Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.44953178G>A | CA8945999 | SETBP1 | c.3838G>A (p.Val1280Met) c.3916G>A (p.Val1306Met) c.3361G>A (p.Val1121Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953178G>C | CA402325291 | SETBP1 | c.3838G>C (p.Val1280Leu) c.3916G>C (p.Val1306Leu) c.3361G>C (p.Val1121Leu) | |
18 | g.44953178G= | CA2300141298 | SETBP1 | c.3838G= (p.Val1280=) c.3916G= (p.Val1306=) c.3361G= (p.Val1121=) | |
18 | g.44953178G>T | CA8946000 | SETBP1 | c.3838G>T (p.Val1280Leu) c.3916G>T (p.Val1306Leu) c.3361G>T (p.Val1121Leu) | dbSNP ExAC gnomAD v4 COSMIC |
18 | g.44953179T>A | CA402325292 | SETBP1 | c.3839T>A (p.Val1280Glu) c.3917T>A (p.Val1306Glu) c.3362T>A (p.Val1121Glu) | gnomAD v4 |
18 | g.44953179T>C | CA402325293 | SETBP1 | c.3839T>C (p.Val1280Ala) c.3917T>C (p.Val1306Ala) c.3362T>C (p.Val1121Ala) | |
18 | g.44953179T>G | CA402325294 | SETBP1 | c.3839T>G (p.Val1280Gly) c.3917T>G (p.Val1306Gly) c.3362T>G (p.Val1121Gly) | |
18 | g.44953180G>A | CA503982816 | SETBP1 | c.3840G>A (p.Val1280=) c.3918G>A (p.Val1306=) c.3363G>A (p.Val1121=) | |
18 | g.44953180G>C | CA503982814 | SETBP1 | c.3840G>C (p.Val1280=) c.3918G>C (p.Val1306=) c.3363G>C (p.Val1121=) | |
18 | g.44953180G>T | CA503982812 | SETBP1 | c.3840G>T (p.Val1280=) c.3918G>T (p.Val1306=) c.3363G>T (p.Val1121=) | |
18 | g.44953181T>A | CA402325296 | SETBP1 | c.3841T>A (p.Phe1281Ile) c.3919T>A (p.Phe1307Ile) c.3364T>A (p.Phe1122Ile) | |
18 | g.44953181T>C | CA402325297 | SETBP1 | c.3841T>C (p.Phe1281Leu) c.3919T>C (p.Phe1307Leu) c.3364T>C (p.Phe1122Leu) | |
18 | g.44953181T>G | CA402325295 | SETBP1 | c.3841T>G (p.Phe1281Val) c.3919T>G (p.Phe1307Val) c.3364T>G (p.Phe1122Val) | gnomAD v4 |
18 | g.44953182T>A | CA402325298 | SETBP1 | c.3842T>A (p.Phe1281Tyr) c.3920T>A (p.Phe1307Tyr) c.3365T>A (p.Phe1122Tyr) | |
18 | g.44953182T>C | CA402325299 | SETBP1 | c.3842T>C (p.Phe1281Ser) c.3920T>C (p.Phe1307Ser) c.3365T>C (p.Phe1122Ser) | |
18 | g.44953182T>G | CA402325300 | SETBP1 | c.3842T>G (p.Phe1281Cys) c.3920T>G (p.Phe1307Cys) c.3365T>G (p.Phe1122Cys) | |
18 | g.44953183C>A | CA402325301 | SETBP1 | c.3843C>A (p.Phe1281Leu) c.3921C>A (p.Phe1307Leu) c.3366C>A (p.Phe1122Leu) | |
18 | g.44953183C>G | CA402325302 | SETBP1 | c.3843C>G (p.Phe1281Leu) c.3921C>G (p.Phe1307Leu) c.3366C>G (p.Phe1122Leu) | |
18 | g.44953183C>T | CA503982822 | SETBP1 | c.3843C>T (p.Phe1281=) c.3921C>T (p.Phe1307=) c.3366C>T (p.Phe1122=) | |
18 | g.44953184A>C | CA402325305 | SETBP1 | c.3844A>C (p.Ser1282Arg) c.3922A>C (p.Ser1308Arg) c.3367A>C (p.Ser1123Arg) | |
18 | g.44953184A>G | CA402325303 | SETBP1 | c.3844A>G (p.Ser1282Gly) c.3922A>G (p.Ser1308Gly) c.3367A>G (p.Ser1123Gly) | gnomAD v4 |
18 | g.44953184A>T | CA402325304 | SETBP1 | c.3844A>T (p.Ser1282Cys) c.3922A>T (p.Ser1308Cys) c.3367A>T (p.Ser1123Cys) | |
18 | g.44953185G>A | CA402325306 | SETBP1 | c.3845G>A (p.Ser1282Asn) c.3923G>A (p.Ser1308Asn) c.3368G>A (p.Ser1123Asn) | |
18 | g.44953185G>C | CA402325307 | SETBP1 | c.3845G>C (p.Ser1282Thr) c.3923G>C (p.Ser1308Thr) c.3368G>C (p.Ser1123Thr) | |
18 | g.44953185G>T | CA402325308 | SETBP1 | c.3845G>T (p.Ser1282Ile) c.3923G>T (p.Ser1308Ile) c.3368G>T (p.Ser1123Ile) | |
18 | g.44953186T>A | CA8946001 | SETBP1 | c.3846T>A (p.Ser1282Arg) c.3924T>A (p.Ser1308Arg) c.3369T>A (p.Ser1123Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.44953186T>C | CA503982832 | SETBP1 | c.3846T>C (p.Ser1282=) c.3924T>C (p.Ser1308=) c.3369T>C (p.Ser1123=) | |
18 | g.44953186T>G | CA402325309 | SETBP1 | c.3846T>G (p.Ser1282Arg) c.3924T>G (p.Ser1308Arg) c.3369T>G (p.Ser1123Arg) | |
18 | g.44953186T= | CA2300141299 | SETBP1 | c.3846T= (p.Ser1282=) c.3924T= (p.Ser1308=) c.3369T= (p.Ser1123=) | |
18 | g.44953187G>A | CA402325311 | SETBP1 | c.3847G>A (p.Glu1283Lys) c.3925G>A (p.Glu1309Lys) c.3370G>A (p.Glu1124Lys) | |
18 | g.44953187G>C | CA8946002 | SETBP1 | c.3847G>C (p.Glu1283Gln) c.3925G>C (p.Glu1309Gln) c.3370G>C (p.Glu1124Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953187G= | CA2300141300 | SETBP1 | c.3847G= (p.Glu1283=) c.3925G= (p.Glu1309=) c.3370G= (p.Glu1124=) | |
18 | g.44953187G>T | CA402325310 | SETBP1 | c.3847G>T (p.Glu1283Ter) c.3925G>T (p.Glu1309Ter) c.3370G>T (p.Glu1124Ter) | |
18 | g.44953188A= | CA2300141301 | SETBP1 | c.3848A= (p.Glu1283=) c.3926A= (p.Glu1309=) c.3371A= (p.Glu1124=) | |
18 | g.44953188A>C | CA402325312 | SETBP1 | c.3848A>C (p.Glu1283Ala) c.3926A>C (p.Glu1309Ala) c.3371A>C (p.Glu1124Ala) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.44953188A>G | CA402325314 | SETBP1 | c.3848A>G (p.Glu1283Gly) c.3926A>G (p.Glu1309Gly) c.3371A>G (p.Glu1124Gly) | |
18 | g.44953188A>T | CA402325313 | SETBP1 | c.3848A>T (p.Glu1283Val) c.3926A>T (p.Glu1309Val) c.3371A>T (p.Glu1124Val) | |
18 | g.44953189A>C | CA402325315 | SETBP1 | c.3849A>C (p.Glu1283Asp) c.3927A>C (p.Glu1309Asp) c.3372A>C (p.Glu1124Asp) | |
18 | g.44953189A>G | CA503982837 | SETBP1 | c.3849A>G (p.Glu1283=) c.3927A>G (p.Glu1309=) c.3372A>G (p.Glu1124=) | |
18 | g.44953189A>T | CA402325316 | SETBP1 | c.3849A>T (p.Glu1283Asp) c.3927A>T (p.Glu1309Asp) c.3372A>T (p.Glu1124Asp) | |
18 | g.44953190A>C | CA402325317 | SETBP1 | c.3850A>C (p.Met1284Leu) c.3928A>C (p.Met1310Leu) c.3373A>C (p.Met1125Leu) | |
18 | g.44953190A>G | CA402325319 | SETBP1 | c.3850A>G (p.Met1284Val) c.3928A>G (p.Met1310Val) c.3373A>G (p.Met1125Val) | |
18 | g.44953190A>T | CA402325318 | SETBP1 | c.3850A>T (p.Met1284Leu) c.3928A>T (p.Met1310Leu) c.3373A>T (p.Met1125Leu) | |
18 | g.44953191T>A | CA402325320 | SETBP1 | c.3851T>A (p.Met1284Lys) c.3929T>A (p.Met1310Lys) c.3374T>A (p.Met1125Lys) | |
