinVar dbSNP |
| 18 | g.45910720C>A | CA402340282 | EPG5 | n.2190G>T c.4006G>T (p.Gly1336Ter) c.3746G>T (n.3746G>T) n.785G>T c.631G>T (p.Gly211Ter) n.4041G>T c.4033G>T (p.Gly1345Ter) c.3892G>T (p.Gly1298Ter) c.2968G>T (p.Gly990Ter) n.4106G>T c.3865G>T (p.Gly1289Ter) c.2941G>T (p.Gly981Ter) n.4088G>T | |
| 18 | g.45910720C>G | CA402340283 | EPG5 | n.2190G>C c.4006G>C (p.Gly1336Arg) c.3746G>C (n.3746G>C) n.785G>C c.631G>C (p.Gly211Arg) n.4041G>C c.4033G>C (p.Gly1345Arg) c.3892G>C (p.Gly1298Arg) c.2968G>C (p.Gly990Arg) n.4106G>C c.3865G>C (p.Gly1289Arg) c.2941G>C (p.Gly981Arg) n.4088G>C | |
| 18 | g.45910720C>T | CA402340284 | EPG5 | n.2190G>A c.4006G>A (p.Gly1336Arg) c.3746G>A (n.3746G>A) n.785G>A c.631G>A (p.Gly211Arg) n.4041G>A c.4033G>A (p.Gly1345Arg) c.3892G>A (p.Gly1298Arg) c.2968G>A (p.Gly990Arg) n.4106G>A c.3865G>A (p.Gly1289Arg) c.2941G>A (p.Gly981Arg) n.4088G>A | |
| 18 | g.45910721A= | CA2300590928 | EPG5 | n.2189T= c.4005T= (p.Ile1335=) c.3745T= (n.3745T=) n.784T= c.630T= (p.Ile210=) n.4040T= c.4032T= (p.Ile1344=) c.3891T= (p.Ile1297=) c.2967T= (p.Ile989=) n.4105T= c.3864T= (p.Ile1288=) c.2940T= (p.Ile980=) n.4087T= | |
| 18 | g.45910721A>C | CA402340285 | EPG5 | n.2189T>G c.4005T>G (p.Ile1335Met) c.3745T>G (n.3745T>G) n.784T>G c.630T>G (p.Ile210Met) n.4040T>G c.4032T>G (p.Ile1344Met) c.3891T>G (p.Ile1297Met) c.2967T>G (p.Ile989Met) n.4105T>G c.3864T>G (p.Ile1288Met) c.2940T>G (p.Ile980Met) n.4087T>G | |
| 18 | g.45910721A>G | CA503793875 | EPG5 | n.2189T>C c.4005T>C (p.Ile1335=) c.3745T>C (n.3745T>C) n.784T>C c.630T>C (p.Ile210=) n.4040T>C c.4032T>C (p.Ile1344=) c.3891T>C (p.Ile1297=) c.2967T>C (p.Ile989=) n.4105T>C c.3864T>C (p.Ile1288=) c.2940T>C (p.Ile980=) n.4087T>C | ClinVar dbSNP gnomAD v2 |
| 18 | g.45910721A>T | CA503793876 | EPG5 | n.2189T>A c.4005T>A (p.Ile1335=) c.3745T>A (n.3745T>A) n.784T>A c.630T>A (p.Ile210=) n.4040T>A c.4032T>A (p.Ile1344=) c.3891T>A (p.Ile1297=) c.2967T>A (p.Ile989=) n.4105T>A c.3864T>A (p.Ile1288=) c.2940T>A (p.Ile980=) n.4087T>A | |
| 18 | g.45910722A= | CA2300590929 | EPG5 | n.2188T= c.4004T= (p.Ile1335=) c.3744T= (n.3744T=) n.783T= c.629T= (p.Ile210=) n.4039T= c.4031T= (p.Ile1344=) c.3890T= (p.Ile1297=) c.2966T= (p.Ile989=) n.4104T= c.3863T= (p.Ile1288=) c.2939T= (p.Ile980=) n.4086T= | |