18 | g.44953191T>C | CA402325321 | SETBP1 | c.3851T>C (p.Met1284Thr) c.3929T>C (p.Met1310Thr) c.3374T>C (p.Met1125Thr) | ClinVar dbSNP gnomAD v4 |
18 | g.44953191T>G | CA402325322 | SETBP1 | c.3851T>G (p.Met1284Arg) c.3929T>G (p.Met1310Arg) c.3374T>G (p.Met1125Arg) | |
18 | g.44953192G>A | CA402325323 | SETBP1 | c.3852G>A (p.Met1284Ile) c.3930G>A (p.Met1310Ile) c.3375G>A (p.Met1125Ile) | |
18 | g.44953192G>C | CA402325324 | SETBP1 | c.3852G>C (p.Met1284Ile) c.3930G>C (p.Met1310Ile) c.3375G>C (p.Met1125Ile) | |
18 | g.44953192G= | CA2300141302 | SETBP1 | c.3852G= (p.Met1284=) c.3930G= (p.Met1310=) c.3375G= (p.Met1125=) | |
18 | g.44953192G>T | CA8946003 | SETBP1 | c.3852G>T (p.Met1284Ile) c.3930G>T (p.Met1310Ile) c.3375G>T (p.Met1125Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.44953193A= | CA2300141303 | SETBP1 | c.3853A= (p.Asn1285=) c.3931A= (p.Asn1311=) c.3376A= (p.Asn1126=) | |
18 | g.44953193A>C | CA402325327 | SETBP1 | c.3853A>C (p.Asn1285His) c.3931A>C (p.Asn1311His) c.3376A>C (p.Asn1126His) | |
18 | g.44953193A>G | CA402325325 | SETBP1 | c.3853A>G (p.Asn1285Asp) c.3931A>G (p.Asn1311Asp) c.3376A>G (p.Asn1126Asp) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.44953193A>T | CA402325326 | SETBP1 | c.3853A>T (p.Asn1285Tyr) c.3931A>T (p.Asn1311Tyr) c.3376A>T (p.Asn1126Tyr) | |
18 | g.44953194A= | CA2300141304 | SETBP1 | c.3854A= (p.Asn1285=) c.3932A= (p.Asn1311=) c.3377A= (p.Asn1126=) | |
18 | g.44953194A>C | CA402325328 | SETBP1 | c.3854A>C (p.Asn1285Thr) c.3932A>C (p.Asn1311Thr) c.3377A>C (p.Asn1126Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953194A>G | CA402325329 | SETBP1 | c.3854A>G (p.Asn1285Ser) c.3932A>G (p.Asn1311Ser) c.3377A>G (p.Asn1126Ser) | gnomAD v4 |
18 | g.44953194A>T | CA402325330 | SETBP1 | c.3854A>T (p.Asn1285Ile) c.3932A>T (p.Asn1311Ile) c.3377A>T (p.Asn1126Ile) | |
18 | g.44953195C>A | CA402325331 | SETBP1 | c.3855C>A (p.Asn1285Lys) c.3933C>A (p.Asn1311Lys) c.3378C>A (p.Asn1126Lys) | |
18 | g.44953195C= | CA2300141305 | SETBP1 | c.3855C= (p.Asn1285=) c.3933C= (p.Asn1311=) c.3378C= (p.Asn1126=) | |
18 | g.44953195C>G | CA402325332 | SETBP1 | c.3855C>G (p.Asn1285Lys) c.3933C>G (p.Asn1311Lys) c.3378C>G (p.Asn1126Lys) | |
18 | g.44953195C>T | CA503982846 | SETBP1 | c.3855C>T (p.Asn1285=) c.3933C>T (p.Asn1311=) c.3378C>T (p.Asn1126=) | dbSNP gnomAD v4 |
18 | g.44953196C>A | CA402325333 | SETBP1 | c.3856C>A (p.Pro1286Thr) c.3934C>A (p.Pro1312Thr) c.3379C>A (p.Pro1127Thr) | |
18 | g.44953196C= | CA2300141306 | SETBP1 | c.3856C= (p.Pro1286=) c.3934C= (p.Pro1312=) c.3379C= (p.Pro1127=) | |
18 | g.44953196C>G | CA402325334 | SETBP1 | c.3856C>G (p.Pro1286Ala) c.3934C>G (p.Pro1312Ala) c.3379C>G (p.Pro1127Ala) | |
18 | g.44953196C>T | CA8946004 | SETBP1 | c.3856C>T (p.Pro1286Ser) c.3934C>T (p.Pro1312Ser) c.3379C>T (p.Pro1127Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
18 | g.44953197C>A | CA402325335 | SETBP1 | c.3857C>A (p.Pro1286His) c.3935C>A (p.Pro1312His) c.3380C>A (p.Pro1127His) | |
18 | g.44953197C>G | CA402325336 | SETBP1 | c.3857C>G (p.Pro1286Arg) c.3935C>G (p.Pro1312Arg) c.3380C>G (p.Pro1127Arg) | |
18 | g.44953197C>T | CA402325337 | SETBP1 | c.3857C>T (p.Pro1286Leu) c.3935C>T (p.Pro1312Leu) c.3380C>T (p.Pro1127Leu) | |
18 | g.44953198T>A | CA503982853 | SETBP1 | c.3858T>A (p.Pro1286=) c.3936T>A (p.Pro1312=) c.3381T>A (p.Pro1127=) | |
18 | g.44953198T>C | CA503982854 | SETBP1 | c.3858T>C (p.Pro1286=) c.3936T>C (p.Pro1312=) c.3381T>C (p.Pro1127=) | |
18 | g.44953198T>G | CA503982855 | SETBP1 | c.3858T>G (p.Pro1286=) c.3936T>G (p.Pro1312=) c.3381T>G (p.Pro1127=) | dbSNP |
18 | g.44953198T= | CA2300141307 | SETBP1 | c.3858T= (p.Pro1286=) c.3936T= (p.Pro1312=) c.3381T= (p.Pro1127=) | |
18 | g.44953199T>A | CA402325338 | SETBP1 | c.3859T>A (p.Ser1287Thr) c.3937T>A (p.Ser1313Thr) c.3382T>A (p.Ser1128Thr) | |
18 | g.44953199T>C | CA402325339 | SETBP1 | c.3859T>C (p.Ser1287Pro) c.3937T>C (p.Ser1313Pro) c.3382T>C (p.Ser1128Pro) | |
18 | g.44953199T>G | CA402325340 | SETBP1 | c.3859T>G (p.Ser1287Ala) c.3937T>G (p.Ser1313Ala) c.3382T>G (p.Ser1128Ala) | |
18 | g.44953200C>A | CA402325341 | SETBP1 | c.3860C>A (p.Ser1287Ter) c.3938C>A (p.Ser1313Ter) c.3383C>A (p.Ser1128Ter) | |
18 | g.44953200C= | CA2300141308 | SETBP1 | c.3860C= (p.Ser1287=) c.3938C= (p.Ser1313=) c.3383C= (p.Ser1128=) | |
18 | g.44953200C>G | CA402325342 | SETBP1 | c.3860C>G (p.Ser1287Trp) c.3938C>G (p.Ser1313Trp) c.3383C>G (p.Ser1128Trp) | |
18 | g.44953200C>T | CA8946005 | SETBP1 | c.3860C>T (p.Ser1287Leu) c.3938C>T (p.Ser1313Leu) c.3383C>T (p.Ser1128Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
18 | g.44953201G>A | CA8946006 | SETBP1 | c.3861G>A (p.Ser1287=) c.3939G>A (p.Ser1313=) c.3384G>A (p.Ser1128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953201G>C | CA503982859 | SETBP1 | c.3861G>C (p.Ser1287=) c.3939G>C (p.Ser1313=) c.3384G>C (p.Ser1128=) | |
18 | g.44953201G= | CA2300141309 | SETBP1 | c.3861G= (p.Ser1287=) c.3939G= (p.Ser1313=) c.3384G= (p.Ser1128=) | |
18 | g.44953201G>T | CA299699912 | SETBP1 | c.3861G>T (p.Ser1287=) c.3939G>T (p.Ser1313=) c.3384G>T (p.Ser1128=) | dbSNP gnomAD v4 |
18 | g.44953202A>C | CA402325343 | SETBP1 | c.3862A>C (p.Asn1288His) c.3940A>C (p.Asn1314His) c.3385A>C (p.Asn1129His) | |
18 | g.44953202A>G | CA402325345 | SETBP1 | c.3862A>G (p.Asn1288Asp) c.3940A>G (p.Asn1314Asp) c.3385A>G (p.Asn1129Asp) | |
18 | g.44953202A>T | CA402325344 | SETBP1 | c.3862A>T (p.Asn1288Tyr) c.3940A>T (p.Asn1314Tyr) c.3385A>T (p.Asn1129Tyr) | |
18 | g.44953203A= | CA2300141310 | SETBP1 | c.3863A= (p.Asn1288=) c.3941A= (p.Asn1314=) c.3386A= (p.Asn1129=) | |
18 | g.44953203A>C | CA402325346 | SETBP1 | c.3863A>C (p.Asn1288Thr) c.3941A>C (p.Asn1314Thr) c.3386A>C (p.Asn1129Thr) | |
18 | g.44953203A>G | CA402325347 | SETBP1 | c.3863A>G (p.Asn1288Ser) c.3941A>G (p.Asn1314Ser) c.3386A>G (p.Asn1129Ser) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.44953203A>T | CA402325348 | SETBP1 | c.3863A>T (p.Asn1288Ile) c.3941A>T (p.Asn1314Ile) c.3386A>T (p.Asn1129Ile) | |
18 | g.44953204T>A | CA402325349 | SETBP1 | c.3864T>A (p.Asn1288Lys) c.3942T>A (p.Asn1314Lys) c.3387T>A (p.Asn1129Lys) | |
18 | g.44953204T>C | CA503982869 | SETBP1 | c.3864T>C (p.Asn1288=) c.3942T>C (p.Asn1314=) c.3387T>C (p.Asn1129=) | |
18 | g.44953204T>G | CA402325350 | SETBP1 | c.3864T>G (p.Asn1288Lys) c.3942T>G (p.Asn1314Lys) c.3387T>G (p.Asn1129Lys) | |
18 | g.44953205G>A | CA402325351 | SETBP1 | c.3865G>A (p.Asp1289Asn) c.3943G>A (p.Asp1315Asn) c.3388G>A (p.Asp1130Asn) | |
18 | g.44953205G>C | CA402325352 | SETBP1 | c.3865G>C (p.Asp1289His) c.3943G>C (p.Asp1315His) c.3388G>C (p.Asp1130His) | |
18 | g.44953205G>T | CA402325353 | SETBP1 | c.3865G>T (p.Asp1289Tyr) c.3943G>T (p.Asp1315Tyr) c.3388G>T (p.Asp1130Tyr) | |
18 | g.44953206A>C | CA402325354 | SETBP1 | c.3866A>C (p.Asp1289Ala) c.3944A>C (p.Asp1315Ala) c.3389A>C (p.Asp1130Ala) | |
18 | g.44953206A>G | CA402325355 | SETBP1 | c.3866A>G (p.Asp1289Gly) c.3944A>G (p.Asp1315Gly) c.3389A>G (p.Asp1130Gly) | gnomAD v4 |
18 | g.44953206A>T | CA402325356 | SETBP1 | c.3866A>T (p.Asp1289Val) c.3944A>T (p.Asp1315Val) c.3389A>T (p.Asp1130Val) | ClinVar gnomAD v4 |
18 | g.44953207C>A | CA402325358 | SETBP1 | c.3867C>A (p.Asp1289Glu) c.3945C>A (p.Asp1315Glu) c.3390C>A (p.Asp1130Glu) | |
18 | g.44953207C= | CA2300141311 | SETBP1 | c.3867C= (p.Asp1289=) c.3945C= (p.Asp1315=) c.3390C= (p.Asp1130=) | |
18 | g.44953207C>G | CA402325357 | SETBP1 | c.3867C>G (p.Asp1289Glu) c.3945C>G (p.Asp1315Glu) c.3390C>G (p.Asp1130Glu) | |
18 | g.44953207C>T | CA8946007 | SETBP1 | c.3867C>T (p.Asp1289=) c.3945C>T (p.Asp1315=) c.3390C>T (p.Asp1130=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953208A>C | CA402325359 | SETBP1 | c.3868A>C (p.Lys1290Gln) c.3946A>C (p.Lys1316Gln) c.3391A>C (p.Lys1131Gln) | |
18 | g.44953208A>G | CA402325360 | SETBP1 | c.3868A>G (p.Lys1290Glu) c.3946A>G (p.Lys1316Glu) c.3391A>G (p.Lys1131Glu) | |
18 | g.44953208A>T | CA402325361 | SETBP1 | c.3868A>T (p.Lys1290Ter) c.3946A>T (p.Lys1316Ter) c.3391A>T (p.Lys1131Ter) | |
18 | g.44953209A= | CA2300141312 | SETBP1 | c.3869A= (p.Lys1290=) c.3947A= (p.Lys1316=) c.3392A= (p.Lys1131=) | |
18 | g.44953209A>C | CA402325362 | SETBP1 | c.3869A>C (p.Lys1290Thr) c.3947A>C (p.Lys1316Thr) c.3392A>C (p.Lys1131Thr) | |
18 | g.44953209A>G | CA402325363 | SETBP1 | c.3869A>G (p.Lys1290Arg) c.3947A>G (p.Lys1316Arg) c.3392A>G (p.Lys1131Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953209A>T | CA402325364 | SETBP1 | c.3869A>T (p.Lys1290Met) c.3947A>T (p.Lys1316Met) c.3392A>T (p.Lys1131Met) | |
18 | g.44953210G>A | CA299699914 | SETBP1 | c.3870G>A (p.Lys1290=) c.3948G>A (p.Lys1316=) c.3393G>A (p.Lys1131=) | ClinVar dbSNP gnomAD v4 |
18 | g.44953210G>C | CA8946008 | SETBP1 | c.3870G>C (p.Lys1290Asn) c.3948G>C (p.Lys1316Asn) c.3393G>C (p.Lys1131Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.44953210G= | CA2300141313 | SETBP1 | c.3870G= (p.Lys1290=) c.3948G= (p.Lys1316=) c.3393G= (p.Lys1131=) | |
18 | g.44953210G>T | CA402325365 | SETBP1 | c.3870G>T (p.Lys1290Asn) c.3948G>T (p.Lys1316Asn) c.3393G>T (p.Lys1131Asn) | |
18 | g.44953211T>A | CA402325366 | SETBP1 | c.3871T>A (p.Trp1291Arg) c.3949T>A (p.Trp1317Arg) c.3394T>A (p.Trp1132Arg) | |
18 | g.44953211T>C | CA402325367 | SETBP1 | c.3871T>C (p.Trp1291Arg) c.3949T>C (p.Trp1317Arg) c.3394T>C (p.Trp1132Arg) | |
18 | g.44953211T>G | CA402325368 | SETBP1 | c.3871T>G (p.Trp1291Gly) c.3949T>G (p.Trp1317Gly) c.3394T>G (p.Trp1132Gly) | |
18 | g.44953212G>A | CA402325370 | SETBP1 | c.3872G>A (p.Trp1291Ter) c.3950G>A (p.Trp1317Ter) c.3395G>A (p.Trp1132Ter) | |
18 | g.44953212G>C | CA402325371 | SETBP1 | c.3872G>C (p.Trp1291Ser) c.3950G>C (p.Trp1317Ser) c.3395G>C (p.Trp1132Ser) | dbSNP |
18 | g.44953212G= | CA2300141314 | SETBP1 | c.3872G= (p.Trp1291=) c.3950G= (p.Trp1317=) c.3395G= (p.Trp1132=) | |
18 | g.44953212G>T | CA402325369 | SETBP1 | c.3872G>T (p.Trp1291Leu) c.3950G>T (p.Trp1317Leu) c.3395G>T (p.Trp1132Leu) | |
18 | g.44953213G>A | CA402325374 | SETBP1 | c.3873G>A (p.Trp1291Ter) c.3951G>A (p.Trp1317Ter) c.3396G>A (p.Trp1132Ter) | |
18 | g.44953213G>C | CA402325372 | SETBP1 | c.3873G>C (p.Trp1291Cys) c.3951G>C (p.Trp1317Cys) c.3396G>C (p.Trp1132Cys) | |
18 | g.44953213G>T | CA402325373 | SETBP1 | c.3873G>T (p.Trp1291Cys) c.3951G>T (p.Trp1317Cys) c.3396G>T (p.Trp1132Cys) | |
18 | g.44953214G>A | CA402325375 | SETBP1 | c.3874G>A (p.Asp1292Asn) c.3952G>A (p.Asp1318Asn) c.3397G>A (p.Asp1133Asn) | gnomAD v4 |
18 | g.44953214G>C | CA402325376 | SETBP1 | c.3874G>C (p.Asp1292His) c.3952G>C (p.Asp1318His) c.3397G>C (p.Asp1133His) | ClinVar |
18 | g.44953214G>T | CA402325377 | SETBP1 | c.3874G>T (p.Asp1292Tyr) c.3952G>T (p.Asp1318Tyr) c.3397G>T (p.Asp1133Tyr) | |
18 | g.44953215A>C | CA402325378 | SETBP1 | c.3875A>C (p.Asp1292Ala) c.3953A>C (p.Asp1318Ala) c.3398A>C (p.Asp1133Ala) | |
18 | g.44953215A>G | CA402325379 | SETBP1 | c.3875A>G (p.Asp1292Gly) c.3953A>G (p.Asp1318Gly) c.3398A>G (p.Asp1133Gly) | |
18 | g.44953215A>T | CA402325380 | SETBP1 | c.3875A>T (p.Asp1292Val) c.3953A>T (p.Asp1318Val) c.3398A>T (p.Asp1133Val) | ClinVar dbSNP |