| 18 | g.45910722A>C | CA402340286 | EPG5 | n.2188T>G c.4004T>G (p.Ile1335Ser) c.3744T>G (n.3744T>G) n.783T>G c.629T>G (p.Ile210Ser) n.4039T>G c.4031T>G (p.Ile1344Ser) c.3890T>G (p.Ile1297Ser) c.2966T>G (p.Ile989Ser) n.4104T>G c.3863T>G (p.Ile1288Ser) c.2939T>G (p.Ile980Ser) n.4086T>G | |
| 18 | g.45910722A>G | CA402340287 | EPG5 | n.2188T>C c.4004T>C (p.Ile1335Thr) c.3744T>C (n.3744T>C) n.783T>C c.629T>C (p.Ile210Thr) n.4039T>C c.4031T>C (p.Ile1344Thr) c.3890T>C (p.Ile1297Thr) c.2966T>C (p.Ile989Thr) n.4104T>C c.3863T>C (p.Ile1288Thr) c.2939T>C (p.Ile980Thr) n.4086T>C | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.45910722A>T | CA402340288 | EPG5 | n.2188T>A c.4004T>A (p.Ile1335Asn) c.3744T>A (n.3744T>A) n.783T>A c.629T>A (p.Ile210Asn) n.4039T>A c.4031T>A (p.Ile1344Asn) c.3890T>A (p.Ile1297Asn) c.2966T>A (p.Ile989Asn) n.4104T>A c.3863T>A (p.Ile1288Asn) c.2939T>A (p.Ile980Asn) n.4086T>A | |
| 18 | g.45910723T>A | CA402340289 | EPG5 | n.2187A>T c.4003A>T (p.Ile1335Phe) c.3743A>T (n.3743A>T) n.782A>T c.628A>T (p.Ile210Phe) n.4038A>T c.4030A>T (p.Ile1344Phe) c.3889A>T (p.Ile1297Phe) c.2965A>T (p.Ile989Phe) n.4103A>T c.3862A>T (p.Ile1288Phe) c.2938A>T (p.Ile980Phe) n.4085A>T | |
| 18 | g.45910723T>C | CA402340291 | EPG5 | n.2187A>G c.4003A>G (p.Ile1335Val) c.3743A>G (n.3743A>G) n.782A>G c.628A>G (p.Ile210Val) n.4038A>G c.4030A>G (p.Ile1344Val) c.3889A>G (p.Ile1297Val) c.2965A>G (p.Ile989Val) n.4103A>G c.3862A>G (p.Ile1288Val) c.2938A>G (p.Ile980Val) n.4085A>G | gnomAD v4 |
| 18 | g.45910723T>G | CA402340290 | EPG5 | n.2187A>C c.4003A>C (p.Ile1335Leu) c.3743A>C (n.3743A>C) n.782A>C c.628A>C (p.Ile210Leu) n.4038A>C c.4030A>C (p.Ile1344Leu) c.3889A>C (p.Ile1297Leu) c.2965A>C (p.Ile989Leu) n.4103A>C c.3862A>C (p.Ile1288Leu) c.2938A>C (p.Ile980Leu) n.4085A>C | |
| 18 | g.45910724A>C | CA402340292 | EPG5 | n.2186T>G c.4002T>G (p.Cys1334Trp) c.3742T>G (n.3742T>G) n.781T>G c.627T>G (p.Cys209Trp) n.4037T>G c.4029T>G (p.Cys1343Trp) c.3888T>G (p.Cys1296Trp) c.2964T>G (p.Cys988Trp) n.4102T>G c.3861T>G (p.Cys1287Trp) c.2937T>G (p.Cys979Trp) n.4084T>G | |