18 | g.44953216C>A | CA402325381 | SETBP1 | c.3876C>A (p.Asp1292Glu) c.3954C>A (p.Asp1318Glu) c.3399C>A (p.Asp1133Glu) | |
18 | g.44953216C= | CA2300141315 | SETBP1 | c.3876C= (p.Asp1292=) c.3954C= (p.Asp1318=) c.3399C= (p.Asp1133=) | |
18 | g.44953216C>G | CA8946009 | SETBP1 | c.3876C>G (p.Asp1292Glu) c.3954C>G (p.Asp1318Glu) c.3399C>G (p.Asp1133Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953216C>T | CA503982903 | SETBP1 | c.3876C>T (p.Asp1292=) c.3954C>T (p.Asp1318=) c.3399C>T (p.Asp1133=) | |
18 | g.44953217A= | CA2300141316 | SETBP1 | c.3877A= (p.Ser1293=) c.3955A= (p.Ser1319=) c.3400A= (p.Ser1134=) | |
18 | g.44953217A>C | CA402325382 | SETBP1 | c.3877A>C (p.Ser1293Arg) c.3955A>C (p.Ser1319Arg) c.3400A>C (p.Ser1134Arg) | |
18 | g.44953217A>G | CA402325383 | SETBP1 | c.3877A>G (p.Ser1293Gly) c.3955A>G (p.Ser1319Gly) c.3400A>G (p.Ser1134Gly) | ClinVar dbSNP gnomAD v4 |
18 | g.44953217A>T | CA402325384 | SETBP1 | c.3877A>T (p.Ser1293Cys) c.3955A>T (p.Ser1319Cys) c.3400A>T (p.Ser1134Cys) | |
18 | g.44953218G>A | CA402325385 | SETBP1 | c.3878G>A (p.Ser1293Asn) c.3956G>A (p.Ser1319Asn) c.3401G>A (p.Ser1134Asn) | |
18 | g.44953218G>C | CA402325387 | SETBP1 | c.3878G>C (p.Ser1293Thr) c.3956G>C (p.Ser1319Thr) c.3401G>C (p.Ser1134Thr) | |
18 | g.44953218G>T | CA402325386 | SETBP1 | c.3878G>T (p.Ser1293Ile) c.3956G>T (p.Ser1319Ile) c.3401G>T (p.Ser1134Ile) | |
18 | g.44953219T>A | CA402325388 | SETBP1 | c.3879T>A (p.Ser1293Arg) c.3957T>A (p.Ser1319Arg) c.3402T>A (p.Ser1134Arg) | |
18 | g.44953219T>C | CA503982910 | SETBP1 | c.3879T>C (p.Ser1293=) c.3957T>C (p.Ser1319=) c.3402T>C (p.Ser1134=) | |
18 | g.44953219T>G | CA402325389 | SETBP1 | c.3879T>G (p.Ser1293Arg) c.3957T>G (p.Ser1319Arg) c.3402T>G (p.Ser1134Arg) | ClinVar |
18 | g.44953220G>A | CA402325390 | SETBP1 | c.3880G>A (p.Asp1294Asn) c.3958G>A (p.Asp1320Asn) c.3403G>A (p.Asp1135Asn) | |
18 | g.44953220G>C | CA402325391 | SETBP1 | c.3880G>C (p.Asp1294His) c.3958G>C (p.Asp1320His) c.3403G>C (p.Asp1135His) | gnomAD v4 COSMIC |
18 | g.44953220G>T | CA402325392 | SETBP1 | c.3880G>T (p.Asp1294Tyr) c.3958G>T (p.Asp1320Tyr) c.3403G>T (p.Asp1135Tyr) | |
18 | g.44953221A>C | CA402325393 | SETBP1 | c.3881A>C (p.Asp1294Ala) c.3959A>C (p.Asp1320Ala) c.3404A>C (p.Asp1135Ala) | |
18 | g.44953221A>G | CA402325394 | SETBP1 | c.3881A>G (p.Asp1294Gly) c.3959A>G (p.Asp1320Gly) c.3404A>G (p.Asp1135Gly) | |
18 | g.44953221A>T | CA402325395 | SETBP1 | c.3881A>T (p.Asp1294Val) c.3959A>T (p.Asp1320Val) c.3404A>T (p.Asp1135Val) | |
18 | g.44953222C>A | CA402325396 | SETBP1 | c.3882C>A (p.Asp1294Glu) c.3960C>A (p.Asp1320Glu) c.3405C>A (p.Asp1135Glu) | gnomAD v4 |
18 | g.44953222C= | CA2300141317 | SETBP1 | c.3882C= (p.Asp1294=) c.3960C= (p.Asp1320=) c.3405C= (p.Asp1135=) | |
18 | g.44953222C>G | CA402325397 | SETBP1 | c.3882C>G (p.Asp1294Glu) c.3960C>G (p.Asp1320Glu) c.3405C>G (p.Asp1135Glu) | |
18 | g.44953222C>T | CA8946010 | SETBP1 | c.3882C>T (p.Asp1294=) c.3960C>T (p.Asp1320=) c.3405C>T (p.Asp1135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953223G>A | CA8946011 | SETBP1 | c.3883G>A (p.Val1295Met) c.3961G>A (p.Val1321Met) c.3406G>A (p.Val1136Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.44953223G>C | CA402325399 | SETBP1 | c.3883G>C (p.Val1295Leu) c.3961G>C (p.Val1321Leu) c.3406G>C (p.Val1136Leu) | gnomAD v4 |
18 | g.44953223G= | CA2300141318 | SETBP1 | c.3883G= (p.Val1295=) c.3961G= (p.Val1321=) c.3406G= (p.Val1136=) | |
18 | g.44953223G>T | CA402325398 | SETBP1 | c.3883G>T (p.Val1295Leu) c.3961G>T (p.Val1321Leu) c.3406G>T (p.Val1136Leu) | |
18 | g.44953224T>A | CA402325400 | SETBP1 | c.3884T>A (p.Val1295Glu) c.3962T>A (p.Val1321Glu) c.3407T>A (p.Val1136Glu) | |
18 | g.44953224T>C | CA402325401 | SETBP1 | c.3884T>C (p.Val1295Ala) c.3962T>C (p.Val1321Ala) c.3407T>C (p.Val1136Ala) | |
18 | g.44953224T>G | CA402325402 | SETBP1 | c.3884T>G (p.Val1295Gly) c.3962T>G (p.Val1321Gly) c.3407T>G (p.Val1136Gly) | gnomAD v4 |
18 | g.44953225G>A | CA503982918 | SETBP1 | c.3885G>A (p.Val1295=) c.3963G>A (p.Val1321=) c.3408G>A (p.Val1136=) | gnomAD v4 |
18 | g.44953225G>C | CA503982919 | SETBP1 | c.3885G>C (p.Val1295=) c.3963G>C (p.Val1321=) c.3408G>C (p.Val1136=) | |
18 | g.44953225G>T | CA503982923 | SETBP1 | c.3885G>T (p.Val1295=) c.3963G>T (p.Val1321=) c.3408G>T (p.Val1136=) | |
18 | g.44953226A>C | CA402325403 | SETBP1 | c.3886A>C (p.Ser1296Arg) c.3964A>C (p.Ser1322Arg) c.3409A>C (p.Ser1137Arg) | |
18 | g.44953226A>G | CA402325404 | SETBP1 | c.3886A>G (p.Ser1296Gly) c.3964A>G (p.Ser1322Gly) c.3409A>G (p.Ser1137Gly) | |
18 | g.44953226A>T | CA402325405 | SETBP1 | c.3886A>T (p.Ser1296Cys) c.3964A>T (p.Ser1322Cys) c.3409A>T (p.Ser1137Cys) | |
18 | g.44953227G>A | CA8946012 | SETBP1 | c.3887G>A (p.Ser1296Asn) c.3965G>A (p.Ser1322Asn) c.3410G>A (p.Ser1137Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953227G>C | CA402325406 | SETBP1 | c.3887G>C (p.Ser1296Thr) c.3965G>C (p.Ser1322Thr) c.3410G>C (p.Ser1137Thr) | gnomAD v4 |
18 | g.44953227G= | CA2300141319 | SETBP1 | c.3887G= (p.Ser1296=) c.3965G= (p.Ser1322=) c.3410G= (p.Ser1137=) | |
18 | g.44953227G>T | CA402325407 | SETBP1 | c.3887G>T (p.Ser1296Ile) c.3965G>T (p.Ser1322Ile) c.3410G>T (p.Ser1137Ile) | |
18 | g.44953228T>A | CA402325408 | SETBP1 | c.3888T>A (p.Ser1296Arg) c.3966T>A (p.Ser1322Arg) c.3411T>A (p.Ser1137Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.44953228T>C | CA503982926 | SETBP1 | c.3888T>C (p.Ser1296=) c.3966T>C (p.Ser1322=) c.3411T>C (p.Ser1137=) | |
18 | g.44953228T>G | CA402325409 | SETBP1 | c.3888T>G (p.Ser1296Arg) c.3966T>G (p.Ser1322Arg) c.3411T>G (p.Ser1137Arg) | |
18 | g.44953228T= | CA2300141320 | SETBP1 | c.3888T= (p.Ser1296=) c.3966T= (p.Ser1322=) c.3411T= (p.Ser1137=) | |
18 | g.44953229G>A | CA402325410 | SETBP1 | c.3889G>A (p.Gly1297Arg) c.3967G>A (p.Gly1323Arg) c.3412G>A (p.Gly1138Arg) | |
18 | g.44953229G>C | CA402325411 | SETBP1 | c.3889G>C (p.Gly1297Arg) c.3967G>C (p.Gly1323Arg) c.3412G>C (p.Gly1138Arg) | gnomAD v4 |
18 | g.44953229G>T | CA402325412 | SETBP1 | c.3889G>T (p.Gly1297Trp) c.3967G>T (p.Gly1323Trp) c.3412G>T (p.Gly1138Trp) | |
18 | g.44953230G>A | CA402325413 | SETBP1 | c.3890G>A (p.Gly1297Glu) c.3968G>A (p.Gly1323Glu) c.3413G>A (p.Gly1138Glu) | |
18 | g.44953230G>C | CA402325415 | SETBP1 | c.3890G>C (p.Gly1297Ala) c.3968G>C (p.Gly1323Ala) c.3413G>C (p.Gly1138Ala) | |
18 | g.44953230G>T | CA402325414 | SETBP1 | c.3890G>T (p.Gly1297Val) c.3968G>T (p.Gly1323Val) c.3413G>T (p.Gly1138Val) | |
18 | g.44953231G>A | CA8946013 | SETBP1 | c.3891G>A (p.Gly1297=) c.3969G>A (p.Gly1323=) c.3414G>A (p.Gly1138=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953231G>C | CA503982931 | SETBP1 | c.3891G>C (p.Gly1297=) c.3969G>C (p.Gly1323=) c.3414G>C (p.Gly1138=) | |
18 | g.44953231G= | CA2300141321 | SETBP1 | c.3891G= (p.Gly1297=) c.3969G= (p.Gly1323=) c.3414G= (p.Gly1138=) | |
18 | g.44953231G>T | CA503982933 | SETBP1 | c.3891G>T (p.Gly1297=) c.3969G>T (p.Gly1323=) c.3414G>T (p.Gly1138=) | |
18 | g.44953232A>C | CA402325416 | SETBP1 | c.3892A>C (p.Ser1298Arg) c.3970A>C (p.Ser1324Arg) c.3415A>C (p.Ser1139Arg) | |
18 | g.44953232A>G | CA402325417 | SETBP1 | c.3892A>G (p.Ser1298Gly) c.3970A>G (p.Ser1324Gly) c.3415A>G (p.Ser1139Gly) | |
18 | g.44953232A>T | CA402325418 | SETBP1 | c.3892A>T (p.Ser1298Cys) c.3970A>T (p.Ser1324Cys) c.3415A>T (p.Ser1139Cys) | |
18 | g.44953233G>A | CA402325419 | SETBP1 | c.3893G>A (p.Ser1298Asn) c.3971G>A (p.Ser1324Asn) c.3416G>A (p.Ser1139Asn) | dbSNP gnomAD v4 |
18 | g.44953233G>C | CA402325420 | SETBP1 | c.3893G>C (p.Ser1298Thr) c.3971G>C (p.Ser1324Thr) c.3416G>C (p.Ser1139Thr) | |
18 | g.44953233G= | CA2300141322 | SETBP1 | c.3893G= (p.Ser1298=) c.3971G= (p.Ser1324=) c.3416G= (p.Ser1139=) | |
18 | g.44953233G>T | CA402325421 | SETBP1 | c.3893G>T (p.Ser1298Ile) c.3971G>T (p.Ser1324Ile) c.3416G>T (p.Ser1139Ile) | |
18 | g.44953234T>A | CA402325422 | SETBP1 | c.3894T>A (p.Ser1298Arg) c.3972T>A (p.Ser1324Arg) c.3417T>A (p.Ser1139Arg) | |
18 | g.44953234T>C | CA503982936 | SETBP1 | c.3894T>C (p.Ser1298=) c.3972T>C (p.Ser1324=) c.3417T>C (p.Ser1139=) | |
18 | g.44953234T>G | CA402325423 | SETBP1 | c.3894T>G (p.Ser1298Arg) c.3972T>G (p.Ser1324Arg) c.3417T>G (p.Ser1139Arg) | |
18 | g.44953235A= | CA2300141323 | SETBP1 | c.3895A= (p.Lys1299=) c.3973A= (p.Lys1325=) c.3418A= (p.Lys1140=) | |
18 | g.44953235A>C | CA402325424 | SETBP1 | c.3895A>C (p.Lys1299Gln) c.3973A>C (p.Lys1325Gln) c.3418A>C (p.Lys1140Gln) | |
18 | g.44953235A>G | CA402325425 | SETBP1 | c.3895A>G (p.Lys1299Glu) c.3973A>G (p.Lys1325Glu) c.3418A>G (p.Lys1140Glu) | dbSNP gnomAD v4 |
18 | g.44953235A>T | CA402325426 | SETBP1 | c.3895A>T (p.Lys1299Ter) c.3973A>T (p.Lys1325Ter) c.3418A>T (p.Lys1140Ter) | |
18 | g.44953236A>C | CA402325429 | SETBP1 | c.3896A>C (p.Lys1299Thr) c.3974A>C (p.Lys1325Thr) c.3419A>C (p.Lys1140Thr) | |
18 | g.44953236A>G | CA402325428 | SETBP1 | c.3896A>G (p.Lys1299Arg) c.3974A>G (p.Lys1325Arg) c.3419A>G (p.Lys1140Arg) | |
18 | g.44953236A>T | CA402325427 | SETBP1 | c.3896A>T (p.Lys1299Ile) c.3974A>T (p.Lys1325Ile) c.3419A>T (p.Lys1140Ile) | |
18 | g.44953237A>C | CA402325430 | SETBP1 | c.3897A>C (p.Lys1299Asn) c.3975A>C (p.Lys1325Asn) c.3420A>C (p.Lys1140Asn) | |
18 | g.44953237A>G | CA503982939 | SETBP1 | c.3897A>G (p.Lys1299=) c.3975A>G (p.Lys1325=) c.3420A>G (p.Lys1140=) | |
18 | g.44953237A>T | CA402325431 | SETBP1 | c.3897A>T (p.Lys1299Asn) c.3975A>T (p.Lys1325Asn) c.3420A>T (p.Lys1140Asn) | |
18 | g.44953237_44953240delinsAAGG | CA2300141324 | SETBP1 | c.3897_3900delinsAAGG (p.Lys1299=) c.3975_3978delinsAAGG (p.Lys1325=) c.3420_3423delinsAAGG (p.Lys1140=) | |
18 | g.44953238A>C | CA503982940 | SETBP1 | c.3898A>C (p.Arg1300=) c.3976A>C (p.Arg1326=) c.3421A>C (p.Arg1141=) | |
18 | g.44953238A>G | CA402325432 | SETBP1 | c.3898A>G (p.Arg1300Gly) c.3976A>G (p.Arg1326Gly) c.3421A>G (p.Arg1141Gly) | gnomAD v4 |
18 | g.44953238A>T | CA402325433 | SETBP1 | c.3898A>T (p.Arg1300Trp) c.3976A>T (p.Arg1326Trp) c.3421A>T (p.Arg1141Trp) | |
18 | g.44953243_44953245del | CA8946014 | SETBP1 | c.3903_3905del (p.Arg1301del) c.3981_3983del (p.Arg1327del) c.3426_3428del (p.Arg1142del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953239G>A | CA402325434 | SETBP1 | c.3899G>A (p.Arg1300Lys) c.3977G>A (p.Arg1326Lys) c.3422G>A (p.Arg1141Lys) | |
18 | g.44953239G>C | CA402325435 | SETBP1 | c.3899G>C (p.Arg1300Thr) c.3977G>C (p.Arg1326Thr) c.3422G>C (p.Arg1141Thr) | |
18 | g.44953239G>T | CA402325436 | SETBP1 | c.3899G>T (p.Arg1300Met) c.3977G>T (p.Arg1326Met) c.3422G>T (p.Arg1141Met) | |
18 | g.44953240G>A | CA503982942 | SETBP1 | c.3900G>A (p.Arg1300=) c.3978G>A (p.Arg1326=) c.3423G>A (p.Arg1141=) | |
18 | g.44953240G>C | CA402325437 | SETBP1 | c.3900G>C (p.Arg1300Ser) c.3978G>C (p.Arg1326Ser) c.3423G>C (p.Arg1141Ser) | |
18 | g.44953240G>T | CA402325438 | SETBP1 | c.3900G>T (p.Arg1300Ser) c.3978G>T (p.Arg1326Ser) c.3423G>T (p.Arg1141Ser) | |
18 | g.44953241A>C | CA503982944 | SETBP1 | c.3901A>C (p.Arg1301=) c.3979A>C (p.Arg1327=) c.3424A>C (p.Arg1142=) | |
18 | g.44953241A>G | CA402325439 | SETBP1 | c.3901A>G (p.Arg1301Gly) c.3979A>G (p.Arg1327Gly) c.3424A>G (p.Arg1142Gly) | |