| 18 | g.45910724A>G | CA503793878 | EPG5 | n.2186T>C c.4002T>C (p.Cys1334=) c.3742T>C (n.3742T>C) n.781T>C c.627T>C (p.Cys209=) n.4037T>C c.4029T>C (p.Cys1343=) c.3888T>C (p.Cys1296=) c.2964T>C (p.Cys988=) n.4102T>C c.3861T>C (p.Cys1287=) c.2937T>C (p.Cys979=) n.4084T>C | gnomAD v4 |
| 18 | g.45910724A>T | CA402340293 | EPG5 | n.2186T>A c.4002T>A (p.Cys1334Ter) c.3742T>A (n.3742T>A) n.781T>A c.627T>A (p.Cys209Ter) n.4037T>A c.4029T>A (p.Cys1343Ter) c.3888T>A (p.Cys1296Ter) c.2964T>A (p.Cys988Ter) n.4102T>A c.3861T>A (p.Cys1287Ter) c.2937T>A (p.Cys979Ter) n.4084T>A | |
| 18 | g.45910725C>A | CA402340294 | EPG5 | n.2185G>T c.4001G>T (p.Cys1334Phe) c.3741G>T (n.3741G>T) n.780G>T c.626G>T (p.Cys209Phe) n.4036G>T c.4028G>T (p.Cys1343Phe) c.3887G>T (p.Cys1296Phe) c.2963G>T (p.Cys988Phe) n.4101G>T c.3860G>T (p.Cys1287Phe) c.2936G>T (p.Cys979Phe) n.4083G>T | |
| 18 | g.45910725C= | CA2300590930 | EPG5 | n.2185G= c.4001G= (p.Cys1334=) c.3741G= (n.3741G=) n.780G= c.626G= (p.Cys209=) n.4036G= c.4028G= (p.Cys1343=) c.3887G= (p.Cys1296=) c.2963G= (p.Cys988=) n.4101G= c.3860G= (p.Cys1287=) c.2936G= (p.Cys979=) n.4083G= | |
| 18 | g.45910725C>G | CA299760495 | EPG5 | n.2185G>C c.4001G>C (p.Cys1334Ser) c.3741G>C (n.3741G>C) n.780G>C c.626G>C (p.Cys209Ser) n.4036G>C c.4028G>C (p.Cys1343Ser) c.3887G>C (p.Cys1296Ser) c.2963G>C (p.Cys988Ser) n.4101G>C c.3860G>C (p.Cys1287Ser) c.2936G>C (p.Cys979Ser) n.4083G>C | ClinVar dbSNP gnomAD v4 |
| 18 | g.45910725C>T | CA402340295 | EPG5 | n.2185G>A c.4001G>A (p.Cys1334Tyr) c.3741G>A (n.3741G>A) n.780G>A c.626G>A (p.Cys209Tyr) n.4036G>A c.4028G>A (p.Cys1343Tyr) c.3887G>A (p.Cys1296Tyr) c.2963G>A (p.Cys988Tyr) n.4101G>A c.3860G>A (p.Cys1287Tyr) c.2936G>A (p.Cys979Tyr) n.4083G>A | gnomAD v4 |
| 18 | g.45910726A>C | CA402340296 | EPG5 | n.2184T>G c.4000T>G (p.Cys1334Gly) c.3740T>G (n.3740T>G) n.779T>G c.625T>G (p.Cys209Gly) n.4035T>G c.4027T>G (p.Cys1343Gly) c.3886T>G (p.Cys1296Gly) c.2962T>G (p.Cys988Gly) n.4100T>G c.3859T>G (p.Cys1287Gly) c.2935T>G (p.Cys979Gly) n.4082T>G | gnomAD v4 |