18 | g.44953241A>T | CA402325440 | SETBP1 | c.3901A>T (p.Arg1301Trp) c.3979A>T (p.Arg1327Trp) c.3424A>T (p.Arg1142Trp) | |
18 | g.44953242G>A | CA402325441 | SETBP1 | c.3902G>A (p.Arg1301Lys) c.3980G>A (p.Arg1327Lys) c.3425G>A (p.Arg1142Lys) | |
18 | g.44953242G>C | CA402325442 | SETBP1 | c.3902G>C (p.Arg1301Thr) c.3980G>C (p.Arg1327Thr) c.3425G>C (p.Arg1142Thr) | |
18 | g.44953242G>T | CA402325443 | SETBP1 | c.3902G>T (p.Arg1301Met) c.3980G>T (p.Arg1327Met) c.3425G>T (p.Arg1142Met) | dbSNP |
18 | g.44953243G>A | CA503982947 | SETBP1 | c.3903G>A (p.Arg1301=) c.3981G>A (p.Arg1327=) c.3426G>A (p.Arg1142=) | gnomAD v4 |
18 | g.44953243G>C | CA402325445 | SETBP1 | c.3903G>C (p.Arg1301Ser) c.3981G>C (p.Arg1327Ser) c.3426G>C (p.Arg1142Ser) | |
18 | g.44953243G= | CA2300141325 | SETBP1 | c.3903G= (p.Arg1301=) c.3981G= (p.Arg1327=) c.3426G= (p.Arg1142=) | |
18 | g.44953243G>T | CA402325444 | SETBP1 | c.3903G>T (p.Arg1301Ser) c.3981G>T (p.Arg1327Ser) c.3426G>T (p.Arg1142Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953244A>C | CA402325446 | SETBP1 | c.3904A>C (p.Ser1302Arg) c.3982A>C (p.Ser1328Arg) c.3427A>C (p.Ser1143Arg) | |
18 | g.44953244A>G | CA402325447 | SETBP1 | c.3904A>G (p.Ser1302Gly) c.3982A>G (p.Ser1328Gly) c.3427A>G (p.Ser1143Gly) | |
18 | g.44953244A>T | CA402325448 | SETBP1 | c.3904A>T (p.Ser1302Cys) c.3982A>T (p.Ser1328Cys) c.3427A>T (p.Ser1143Cys) | |
18 | g.44953245G>A | CA8946015 | SETBP1 | c.3905G>A (p.Ser1302Asn) c.3983G>A (p.Ser1328Asn) c.3428G>A (p.Ser1143Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953245G>C | CA402325449 | SETBP1 | c.3905G>C (p.Ser1302Thr) c.3983G>C (p.Ser1328Thr) c.3428G>C (p.Ser1143Thr) | |
18 | g.44953245G= | CA2300141326 | SETBP1 | c.3905G= (p.Ser1302=) c.3983G= (p.Ser1328=) c.3428G= (p.Ser1143=) | |
18 | g.44953245G>T | CA402325450 | SETBP1 | c.3905G>T (p.Ser1302Ile) c.3983G>T (p.Ser1328Ile) c.3428G>T (p.Ser1143Ile) | gnomAD v4 |
18 | g.44953246C>A | CA402325451 | SETBP1 | c.3906C>A (p.Ser1302Arg) c.3984C>A (p.Ser1328Arg) c.3429C>A (p.Ser1143Arg) | |
18 | g.44953246C= | CA2300141327 | SETBP1 | c.3906C= (p.Ser1302=) c.3984C= (p.Ser1328=) c.3429C= (p.Ser1143=) | |
18 | g.44953246C>G | CA402325452 | SETBP1 | c.3906C>G (p.Ser1302Arg) c.3984C>G (p.Ser1328Arg) c.3429C>G (p.Ser1143Arg) | |
18 | g.44953246C>T | CA503982952 | SETBP1 | c.3906C>T (p.Ser1302=) c.3984C>T (p.Ser1328=) c.3429C>T (p.Ser1143=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.44953247T>A | CA402325453 | SETBP1 | c.3907T>A (p.Tyr1303Asn) c.3985T>A (p.Tyr1329Asn) c.3430T>A (p.Tyr1144Asn) | |
18 | g.44953247T>C | CA402325454 | SETBP1 | c.3907T>C (p.Tyr1303His) c.3985T>C (p.Tyr1329His) c.3430T>C (p.Tyr1144His) | |
18 | g.44953247T>G | CA402325455 | SETBP1 | c.3907T>G (p.Tyr1303Asp) c.3985T>G (p.Tyr1329Asp) c.3430T>G (p.Tyr1144Asp) | |
18 | g.44953248A= | CA2300141328 | SETBP1 | c.3908A= (p.Tyr1303=) c.3986A= (p.Tyr1329=) c.3431A= (p.Tyr1144=) | |
18 | g.44953248A>C | CA8946016 | SETBP1 | c.3908A>C (p.Tyr1303Ser) c.3986A>C (p.Tyr1329Ser) c.3431A>C (p.Tyr1144Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953248A>G | CA402325457 | SETBP1 | c.3908A>G (p.Tyr1303Cys) c.3986A>G (p.Tyr1329Cys) c.3431A>G (p.Tyr1144Cys) | ClinVar |
18 | g.44953248A>T | CA402325456 | SETBP1 | c.3908A>T (p.Tyr1303Phe) c.3986A>T (p.Tyr1329Phe) c.3431A>T (p.Tyr1144Phe) | |
18 | g.44953249T>A | CA402325458 | SETBP1 | c.3909T>A (p.Tyr1303Ter) c.3987T>A (p.Tyr1329Ter) c.3432T>A (p.Tyr1144Ter) | ClinVar |
18 | g.44953249T>C | CA503982957 | SETBP1 | c.3909T>C (p.Tyr1303=) c.3987T>C (p.Tyr1329=) c.3432T>C (p.Tyr1144=) | |
18 | g.44953249T>G | CA402325459 | SETBP1 | c.3909T>G (p.Tyr1303Ter) c.3987T>G (p.Tyr1329Ter) c.3432T>G (p.Tyr1144Ter) | |
18 | g.44953250G>A | CA402325460 | SETBP1 | c.3910G>A (p.Glu1304Lys) c.3988G>A (p.Glu1330Lys) c.3433G>A (p.Glu1145Lys) | |
18 | g.44953250G>C | CA402325461 | SETBP1 | c.3910G>C (p.Glu1304Gln) c.3988G>C (p.Glu1330Gln) c.3433G>C (p.Glu1145Gln) | |
18 | g.44953250G>T | CA402325462 | SETBP1 | c.3910G>T (p.Glu1304Ter) c.3988G>T (p.Glu1330Ter) c.3433G>T (p.Glu1145Ter) | |
18 | g.44953251A>C | CA402325465 | SETBP1 | c.3911A>C (p.Glu1304Ala) c.3989A>C (p.Glu1330Ala) c.3434A>C (p.Glu1145Ala) | |
18 | g.44953251A>G | CA402325464 | SETBP1 | c.3911A>G (p.Glu1304Gly) c.3989A>G (p.Glu1330Gly) c.3434A>G (p.Glu1145Gly) | |
18 | g.44953251A>T | CA402325463 | SETBP1 | c.3911A>T (p.Glu1304Val) c.3989A>T (p.Glu1330Val) c.3434A>T (p.Glu1145Val) | |
18 | g.44953252A= | CA2300141329 | SETBP1 | c.3912A= (p.Glu1304=) c.3990A= (p.Glu1330=) c.3435A= (p.Glu1145=) | |
18 | g.44953252A>C | CA402325466 | SETBP1 | c.3912A>C (p.Glu1304Asp) c.3990A>C (p.Glu1330Asp) c.3435A>C (p.Glu1145Asp) | gnomAD v4 |
18 | g.44953252A>G | CA8946017 | SETBP1 | c.3912A>G (p.Glu1304=) c.3990A>G (p.Glu1330=) c.3435A>G (p.Glu1145=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.44953252A>T | CA402325467 | SETBP1 | c.3912A>T (p.Glu1304Asp) c.3990A>T (p.Glu1330Asp) c.3435A>T (p.Glu1145Asp) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.44953253G>A | CA402325468 | SETBP1 | c.3913G>A (p.Gly1305Ser) c.3991G>A (p.Gly1331Ser) c.3436G>A (p.Gly1146Ser) | |
18 | g.44953253G>C | CA402325469 | SETBP1 | c.3913G>C (p.Gly1305Arg) c.3991G>C (p.Gly1331Arg) c.3436G>C (p.Gly1146Arg) | |
18 | g.44953253G>T | CA402325470 | SETBP1 | c.3913G>T (p.Gly1305Cys) c.3991G>T (p.Gly1331Cys) c.3436G>T (p.Gly1146Cys) | |
18 | g.44953254G>A | CA402325471 | SETBP1 | c.3914G>A (p.Gly1305Asp) c.3992G>A (p.Gly1331Asp) c.3437G>A (p.Gly1146Asp) | |
18 | g.44953254G>C | CA402325472 | SETBP1 | c.3914G>C (p.Gly1305Ala) c.3992G>C (p.Gly1331Ala) c.3437G>C (p.Gly1146Ala) | gnomAD v4 |
18 | g.44953254G= | CA2300141330 | SETBP1 | c.3914G= (p.Gly1305=) c.3992G= (p.Gly1331=) c.3437G= (p.Gly1146=) | |
18 | g.44953254G>T | CA8946018 | SETBP1 | c.3914G>T (p.Gly1305Val) c.3992G>T (p.Gly1331Val) c.3437G>T (p.Gly1146Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953255C>A | CA503982964 | SETBP1 | c.3915C>A (p.Gly1305=) c.3993C>A (p.Gly1331=) c.3438C>A (p.Gly1146=) | |
18 | g.44953255C>G | CA503982965 | SETBP1 | c.3915C>G (p.Gly1305=) c.3993C>G (p.Gly1331=) c.3438C>G (p.Gly1146=) | |
18 | g.44953255C>T | CA503982966 | SETBP1 | c.3915C>T (p.Gly1305=) c.3993C>T (p.Gly1331=) c.3438C>T (p.Gly1146=) | |
18 | g.44953256T>A | CA402325473 | SETBP1 | c.3916T>A (p.Phe1306Ile) c.3994T>A (p.Phe1332Ile) c.3439T>A (p.Phe1147Ile) | |
18 | g.44953256T>C | CA402325474 | SETBP1 | c.3916T>C (p.Phe1306Leu) c.3994T>C (p.Phe1332Leu) c.3439T>C (p.Phe1147Leu) | |
18 | g.44953256T>G | CA402325475 | SETBP1 | c.3916T>G (p.Phe1306Val) c.3994T>G (p.Phe1332Val) c.3439T>G (p.Phe1147Val) | |
18 | g.44953257T>A | CA402325476 | SETBP1 | c.3917T>A (p.Phe1306Tyr) c.3995T>A (p.Phe1332Tyr) c.3440T>A (p.Phe1147Tyr) | |
18 | g.44953257T>C | CA402325477 | SETBP1 | c.3917T>C (p.Phe1306Ser) c.3995T>C (p.Phe1332Ser) c.3440T>C (p.Phe1147Ser) | |
18 | g.44953257T>G | CA402325478 | SETBP1 | c.3917T>G (p.Phe1306Cys) c.3995T>G (p.Phe1332Cys) c.3440T>G (p.Phe1147Cys) | |
18 | g.44953258T>A | CA402325479 | SETBP1 | c.3918T>A (p.Phe1306Leu) c.3996T>A (p.Phe1332Leu) c.3441T>A (p.Phe1147Leu) | gnomAD v4 |
18 | g.44953258T>C | CA503982971 | SETBP1 | c.3918T>C (p.Phe1306=) c.3996T>C (p.Phe1332=) c.3441T>C (p.Phe1147=) | |
18 | g.44953258T>G | CA402325480 | SETBP1 | c.3918T>G (p.Phe1306Leu) c.3996T>G (p.Phe1332Leu) c.3441T>G (p.Phe1147Leu) | |
18 | g.44953259G>A | CA402325481 | SETBP1 | c.3919G>A (p.Gly1307Arg) c.3997G>A (p.Gly1333Arg) c.3442G>A (p.Gly1148Arg) | |
18 | g.44953259G>C | CA402325482 | SETBP1 | c.3919G>C (p.Gly1307Arg) c.3997G>C (p.Gly1333Arg) c.3442G>C (p.Gly1148Arg) | |
18 | g.44953259G>T | CA402325483 | SETBP1 | c.3919G>T (p.Gly1307Ter) c.3997G>T (p.Gly1333Ter) c.3442G>T (p.Gly1148Ter) | |
18 | g.44953260G>A | CA402325486 | SETBP1 | c.3920G>A (p.Gly1307Glu) c.3998G>A (p.Gly1333Glu) c.3443G>A (p.Gly1148Glu) | |
18 | g.44953260G>C | CA402325485 | SETBP1 | c.3920G>C (p.Gly1307Ala) c.3998G>C (p.Gly1333Ala) c.3443G>C (p.Gly1148Ala) | |
18 | g.44953260G>T | CA402325484 | SETBP1 | c.3920G>T (p.Gly1307Val) c.3998G>T (p.Gly1333Val) c.3443G>T (p.Gly1148Val) | |
18 | g.44953261A= | CA2300141331 | SETBP1 | c.3921A= (p.Gly1307=) c.3999A= (p.Gly1333=) c.3444A= (p.Gly1148=) | |
18 | g.44953261A>C | CA503982977 | SETBP1 | c.3921A>C (p.Gly1307=) c.3999A>C (p.Gly1333=) c.3444A>C (p.Gly1148=) | |
18 | g.44953261A>G | CA503982978 | SETBP1 | c.3921A>G (p.Gly1307=) c.3999A>G (p.Gly1333=) c.3444A>G (p.Gly1148=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.44953261A>T | CA503982979 | SETBP1 | c.3921A>T (p.Gly1307=) c.3999A>T (p.Gly1333=) c.3444A>T (p.Gly1148=) | |
18 | g.44953262A= | CA2300141332 | SETBP1 | c.3922A= (p.Thr1308=) c.4000A= (p.Thr1334=) c.3445A= (p.Thr1149=) | |
18 | g.44953262A>C | CA402325487 | SETBP1 | c.3922A>C (p.Thr1308Pro) c.4000A>C (p.Thr1334Pro) c.3445A>C (p.Thr1149Pro) | |
18 | g.44953262A>G | CA402325489 | SETBP1 | c.3922A>G (p.Thr1308Ala) c.4000A>G (p.Thr1334Ala) c.3445A>G (p.Thr1149Ala) | dbSNP gnomAD v4 |
18 | g.44953262A>T | CA402325488 | SETBP1 | c.3922A>T (p.Thr1308Ser) c.4000A>T (p.Thr1334Ser) c.3445A>T (p.Thr1149Ser) | |
18 | g.44953263C>A | CA402325490 | SETBP1 | c.3923C>A (p.Thr1308Lys) c.4001C>A (p.Thr1334Lys) c.3446C>A (p.Thr1149Lys) | COSMIC |
18 | g.44953263C= | CA2300141333 | SETBP1 | c.3923C= (p.Thr1308=) c.4001C= (p.Thr1334=) c.3446C= (p.Thr1149=) | |
18 | g.44953263C>G | CA402325491 | SETBP1 | c.3923C>G (p.Thr1308Arg) c.4001C>G (p.Thr1334Arg) c.3446C>G (p.Thr1149Arg) | gnomAD v4 |
18 | g.44953263C>T | CA299699955 | SETBP1 | c.3923C>T (p.Thr1308Met) c.4001C>T (p.Thr1334Met) c.3446C>T (p.Thr1149Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.44953264G>A | CA8946019 | SETBP1 | c.3924G>A (p.Thr1308=) c.4002G>A (p.Thr1334=) c.3447G>A (p.Thr1149=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953264G>C | CA8946020 | SETBP1 | c.3924G>C (p.Thr1308=) c.4002G>C (p.Thr1334=) c.3447G>C (p.Thr1149=) | dbSNP ExAC gnomAD v2 |
18 | g.44953264G= | CA2300141334 | SETBP1 | c.3924G= (p.Thr1308=) c.4002G= (p.Thr1334=) c.3447G= (p.Thr1149=) | |
18 | g.44953264G>T | CA503982987 | SETBP1 | c.3924G>T (p.Thr1308=) c.4002G>T (p.Thr1334=) c.3447G>T (p.Thr1149=) | gnomAD v4 |
18 | g.44953265T>A | CA402325492 | SETBP1 | c.3925T>A (p.Tyr1309Asn) c.4003T>A (p.Tyr1335Asn) c.3448T>A (p.Tyr1150Asn) | |
18 | g.44953265T>C | CA299699959 | SETBP1 | c.3925T>C (p.Tyr1309His) c.4003T>C (p.Tyr1335His) c.3448T>C (p.Tyr1150His) | ClinVar dbSNP |
18 | g.44953265T>G | CA402325493 | SETBP1 | c.3925T>G (p.Tyr1309Asp) c.4003T>G (p.Tyr1335Asp) c.3448T>G (p.Tyr1150Asp) | |
18 | g.44953265T= | CA2300141335 | SETBP1 | c.3925T= (p.Tyr1309=) c.4003T= (p.Tyr1335=) c.3448T= (p.Tyr1150=) | |
18 | g.44953266A= | CA2300141336 | SETBP1 | c.3926A= (p.Tyr1309=) c.4004A= (p.Tyr1335=) c.3449A= (p.Tyr1150=) | |
18 | g.44953266A>C | CA402325494 | SETBP1 | c.3926A>C (p.Tyr1309Ser) c.4004A>C (p.Tyr1335Ser) c.3449A>C (p.Tyr1150Ser) | |
18 | g.44953266A>G | CA8946021 | SETBP1 | c.3926A>G (p.Tyr1309Cys) c.4004A>G (p.Tyr1335Cys) c.3449A>G (p.Tyr1150Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953266A>T | CA402325495 | SETBP1 | c.3926A>T (p.Tyr1309Phe) c.4004A>T (p.Tyr1335Phe) c.3449A>T (p.Tyr1150Phe) | |