| 18 | g.45910726A>G | CA402340297 | EPG5 | n.2184T>C c.4000T>C (p.Cys1334Arg) c.3740T>C (n.3740T>C) n.779T>C c.625T>C (p.Cys209Arg) n.4035T>C c.4027T>C (p.Cys1343Arg) c.3886T>C (p.Cys1296Arg) c.2962T>C (p.Cys988Arg) n.4100T>C c.3859T>C (p.Cys1287Arg) c.2935T>C (p.Cys979Arg) n.4082T>C | |
| 18 | g.45910726A>T | CA402340298 | EPG5 | n.2184T>A c.4000T>A (p.Cys1334Ser) c.3740T>A (n.3740T>A) n.779T>A c.625T>A (p.Cys209Ser) n.4035T>A c.4027T>A (p.Cys1343Ser) c.3886T>A (p.Cys1296Ser) c.2962T>A (p.Cys988Ser) n.4100T>A c.3859T>A (p.Cys1287Ser) c.2935T>A (p.Cys979Ser) n.4082T>A | |
| 18 | g.45910727A= | CA2300590931 | EPG5 | n.2183T= c.3999T= (p.Gly1333=) c.3739T= (n.3739T=) n.778T= c.624T= (p.Gly208=) n.4034T= c.4026T= (p.Gly1342=) c.3885T= (p.Gly1295=) c.2961T= (p.Gly987=) n.4099T= c.3858T= (p.Gly1286=) c.2934T= (p.Gly978=) n.4081T= | |
| 18 | g.45910727A>C | CA8949002 | EPG5 | n.2183T>G c.3999T>G (p.Gly1333=) c.3739T>G (n.3739T>G) n.778T>G c.624T>G (p.Gly208=) n.4034T>G c.4026T>G (p.Gly1342=) c.3885T>G (p.Gly1295=) c.2961T>G (p.Gly987=) n.4099T>G c.3858T>G (p.Gly1286=) c.2934T>G (p.Gly978=) n.4081T>G | dbSNP ExAC gnomAD v2 |
| 18 | g.45910727A>G | CA503793886 | EPG5 | n.2183T>C c.3999T>C (p.Gly1333=) c.3739T>C (n.3739T>C) n.778T>C c.624T>C (p.Gly208=) n.4034T>C c.4026T>C (p.Gly1342=) c.3885T>C (p.Gly1295=) c.2961T>C (p.Gly987=) n.4099T>C c.3858T>C (p.Gly1286=) c.2934T>C (p.Gly978=) n.4081T>C | ClinVar dbSNP gnomAD v4 |
| 18 | g.45910727A>T | CA503793885 | EPG5 | n.2183T>A c.3999T>A (p.Gly1333=) c.3739T>A (n.3739T>A) n.778T>A c.624T>A (p.Gly208=) n.4034T>A c.4026T>A (p.Gly1342=) c.3885T>A (p.Gly1295=) c.2961T>A (p.Gly987=) n.4099T>A c.3858T>A (p.Gly1286=) c.2934T>A (p.Gly978=) n.4081T>A | |
| 18 | g.45910728C>A | CA402340299 | EPG5 | n.2182G>T c.3998G>T (p.Gly1333Val) c.3738G>T (n.3738G>T) n.777G>T c.623G>T (p.Gly208Val) n.4033G>T c.4025G>T (p.Gly1342Val) c.3884G>T (p.Gly1295Val) c.2960G>T (p.Gly987Val) n.4098G>T c.3857G>T (p.Gly1286Val) c.2933G>T (p.Gly978Val) n.4080G>T | COSMIC |
| 18 | g.45910728C= | CA2300590932 | EPG5 | n.2182G= c.3998G= (p.Gly1333=) c.3738G= (n.3738G=) n.777G= c.623G= (p.Gly208=) n.4033G= c.4025G= (p.Gly1342=) c.3884G= (p.Gly1295=) c.2960G= (p.Gly987=) n.4098G= c.3857G= (p.Gly1286=) c.2933G= (p.Gly978=) n.4080G= | |
| 18 | g.45910728C>G | CA402340300 | EPG5 | n.2182G>C c.3998G>C (p.Gly1333Ala) c.3738G>C (n.3738G>C) n.777G>C c.623G>C (p.Gly208Ala) n.4033G>C c.4025G>C (p.Gly1342Ala) c.3884G>C (p.Gly1295Ala) c.2960G>C (p.Gly987Ala) n.4098G>C c.3857G>C (p.Gly1286Ala) c.2933G>C (p.Gly978Ala) n.4080G>C | |
| 18 | g.45910728C>T | CA402340301 | EPG5 | n.2182G>A c.3998G>A (p.Gly1333Asp) c.3738G>A (n.3738G>A) n.777G>A c.623G>A (p.Gly208Asp) n.4033G>A c.4025G>A (p.Gly1342Asp) c.3884G>A (p.Gly1295Asp) c.2960G>A (p.Gly987Asp) n.4098G>A c.3857G>A (p.Gly1286Asp) c.2933G>A (p.Gly978Asp) n.4080G>A | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.45910729C>A | CA402340302 | EPG5 | n.2181G>T c.3997G>T (p.Gly1333Cys) c.3737G>T (n.3737G>T) n.776G>T c.622G>T (p.Gly208Cys) n.4032G>T c.4024G>T (p.Gly1342Cys) c.3883G>T (p.Gly1295Cys) c.2959G>T (p.Gly987Cys) n.4097G>T c.3856G>T (p.Gly1286Cys) c.2932G>T (p.Gly978Cys) n.4079G>T | |
| 18 | g.45910729C>G | CA402340303 | EPG5 | n.2181G>C c.3997G>C (p.Gly1333Arg) c.3737G>C (n.3737G>C) n.776G>C c.622G>C (p.Gly208Arg) n.4032G>C c.4024G>C (p.Gly1342Arg) c.3883G>C (p.Gly1295Arg) c.2959G>C (p.Gly987Arg) n.4097G>C c.3856G>C (p.Gly1286Arg) c.2932G>C (p.Gly978Arg) n.4079G>C | |
| 18 | g.45910729C>T | CA402340304 | EPG5 | n.2181G>A c.3997G>A (p.Gly1333Ser) c.3737G>A (n.3737G>A) n.776G>A c.622G>A (p.Gly208Ser) n.4032G>A c.4024G>A (p.Gly1342Ser) c.3883G>A (p.Gly1295Ser) c.2959G>A (p.Gly987Ser) n.4097G>A c.3856G>A (p.Gly1286Ser) c.2932G>A (p.Gly978Ser) n.4079G>A | |
| 18 | g.45910730A>C | CA402340305 | EPG5 | n.2180T>G c.3996T>G (p.Asp1332Glu) c.3736T>G (n.3736T>G) n.775T>G c.621T>G (p.Asp207Glu) n.4031T>G c.4023T>G (p.Asp1341Glu) c.3882T>G (p.Asp1294Glu) c.2958T>G (p.Asp986Glu) n.4096T>G c.3855T>G (p.Asp1285Glu) c.2931T>G (p.Asp977Glu) n.4078T>G | |
| 18 | g.45910730A>G | CA503793890 | EPG5 | n.2180T>C c.3996T>C (p.Asp1332=) c.3736T>C (n.3736T>C) n.775T>C c.621T>C (p.Asp207=) n.4031T>C c.4023T>C (p.Asp1341=) c.3882T>C (p.Asp1294=) c.2958T>C (p.Asp986=) n.4096T>C c.3855T>C (p.Asp1285=) c.2931T>C (p.Asp977=) n.4078T>C | |
| 18 | g.45910730A>T | CA402340306 | EPG5 | n.2180T>A c.3996T>A (p.Asp1332Glu) c.3736T>A (n.3736T>A) n.775T>A c.621T>A (p.Asp207Glu) n.4031T>A c.4023T>A (p.Asp1341Glu) c.3882T>A (p.Asp1294Glu) c.2958T>A (p.Asp986Glu) n.4096T>A c.3855T>A (p.Asp1285Glu) c.2931T>A (p.Asp977Glu) n.4078T>A | gnomAD v4 |
| 18 | g.45910731T>A | CA402340309 | EPG5 | n.2179A>T c.3995A>T (p.Asp1332Val) c.3735A>T (n.3735A>T) n.774A>T c.620A>T (p.Asp207Val) n.4030A>T c.4022A>T (p.Asp1341Val) c.3881A>T (p.Asp1294Val) c.2957A>T (p.Asp986Val) n.4095A>T c.3854A>T (p.Asp1285Val) c.2930A>T (p.Asp977Val) n.4077A>T | |
| 18 | g.45910731T>C | CA402340307 | EPG5 | n.2179A>G c.3995A>G (p.Asp1332Gly) c.3735A>G (n.3735A>G) n.774A>G c.620A>G (p.Asp207Gly) n.4030A>G c.4022A>G (p.Asp1341Gly) c.3881A>G (p.Asp1294Gly) c.2957A>G (p.Asp986Gly) n.4095A>G c.3854A>G (p.Asp1285Gly) c.2930A>G (p.Asp977Gly) n.4077A>G | |
| 18 | g.45910731T>G | CA402340308 | EPG5 | n.2179A>C c.3995A>C (p.Asp1332Ala) c.3735A>C (n.3735A>C) n.774A>C c.620A>C (p.Asp207Ala) n.4030A>C c.4022A>C (p.Asp1341Ala) c.3881A>C (p.Asp1294Ala) c.2957A>C (p.Asp986Ala) n.4095A>C c.3854A>C (p.Asp1285Ala) c.2930A>C (p.Asp977Ala) n.4077A>C | |
| 18 | g.45910732C>A | CA402340310 | EPG5 | n.2178G>T c.3994G>T (p.Asp1332Tyr) c.3734G>T (n.3734G>T) n.773G>T c.619G>T (p.Asp207Tyr) n.4029G>T c.4021G>T (p.Asp1341Tyr) c.3880G>T (p.Asp1294Tyr) c.2956G>T (p.Asp986Tyr) n.4094G>T c.3853G>T (p.Asp1285Tyr) c.2929G>T (p.Asp977Tyr) n.4076G>T | |
| 18 | g.45910732C>G | CA402340311 | EPG5 | n.2178G>C c.3994G>C (p.Asp1332His) c.3734G>C (n.3734G>C) n.773G>C c.619G>C (p.Asp207His) n.4029G>C c.4021G>C (p.Asp1341His) c.3880G>C (p.Asp1294His) c.2956G>C (p.Asp986His) n.4094G>C c.3853G>C (p.Asp1285His) c.2929G>C (p.Asp977His) n.4076G>C | |
| 18 | g.45910732C>T | CA402340312 | EPG5 | n.2178G>A c.3994G>A (p.Asp1332Asn) c.3734G>A (n.3734G>A) n.773G>A c.619G>A (p.Asp207Asn) n.4029G>A c.4021G>A (p.Asp1341Asn) c.3880G>A (p.Asp1294Asn) c.2956G>A (p.Asp986Asn) n.4094G>A c.3853G>A (p.Asp1285Asn) c.2929G>A (p.Asp977Asn) n.4076G>A | ClinVar |
| 18 | g.45910733T>A | CA503793894 | EPG5 | n.2177A>T c.3993A>T (p.Ile1331=) c.3733A>T (n.3733A>T) n.772A>T c.618A>T (p.Ile206=) n.4028A>T c.4020A>T (p.Ile1340=) c.3879A>T (p.Ile1293=) c.2955A>T (p.Ile985=) n.4093A>T c.3852A>T (p.Ile1284=) c.2928A>T (p.Ile976=) n.4075A>T |