18 | g.44953267C>A | CA402325496 | SETBP1 | c.3927C>A (p.Tyr1309Ter) c.4005C>A (p.Tyr1335Ter) c.3450C>A (p.Tyr1150Ter) | |
18 | g.44953267C>G | CA402325497 | SETBP1 | c.3927C>G (p.Tyr1309Ter) c.4005C>G (p.Tyr1335Ter) c.3450C>G (p.Tyr1150Ter) | |
18 | g.44953267C>T | CA503982993 | SETBP1 | c.3927C>T (p.Tyr1309=) c.4005C>T (p.Tyr1335=) c.3450C>T (p.Tyr1150=) | |
18 | g.44953268A= | CA2300141337 | SETBP1 | c.3928A= (p.Arg1310=) c.4006A= (p.Arg1336=) c.3451A= (p.Arg1151=) | |
18 | g.44953268A>C | CA503982994 | SETBP1 | c.3928A>C (p.Arg1310=) c.4006A>C (p.Arg1336=) c.3451A>C (p.Arg1151=) | |
18 | g.44953268A>G | CA402325498 | SETBP1 | c.3928A>G (p.Arg1310Gly) c.4006A>G (p.Arg1336Gly) c.3451A>G (p.Arg1151Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953268A>T | CA402325499 | SETBP1 | c.3928A>T (p.Arg1310Trp) c.4006A>T (p.Arg1336Trp) c.3451A>T (p.Arg1151Trp) | |
18 | g.44953269G>A | CA8946022 | SETBP1 | c.3929G>A (p.Arg1310Lys) c.4007G>A (p.Arg1336Lys) c.3452G>A (p.Arg1151Lys) | dbSNP ExAC gnomAD v2 |
18 | g.44953269G>C | CA402325500 | SETBP1 | c.3929G>C (p.Arg1310Thr) c.4007G>C (p.Arg1336Thr) c.3452G>C (p.Arg1151Thr) | |
18 | g.44953269G= | CA2300141338 | SETBP1 | c.3929G= (p.Arg1310=) c.4007G= (p.Arg1336=) c.3452G= (p.Arg1151=) | |
18 | g.44953269G>T | CA402325501 | SETBP1 | c.3929G>T (p.Arg1310Met) c.4007G>T (p.Arg1336Met) c.3452G>T (p.Arg1151Met) | |
18 | g.44953270G>A | CA503983001 | SETBP1 | c.3930G>A (p.Arg1310=) c.4008G>A (p.Arg1336=) c.3453G>A (p.Arg1151=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953270G>C | CA402325502 | SETBP1 | c.3930G>C (p.Arg1310Ser) c.4008G>C (p.Arg1336Ser) c.3453G>C (p.Arg1151Ser) | |
18 | g.44953270G= | CA2300141339 | SETBP1 | c.3930G= (p.Arg1310=) c.4008G= (p.Arg1336=) c.3453G= (p.Arg1151=) | |
18 | g.44953270G>T | CA402325503 | SETBP1 | c.3930G>T (p.Arg1310Ser) c.4008G>T (p.Arg1336Ser) c.3453G>T (p.Arg1151Ser) | |
18 | g.44953271G>A | CA402325504 | SETBP1 | c.3931G>A (p.Glu1311Lys) c.4009G>A (p.Glu1337Lys) c.3454G>A (p.Glu1152Lys) | gnomAD v4 |
18 | g.44953271G>C | CA402325505 | SETBP1 | c.3931G>C (p.Glu1311Gln) c.4009G>C (p.Glu1337Gln) c.3454G>C (p.Glu1152Gln) | |
18 | g.44953271G>T | CA402325506 | SETBP1 | c.3931G>T (p.Glu1311Ter) c.4009G>T (p.Glu1337Ter) c.3454G>T (p.Glu1152Ter) | |
18 | g.44953272A>C | CA402325507 | SETBP1 | c.3932A>C (p.Glu1311Ala) c.4010A>C (p.Glu1337Ala) c.3455A>C (p.Glu1152Ala) | ClinVar |
18 | g.44953272A>G | CA402325508 | SETBP1 | c.3932A>G (p.Glu1311Gly) c.4010A>G (p.Glu1337Gly) c.3455A>G (p.Glu1152Gly) | |
18 | g.44953272A>T | CA402325509 | SETBP1 | c.3932A>T (p.Glu1311Val) c.4010A>T (p.Glu1337Val) c.3455A>T (p.Glu1152Val) | |
18 | g.44953275del | CA2539144617 | SETBP1 | c.3935del (p.Lys1312ArgfsTer8) c.4013del (p.Lys1338ArgfsTer8) c.3458del (p.Lys1153ArgfsTer8) | |
18 | g.44953273A= | CA2300141340 | SETBP1 | c.3933A= (p.Glu1311=) c.4011A= (p.Glu1337=) c.3456A= (p.Glu1152=) | |
18 | g.44953273A>C | CA8946023 | SETBP1 | c.3933A>C (p.Glu1311Asp) c.4011A>C (p.Glu1337Asp) c.3456A>C (p.Glu1152Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44953273A>G | CA503983006 | SETBP1 | c.3933A>G (p.Glu1311=) c.4011A>G (p.Glu1337=) c.3456A>G (p.Glu1152=) | dbSNP gnomAD v4 |
18 | g.44953273A>T | CA402325510 | SETBP1 | c.3933A>T (p.Glu1311Asp) c.4011A>T (p.Glu1337Asp) c.3456A>T (p.Glu1152Asp) | |
18 | g.44953274A= | CA2300141341 | SETBP1 | c.3934A= (p.Lys1312=) c.4012A= (p.Lys1338=) c.3457A= (p.Lys1153=) | |
18 | g.44953274A>C | CA402325511 | SETBP1 | c.3934A>C (p.Lys1312Gln) c.4012A>C (p.Lys1338Gln) c.3457A>C (p.Lys1153Gln) | |
18 | g.44953274A>G | CA402325512 | SETBP1 | c.3934A>G (p.Lys1312Glu) c.4012A>G (p.Lys1338Glu) c.3457A>G (p.Lys1153Glu) | dbSNP |
18 | g.44953274A>T | CA402325513 | SETBP1 | c.3934A>T (p.Lys1312Ter) c.4012A>T (p.Lys1338Ter) c.3457A>T (p.Lys1153Ter) | |
18 | g.44953275A>C | CA402325514 | SETBP1 | c.3935A>C (p.Lys1312Thr) c.4013A>C (p.Lys1338Thr) c.3458A>C (p.Lys1153Thr) | gnomAD v4 |
18 | g.44953275A>G | CA402325515 | SETBP1 | c.3935A>G (p.Lys1312Arg) c.4013A>G (p.Lys1338Arg) c.3458A>G (p.Lys1153Arg) | gnomAD v4 |
18 | g.44953275A>T | CA402325516 | SETBP1 | c.3935A>T (p.Lys1312Met) c.4013A>T (p.Lys1338Met) c.3458A>T (p.Lys1153Met) | |
18 | g.44953276G>A | CA503983012 | SETBP1 | c.3936G>A (p.Lys1312=) c.4014G>A (p.Lys1338=) c.3459G>A (p.Lys1153=) | |
18 | g.44953276G>C | CA402325517 | SETBP1 | c.3936G>C (p.Lys1312Asn) c.4014G>C (p.Lys1338Asn) c.3459G>C (p.Lys1153Asn) | |
18 | g.44953276G>T | CA402325518 | SETBP1 | c.3936G>T (p.Lys1312Asn) c.4014G>T (p.Lys1338Asn) c.3459G>T (p.Lys1153Asn) | |
18 | g.44953277G>A | CA402325519 | SETBP1 | c.3937G>A (p.Asp1313Asn) c.4015G>A (p.Asp1339Asn) c.3460G>A (p.Asp1154Asn) | |
18 | g.44953277G>C | CA402325520 | SETBP1 | c.3937G>C (p.Asp1313His) c.4015G>C (p.Asp1339His) c.3460G>C (p.Asp1154His) | ClinVar dbSNP |
18 | g.44953277G>T | CA402325521 | SETBP1 | c.3937G>T (p.Asp1313Tyr) c.4015G>T (p.Asp1339Tyr) c.3460G>T (p.Asp1154Tyr) | |
18 | g.44953278A= | CA2300141342 | SETBP1 | c.3938A= (p.Asp1313=) c.4016A= (p.Asp1339=) c.3461A= (p.Asp1154=) | |
18 | g.44953278A>C | CA402325522 | SETBP1 | c.3938A>C (p.Asp1313Ala) c.4016A>C (p.Asp1339Ala) c.3461A>C (p.Asp1154Ala) | |
18 | g.44953278A>G | CA402325523 | SETBP1 | c.3938A>G (p.Asp1313Gly) c.4016A>G (p.Asp1339Gly) c.3461A>G (p.Asp1154Gly) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
18 | g.44953278A>T | CA8946024 | SETBP1 | c.3938A>T (p.Asp1313Val) c.4016A>T (p.Asp1339Val) c.3461A>T (p.Asp1154Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |