| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |
| 18 | g.44953279C>A | CA402325524 | SETBP1 | c.3939C>A (p.Asp1313Glu) c.4017C>A (p.Asp1339Glu) c.3462C>A (p.Asp1154Glu) | |
| 18 | g.44953279C>G | CA402325525 | SETBP1 | c.3939C>G (p.Asp1313Glu) c.4017C>G (p.Asp1339Glu) c.3462C>G (p.Asp1154Glu) | |
| 18 | g.44953279C>T | CA503983017 | SETBP1 | c.3939C>T (p.Asp1313=) c.4017C>T (p.Asp1339=) c.3462C>T (p.Asp1154=) | gnomAD v4 COSMIC |
| 18 | g.44953280A= | CA2300141343 | SETBP1 | c.3940A= (p.Ile1314=) c.4018A= (p.Ile1340=) c.3463A= (p.Ile1155=) | |
| 18 | g.44953280A>C | CA402325526 | SETBP1 | c.3940A>C (p.Ile1314Leu) c.4018A>C (p.Ile1340Leu) c.3463A>C (p.Ile1155Leu) | |
| 18 | g.44953280A>G | CA8946025 | SETBP1 | c.3940A>G (p.Ile1314Val) c.4018A>G (p.Ile1340Val) c.3463A>G (p.Ile1155Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.44953280A>T | CA8946026 | SETBP1 | c.3940A>T (p.Ile1314Phe) c.4018A>T (p.Ile1340Phe) c.3463A>T (p.Ile1155Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.44953281T>A | CA402325527 | SETBP1 | c.3941T>A (p.Ile1314Asn) c.4019T>A (p.Ile1340Asn) c.3464T>A (p.Ile1155Asn) | gnomAD v4 |
| 18 | g.44953281T>C | CA402325528 | SETBP1 | c.3941T>C (p.Ile1314Thr) c.4019T>C (p.Ile1340Thr) c.3464T>C (p.Ile1155Thr) | |
| 18 | g.44953281T>G | CA402325529 | SETBP1 | c.3941T>G (p.Ile1314Ser) c.4019T>G (p.Ile1340Ser) c.3464T>G (p.Ile1155Ser) | |
| 18 | g.44953282C>A | CA503983023 | SETBP1 | c.3942C>A (p.Ile1314=) c.4020C>A (p.Ile1340=) c.3465C>A (p.Ile1155=) | |
| 18 | g.44953282C>G | CA402325530 | SETBP1 | c.3942C>G (p.Ile1314Met) c.4020C>G (p.Ile1340Met) c.3465C>G (p.Ile1155Met) | |
| 18 | g.44953282C>T | CA503983024 | SETBP1 | c.3942C>T (p.Ile1314=) c.4020C>T (p.Ile1340=) c.3465C>T (p.Ile1155=) | gnomAD v4 |
| 18 | g.44953283C>A | CA402325531 | SETBP1 | c.3943C>A (p.Gln1315Lys) c.4021C>A (p.Gln1341Lys) c.3466C>A (p.Gln1156Lys) | |
| 18 | g.44953283C= | CA2300141344 | SETBP1 | c.3943C= (p.Gln1315=) c.4021C= (p.Gln1341=) c.3466C= (p.Gln1156=) | |
| 18 | g.44953283C>G | CA402325532 | SETBP1 | c.3943C>G (p.Gln1315Glu) c.4021C>G (p.Gln1341Glu) c.3466C>G (p.Gln1156Glu) | dbSNP |
| 18 | g.44953283C>T | CA402325533 | SETBP1 | c.3943C>T (p.Gln1315Ter) c.4021C>T (p.Gln1341Ter) c.3466C>T (p.Gln1156Ter) | |
| 18 | g.44953284A>C | CA402325534 | SETBP1 | c.3944A>C (p.Gln1315Pro) c.4022A>C (p.Gln1341Pro) c.3467A>C (p.Gln1156Pro) | |
| 18 | g.44953284A>G | CA402325535 | SETBP1 | c.3944A>G (p.Gln1315Arg) c.4022A>G (p.Gln1341Arg) c.3467A>G (p.Gln1156Arg) | |
| 18 | g.44953284A>T | CA402325536 | SETBP1 | c.3944A>T (p.Gln1315Leu) c.4022A>T (p.Gln1341Leu) c.3467A>T (p.Gln1156Leu) | |
| 18 | g.44953285del | CA2734971992 | SETBP1 | c.3945del (p.Ala1316ProfsTer4) c.4023del (p.Ala1342ProfsTer4) c.3468del (p.Ala1157ProfsTer4) | dbSNP |
| 18 | g.44953285A= | CA2300141345 | SETBP1 | c.3945A= (p.Gln1315=) c.4023A= (p.Gln1341=) c.3468A= (p.Gln1156=) | |
| 18 | g.44953285A>C | CA402325538 | SETBP1 | c.3945A>C (p.Gln1315His) c.4023A>C (p.Gln1341His) c.3468A>C (p.Gln1156His) | |
| 18 | g.44953285A>G | CA503983026 | SETBP1 | c.3945A>G (p.Gln1315=) c.4023A>G (p.Gln1341=) c.3468A>G (p.Gln1156=) | dbSNP |
| 18 | g.44953285A>T | CA402325537 | SETBP1 | c.3945A>T (p.Gln1315His) c.4023A>T (p.Gln1341His) c.3468A>T (p.Gln1156His) | |
| 18 | g.44953286del | CA2695227493 | SETBP1 | c.3946del (p.Ala1316ProfsTer4) c.4024del (p.Ala1342ProfsTer4) c.3469del (p.Ala1157ProfsTer4) | |
| 18 | g.44953286G>A | CA402325539 | SETBP1 | c.3946G>A (p.Ala1316Thr) c.4024G>A (p.Ala1342Thr) c.3469G>A (p.Ala1157Thr) | |
| 18 | g.44953286G>C | CA402325541 | SETBP1 | c.3946G>C (p.Ala1316Pro) c.4024G>C (p.Ala1342Pro) c.3469G>C (p.Ala1157Pro) | gnomAD v4 |
| 18 | g.44953286G>T | CA402325540 | SETBP1 | c.3946G>T (p.Ala1316Ser) c.4024G>T (p.Ala1342Ser) c.3469G>T (p.Ala1157Ser) | ClinVar |
| 18 | g.44953287C>A | CA299699990 | SETBP1 | c.3947C>A (p.Ala1316Asp) c.4025C>A (p.Ala1342Asp) c.3470C>A (p.Ala1157Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.44953287C= | CA2300141346 | SETBP1 | c.3947C= (p.Ala1316=) c.4025C= (p.Ala1342=) c.3470C= (p.Ala1157=) | |
| 18 | g.44953287C>G | CA402325542 | SETBP1 | c.3947C>G (p.Ala1316Gly) c.4025C>G (p.Ala1342Gly) c.3470C>G (p.Ala1157Gly) | |
| 18 | g.44953287C>T | CA402325543 | SETBP1 | c.3947C>T (p.Ala1316Val) c.4025C>T (p.Ala1342Val) c.3470C>T (p.Ala1157Val) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.44953288C>A | CA503983031 | SETBP1 | c.3948C>A (p.Ala1316=) c.4026C>A (p.Ala1342=) c.3471C>A (p.Ala1157=) | |
| 18 | g.44953288C= | CA2300141347 | SETBP1 | c.3948C= (p.Ala1316=) c.4026C= (p.Ala1342=) c.3471C= (p.Ala1157=) | |
| 18 | g.44953288C>G | CA503983033 | SETBP1 | c.3948C>G (p.Ala1316=) c.4026C>G (p.Ala1342=) c.3471C>G (p.Ala1157=) | |
| 18 | g.44953288C>T | CA8946027 | SETBP1 | c.3948C>T (p.Ala1316=) c.4026C>T (p.Ala1342=) c.3471C>T (p.Ala1157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.44953289T>A | CA402325544 | SETBP1 | c.3949T>A (p.Phe1317Ile) c.4027T>A (p.Phe1343Ile) c.3472T>A (p.Phe1158Ile) | |
| 18 | g.44953289T>C | CA402325545 | SETBP1 | c.3949T>C (p.Phe1317Leu) c.4027T>C (p.Phe1343Leu) c.3472T>C (p.Phe1158Leu) | |
| 18 | g.44953289T>G | CA402325546 | SETBP1 | c.3949T>G (p.Phe1317Val) c.4027T>G (p.Phe1343Val) c.3472T>G (p.Phe1158Val) | |
| 18 | g.44953290T>A | CA402325549 | SETBP1 | c.3950T>A (p.Phe1317Tyr) c.4028T>A (p.Phe1343Tyr) c.3473T>A (p.Phe1158Tyr) | |
| 18 | g.44953290T>C | CA402325547 | SETBP1 | c.3950T>C (p.Phe1317Ser) c.4028T>C (p.Phe1343Ser) c.3473T>C (p.Phe1158Ser) | |
| 18 | g.44953290T>G | CA402325548 | SETBP1 | c.3950T>G (p.Phe1317Cys) c.4028T>G (p.Phe1343Cys) c.3473T>G (p.Phe1158Cys) | |
| 18 | g.44953291C>A | CA402325550 | SETBP1 | c.3951C>A (p.Phe1317Leu) c.4029C>A (p.Phe1343Leu) c.3474C>A (p.Phe1158Leu) | |
| 18 | g.44953291C= | CA2300141348 | SETBP1 | c.3951C= (p.Phe1317=) c.4029C= (p.Phe1343=) c.3474C= (p.Phe1158=) | |
| 18 | g.44953291C>G | CA8946028 | SETBP1 | c.3951C>G (p.Phe1317Leu) c.4029C>G (p.Phe1343Leu) c.3474C>G (p.Phe1158Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.44953291C>T | CA503983037 | SETBP1 | c.3951C>T (p.Phe1317=) c.4029C>T (p.Phe1343=) c.3474C>T (p.Phe1158=) | dbSNP |
| 18 | g.44953292A>C | CA402325551 | SETBP1 | c.3952A>C (p.Lys1318Gln) c.4030A>C (p.Lys1344Gln) c.3475A>C (p.Lys1159Gln) | |
| 18 | g.44953292A>G | CA402325552 | SETBP1 | c.3952A>G (p.Lys1318Glu) c.4030A>G (p.Lys1344Glu) c.3475A>G (p.Lys1159Glu) | |
| 18 | g.44953292A>T | CA402325553 | SETBP1 | c.3952A>T (p.Lys1318Ter) c.4030A>T (p.Lys1344Ter) c.3475A>T (p.Lys1159Ter) | |
| 18 | g.44953293A>C | CA402325554 | SETBP1 | c.3953A>C (p.Lys1318Thr) c.4031A>C (p.Lys1344Thr) c.3476A>C (p.Lys1159Thr) | |
| 18 | g.44953293A>G | CA402325556 | SETBP1 | c.3953A>G (p.Lys1318Arg) c.4031A>G (p.Lys1344Arg) c.3476A>G (p.Lys1159Arg) | |
| 18 | g.44953293A>T | CA402325555 | SETBP1 | c.3953A>T (p.Lys1318Met) c.4031A>T (p.Lys1344Met) c.3476A>T (p.Lys1159Met) | |
| 18 | g.44953294G>A | CA503983041 | SETBP1 | c.3954G>A (p.Lys1318=) c.4032G>A (p.Lys1344=) c.3477G>A (p.Lys1159=) | |
| 18 | g.44953294G>C | CA402325557 | SETBP1 | c.3954G>C (p.Lys1318Asn) c.4032G>C (p.Lys1344Asn) c.3477G>C (p.Lys1159Asn) | |
| 18 | g.44953294G>T | CA402325558 | SETBP1 | c.3954G>T (p.Lys1318Asn) c.4032G>T (p.Lys1344Asn) c.3477G>T (p.Lys1159Asn) | |
| 18 | g.44953295A= | CA2300141349 | SETBP1 | c.3955A= (p.Met1319=) c.4033A= (p.Met1345=) c.3478A= (p.Met1160=) | |
| 18 | g.44953295A>C | CA402325559 | SETBP1 | c.3955A>C (p.Met1319Leu) c.4033A>C (p.Met1345Leu) c.3478A>C (p.Met1160Leu) | |
| 18 | g.44953295A>G | CA8946029 | SETBP1 | c.3955A>G (p.Met1319Val) c.4033A>G (p.Met1345Val) c.3478A>G (p.Met1160Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.44953295A>T | CA402325560 | SETBP1 | c.3955A>T (p.Met1319Leu) c.4033A>T (p.Met1345Leu) c.3478A>T (p.Met1160Leu) | |
| 18 | g.44953296T>A | CA402325561 | SETBP1 | c.3956T>A (p.Met1319Lys) c.4034T>A (p.Met1345Lys) c.3479T>A (p.Met1160Lys) | |
| 18 | g.44953296T>C | CA8946030 | SETBP1 | c.3956T>C (p.Met1319Thr) c.4034T>C (p.Met1345Thr) c.3479T>C (p.Met1160Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.44953296T>G | CA402325562 | SETBP1 | c.3956T>G (p.Met1319Arg) c.4034T>G (p.Met1345Arg) c.3479T>G (p.Met1160Arg) | |
| 18 | g.44953296T= | CA2300141350 | SETBP1 | c.3956T= (p.Met1319=) c.4034T= (p.Met1345=) c.3479T= (p.Met1160=) | |
| 18 | g.44953298_44953349dup | CA2641600975 | SETBP1 | c.3958_4000+9dup c.4036_4078+9dup c.3481_3523+9dup | gnomAD v4 |
| 18 | g.44953297G>A | CA402325563 | SETBP1 | c.3957G>A (p.Met1319Ile) c.4035G>A (p.Met1345Ile) c.3480G>A (p.Met1160Ile) | ClinVar dbSNP |
| 18 | g.44953297G>C | CA402325564 | SETBP1 | c.3957G>C (p.Met1319Ile) c.4035G>C (p.Met1345Ile) c.3480G>C (p.Met1160Ile) | |
| 18 | g.44953297G>T | CA402325565 | SETBP1 | c.3957G>T (p.Met1319Ile) c.4035G>T (p.Met1345Ile) c.3480G>T (p.Met1160Ile) | |
| 18 | g.44953298A= | CA2300141351 | SETBP1 | c.3958A= (p.Asn1320=) c.4036A= (p.Asn1346=) c.3481A= (p.Asn1161=) | |
| 18 | g.44953298A>C | CA402325566 | SETBP1 | c.3958A>C (p.Asn1320His) c.4036A>C (p.Asn1346His) c.3481A>C (p.Asn1161His) | |
| 18 | g.44953298A>G | CA402325568 | SETBP1 | c.3958A>G (p.Asn1320Asp) c.4036A>G (p.Asn1346Asp) c.3481A>G (p.Asn1161Asp) | |
| 18 | g.44953298A>T | CA402325567 | SETBP1 | c.3958A>T (p.Asn1320Tyr) c.4036A>T (p.Asn1346Tyr) c.3481A>T (p.Asn1161Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.44953299A>C | CA402325569 | SETBP1 | c.3959A>C (p.Asn1320Thr) c.4037A>C (p.Asn1346Thr) c.3482A>C (p.Asn1161Thr) | |
| 18 | g.44953299A>G | CA402325570 | SETBP1 | c.3959A>G (p.Asn1320Ser) c.4037A>G (p.Asn1346Ser) c.3482A>G (p.Asn1161Ser) | |
| 18 | g.44953299A>T | CA402325571 | SETBP1 | c.3959A>T (p.Asn1320Ile) c.4037A>T (p.Asn1346Ile) c.3482A>T (p.Asn1161Ile) | |
| 18 | g.44953300C>A | CA402325572 | SETBP1 | c.3960C>A (p.Asn1320Lys) c.4038C>A (p.Asn1346Lys) c.3483C>A (p.Asn1161Lys) | gnomAD v4 |
| 18 | g.44953300C= | CA2300141352 | SETBP1 | c.3960C= (p.Asn1320=) c.4038C= (p.Asn1346=) c.3483C= (p.Asn1161=) | |
| 18 | g.44953300C>G | CA402325573 | SETBP1 | c.3960C>G (p.Asn1320Lys) c.4038C>G (p.Asn1346Lys) c.3483C>G (p.Asn1161Lys) | gnomAD v4 |
| 18 | g.44953300C>T | CA8946031 | SETBP1 | c.3960C>T (p.Asn1320=) c.4038C>T (p.Asn1346=) c.3483C>T (p.Asn1161=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.44953301C>A | CA402325574 | SETBP1 | c.3961C>A (p.Arg1321Ser) c.4039C>A (p.Arg1347Ser) c.3484C>A (p.Arg1162Ser) | |
| 18 | g.44953301C= | CA2300141353 | SETBP1 | c.3961C= (p.Arg1321=) c.4039C= (p.Arg1347=) c.3484C= (p.Arg1162=) | |
| 18 | g.44953301C>G | CA402325575 | SETBP1 | c.3961C>G (p.Arg1321Gly) c.4039C>G (p.Arg1347Gly) c.3484C>G (p.Arg1162Gly) | |
| 18 | g.44953301C>T | CA8946032 | SETBP1 | c.3961C>T (p.Arg1321Cys) c.4039C>T (p.Arg1347Cys) c.3484C>T (p.Arg1162Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.44953302G>A | CA8946033 | SETBP1 | c.3962G>A (p.Arg1321His) c.4040G>A (p.Arg1347His) c.3485G>A (p.Arg1162His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.44953302G>C | CA402325576 | SETBP1 | c.3962G>C (p.Arg1321Pro) c.4040G>C (p.Arg1347Pro) c.3485G>C (p.Arg1162Pro) | |
| 18 | g.44953302G= | CA2300141354 | SETBP1 | c.3962G= (p.Arg1321=) c.4040G= (p.Arg1347=) c.3485G= (p.Arg1162=) | |
| 18 | g.44953302G>T | CA8946034 | SETBP1 | c.3962G>T (p.Arg1321Leu) c.4040G>T (p.Arg1347Leu) c.3485G>T (p.Arg1162Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.44953303C>A | CA503983048 | SETBP1 | c.3963C>A (p.Arg1321=) c.4041C>A (p.Arg1347=) c.3486C>A (p.Arg1162=) | gnomAD v4 |
| 18 | g.44953303C>G | CA503983049 | SETBP1 | c.3963C>G (p.Arg1321=) c.4041C>G (p.Arg1347=) c.3486C>G (p.Arg1162=) | |
| 18 | g.44953303C>T | CA503983050 | SETBP1 | c.3963C>T (p.Arg1321=) c.4041C>T (p.Arg1347=) c.3486C>T (p.Arg1162=) | |
| 18 | g.44953304A>C | CA402325579 | SETBP1 | c.3964A>C (p.Lys1322Gln) c.4042A>C (p.Lys1348Gln) c.3487A>C (p.Lys1163Gln) | |
| 18 | g.44953304A>G | CA402325577 | SETBP1 | c.3964A>G (p.Lys1322Glu) c.4042A>G (p.Lys1348Glu) c.3487A>G (p.Lys1163Glu) | |
| 18 | g.44953304A>T | CA402325578 | SETBP1 | c.3964A>T (p.Lys1322Ter) c.4042A>T (p.Lys1348Ter) c.3487A>T (p.Lys1163Ter) | |
| 18 | g.44953305A>C | CA402325580 | SETBP1 | c.3965A>C (p.Lys1322Thr) c.4043A>C (p.Lys1348Thr) c.3488A>C (p.Lys1163Thr) | |
| 18 | g.44953305A>G | CA402325581 | SETBP1 | c.3965A>G (p.Lys1322Arg) c.4043A>G (p.Lys1348Arg) c.3488A>G (p.Lys1163Arg) | |
| 18 | g.44953305A>T | CA402325582 | SETBP1 | c.3965A>T (p.Lys1322Met) c.4043A>T (p.Lys1348Met) c.3488A>T (p.Lys1163Met) | |
| 18 | g.44953306G>A | CA503983052 | SETBP1 | c.3966G>A (p.Lys1322=) c.4044G>A (p.Lys1348=) c.3489G>A (p.Lys1163=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.44953306G>C | CA402325583 | SETBP1 | c.3966G>C (p.Lys1322Asn) c.4044G>C (p.Lys1348Asn) c.3489G>C (p.Lys1163Asn) | |
| 18 | g.44953306G= | CA2300141355 | SETBP1 | c.3966G= (p.Lys1322=) c.4044G= (p.Lys1348=) c.3489G= (p.Lys1163=) | |
| 18 | g.44953306G>T | CA402325584 | SETBP1 | c.3966G>T (p.Lys1322Asn) c.4044G>T (p.Lys1348Asn) c.3489G>T (p.Lys1163Asn) | |
| 18 | g.44953307G>A | CA402325585 | SETBP1 | c.3967G>A (p.Glu1323Lys) c.4045G>A (p.Glu1349Lys) c.3490G>A (p.Glu1164Lys) | |
| 18 | g.44953307G>C | CA402325586 | SETBP1 | c.3967G>C (p.Glu1323Gln) c.4045G>C (p.Glu1349Gln) c.3490G>C (p.Glu1164Gln) | |
| 18 | g.44953307G>T | CA402325587 | SETBP1 | c.3967G>T (p.Glu1323Ter) c.4045G>T (p.Glu1349Ter) c.3490G>T (p.Glu1164Ter) | |
| 18 | g.44953308A>C | CA402325588 | SETBP1 | c.3968A>C (p.Glu1323Ala) c.4046A>C (p.Glu1349Ala) c.3491A>C (p.Glu1164Ala) | |
| 18 | g.44953308A>G | CA402325589 | SETBP1 | c.3968A>G (p.Glu1323Gly) c.4046A>G (p.Glu1349Gly) c.3491A>G (p.Glu1164Gly) | |
| 18 | g.44953308A>T | CA402325590 | SETBP1 | c.3968A>T (p.Glu1323Val) c.4046A>T (p.Glu1349Val) c.3491A>T (p.Glu1164Val) | |
| 18 | g.44953309G>A | CA8946035 | SETBP1 | c.3969G>A (p.Glu1323=) c.4047G>A (p.Glu1349=) c.3492G>A (p.Glu1164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.44953309G>C | CA402325592 | SETBP1 | c.3969G>C (p.Glu1323Asp) c.4047G>C (p.Glu1349Asp) c.3492G>C (p.Glu1164Asp) | gnomAD v4 |
| 18 | g.44953309G= | CA2300141356 | SETBP1 | c.3969G= (p.Glu1323=) c.4047G= (p.Glu1349=) c.3492G= (p.Glu1164=) | |
| 18 | g.44953309G>T | CA402325591 | SETBP1 | c.3969G>T (p.Glu1323Asp) c.4047G>T (p.Glu1349Asp) c.3492G>T (p.Glu1164Asp) | |
| 18 | g.44953310A= | CA2300141357 | SETBP1 | c.3970A= (p.Arg1324=) c.4048A= (p.Arg1350=) c.3493A= (p.Arg1165=) | |
| 18 | g.44953310A>C | CA503983056 | SETBP1 | c.3970A>C (p.Arg1324=) c.4048A>C (p.Arg1350=) c.3493A>C (p.Arg1165=) | |
| 18 | g.44953310A>G | CA402325594 | SETBP1 | c.3970A>G (p.Arg1324Gly) c.4048A>G (p.Arg1350Gly) c.3493A>G (p.Arg1165Gly) | dbSNP |
| 18 | g.44953310A>T | CA402325593 | SETBP1 | c.3970A>T (p.Arg1324Ter) c.4048A>T (p.Arg1350Ter) c.3493A>T (p.Arg1165Ter) | |
| 18 | g.44953311G>A | CA402325597 | SETBP1 | c.3971G>A (p.Arg1324Lys) c.4049G>A (p.Arg1350Lys) c.3494G>A (p.Arg1165Lys) | ClinVar gnomAD v4 |
| 18 | g.44953311G>C | CA402325595 | SETBP1 | c.3971G>C (p.Arg1324Thr) c.4049G>C (p.Arg1350Thr) c.3494G>C (p.Arg1165Thr) | |
| 18 | g.44953311G>T | CA402325596 | SETBP1 | c.3971G>T (p.Arg1324Ile) c.4049G>T (p.Arg1350Ile) c.3494G>T (p.Arg1165Ile) | |
| 18 | g.44953312A>C | CA402325598 | SETBP1 | c.3972A>C (p.Arg1324Ser) c.4050A>C (p.Arg1350Ser) c.3495A>C (p.Arg1165Ser) | gnomAD v4 |
| 18 | g.44953312A>G | CA503983058 | SETBP1 | c.3972A>G (p.Arg1324=) c.4050A>G (p.Arg1350=) c.3495A>G (p.Arg1165=) | gnomAD v4 |
| 18 | g.44953312A>T | CA402325599 | SETBP1 | c.3972A>T (p.Arg1324Ser) c.4050A>T (p.Arg1350Ser) c.3495A>T (p.Arg1165Ser) | |
| 18 | g.44953313A= | CA2300141358 | SETBP1 | c.3973A= (p.Ser1325=) c.4051A= (p.Ser1351=) c.3496A= (p.Ser1166=) | |
| 18 | g.44953313A>C | CA402325600 | SETBP1 | c.3973A>C (p.Ser1325Arg) c.4051A>C (p.Ser1351Arg) c.3496A>C (p.Ser1166Arg) | |
| 18 | g.44953313A>G | CA402325601 | SETBP1 | c.3973A>G (p.Ser1325Gly) c.4051A>G (p.Ser1351Gly) c.3496A>G (p.Ser1166Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.44953313A>T | CA402325602 | SETBP1 | c.3973A>T (p.Ser1325Cys) c.4051A>T (p.Ser1351Cys) c.3496A>T (p.Ser1166Cys) | |
| 18 | g.44953313_44953321del | CA645613028 | SETBP1 | c.3973_3981del (p.Ser1325_Tyr1327del) c.4051_4059del (p.Ser1351_Tyr1353del) c.3496_3504del (p.Ser1166_Tyr1168del) | COSMIC COSMIC |
| 18 | g.44953314G>A | CA402325603 | SETBP1 | c.3974G>A (p.Ser1325Asn) c.4052G>A (p.Ser1351Asn) c.3497G>A (p.Ser1166Asn) | ClinVar |
| 18 | g.44953314G>C | CA402325604 | SETBP1 | c.3974G>C (p.Ser1325Thr) c.4052G>C (p.Ser1351Thr) c.3497G>C (p.Ser1166Thr) | |
| 18 | g.44953314G>T | CA402325605 | SETBP1 | c.3974G>T (p.Ser1325Ile) c.4052G>T (p.Ser1351Ile) c.3497G>T (p.Ser1166Ile) | |
| 18 | g.44953315T>A | CA8946036 | SETBP1 | c.3975T>A (p.Ser1325Arg) c.4053T>A (p.Ser1351Arg) c.3498T>A (p.Ser1166Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.44953315T>C | CA503983060 | SETBP1 | c.3975T>C (p.Ser1325=) c.4053T>C (p.Ser1351=) c.3498T>C (p.Ser1166=) | |
| 18 | g.44953315T>G | CA402325606 | SETBP1 | c.3975T>G (p.Ser1325Arg) c.4053T>G (p.Ser1351Arg) c.3498T>G (p.Ser1166Arg) | |
| 18 | g.44953315T= | CA2300141359 | SETBP1 | c.3975T= (p.Ser1325=) c.4053T= (p.Ser1351=) c.3498T= (p.Ser1166=) | |
| 18 | g.44953316T>A | CA402325609 | SETBP1 | c.3976T>A (p.Ser1326Thr) c.4054T>A (p.Ser1352Thr) c.3499T>A (p.Ser1167Thr) | |
| 18 | g.44953316T>C | CA402325607 | SETBP1 | c.3976T>C (p.Ser1326Pro) c.4054T>C (p.Ser1352Pro) c.3499T>C (p.Ser1167Pro) | |
| 18 | g.44953316T>G | CA402325608 | SETBP1 | c.3976T>G (p.Ser1326Ala) c.4054T>G (p.Ser1352Ala) c.3499T>G (p.Ser1167Ala) | |
| 18 | g.44953317C>A | CA402325610 | SETBP1 | c.3977C>A (p.Ser1326Tyr) c.4055C>A (p.Ser1352Tyr) c.3500C>A (p.Ser1167Tyr) | |
| 18 | g.44953317C= | CA2300141360 | SETBP1 | c.3977C= (p.Ser1326=) c.4055C= (p.Ser1352=) c.3500C= (p.Ser1167=) | |
| 18 | g.44953317C>G | CA402325611 | SETBP1 | c.3977C>G (p.Ser1326Cys) c.4055C>G (p.Ser1352Cys) c.3500C>G (p.Ser1167Cys) | |
| 18 | g.44953317C>T | CA402325612 | SETBP1 | c.3977C>T (p.Ser1326Phe) c.4055C>T (p.Ser1352Phe) c.3500C>T (p.Ser1167Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.44953318T>A | CA503983062 | SETBP1 | c.3978T>A (p.Ser1326=) c.4056T>A (p.Ser1352=) c.3501T>A (p.Ser1167=) | |
| 18 | g.44953318T>C | CA503983064 | SETBP1 | c.3978T>C (p.Ser1326=) c.4056T>C (p.Ser1352=) c.3501T>C (p.Ser1167=) | |
| 18 | g.44953318T>G | CA503983063 | SETBP1 | c.3978T>G (p.Ser1326=) c.4056T>G (p.Ser1352=) c.3501T>G (p.Ser1167=) | |
| 18 | g.44953319T>A | CA402325613 | SETBP1 | c.3979T>A (p.Tyr1327Asn) c.4057T>A (p.Tyr1353Asn) c.3502T>A (p.Tyr1168Asn) | |
| 18 | g.44953319T>C | CA8946037 | SETBP1 | c.3979T>C (p.Tyr1327His) c.4057T>C (p.Tyr1353His) c.3502T>C (p.Tyr1168His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.44953319T>G | CA402325614 | SETBP1 | c.3979T>G (p.Tyr1327Asp) c.4057T>G (p.Tyr1353Asp) c.3502T>G (p.Tyr1168Asp) | |
| 18 | g.44953319T= | CA2300141361 | SETBP1 | c.3979T= (p.Tyr1327=) c.4057T= (p.Tyr1353=) c.3502T= (p.Tyr1168=) | |
| 18 | g.44953320A= | CA2300141362 | SETBP1 | c.3980A= (p.Tyr1327=) c.4058A= (p.Tyr1353=) c.3503A= (p.Tyr1168=) | |
| 18 | g.44953320A>C | CA402325615 | SETBP1 | c.3980A>C (p.Tyr1327Ser) c.4058A>C (p.Tyr1353Ser) c.3503A>C (p.Tyr1168Ser) | |
| 18 | g.44953320A>G | CA402325616 | SETBP1 | c.3980A>G (p.Tyr1327Cys) c.4058A>G (p.Tyr1353Cys) c.3503A>G (p.Tyr1168Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.44953320A>T | CA8946038 | SETBP1 | c.3980A>T (p.Tyr1327Phe) c.4058A>T (p.Tyr1353Phe) c.3503A>T (p.Tyr1168Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.44953321T>A | CA402325617 | SETBP1 | c.3981T>A (p.Tyr1327Ter) c.4059T>A (p.Tyr1353Ter) c.3504T>A (p.Tyr1168Ter) | |
| 18 | g.44953321T>C | CA503983068 | SETBP1 | c.3981T>C (p.Tyr1327=) c.4059T>C (p.Tyr1353=) c.3504T>C (p.Tyr1168=) | gnomAD v4 |
| 18 | g.44953321T>G | CA402325618 | SETBP1 | c.3981T>G (p.Tyr1327Ter) c.4059T>G (p.Tyr1353Ter) c.3504T>G (p.Tyr1168Ter) | |
| 18 | g.44953322G>A | CA402325620 | SETBP1 | c.3982G>A (p.Asp1328Asn) c.4060G>A (p.Asp1354Asn) c.3505G>A (p.Asp1169Asn) | ClinVar COSMIC |
| 18 | g.44953322G>C | CA402325621 | SETBP1 | c.3982G>C (p.Asp1328His) c.4060G>C (p.Asp1354His) c.3505G>C (p.Asp1169His) | |
| 18 | g.44953322G>T | CA402325619 | SETBP1 | c.3982G>T (p.Asp1328Tyr) c.4060G>T (p.Asp1354Tyr) c.3505G>T (p.Asp1169Tyr) | |
| 18 | g.44953323A>C | CA402325622 | SETBP1 | c.3983A>C (p.Asp1328Ala) c.4061A>C (p.Asp1354Ala) c.3506A>C (p.Asp1169Ala) | |
| 18 | g.44953323A>G | CA402325623 | SETBP1 | c.3983A>G (p.Asp1328Gly) c.4061A>G (p.Asp1354Gly) c.3506A>G (p.Asp1169Gly) | |
| 18 | g.44953323A>T | CA402325624 | SETBP1 | c.3983A>T (p.Asp1328Val) c.4061A>T (p.Asp1354Val) c.3506A>T (p.Asp1169Val) | |
| 18 | g.44953324C>A | CA402325625 | SETBP1 | c.3984C>A (p.Asp1328Glu) c.4062C>A (p.Asp1354Glu) c.3507C>A (p.Asp1169Glu) | |
| 18 | g.44953324C= | CA2300141363 | SETBP1 | c.3984C= (p.Asp1328=) c.4062C= (p.Asp1354=) c.3507C= (p.Asp1169=) | |
| 18 | g.44953324C>G | CA402325626 | SETBP1 | c.3984C>G (p.Asp1328Glu) c.4062C>G (p.Asp1354Glu) c.3507C>G (p.Asp1169Glu) | |
| 18 | g.44953324C>T | CA8946039 | SETBP1 | c.3984C>T (p.Asp1328=) c.4062C>T (p.Asp1354=) c.3507C>T (p.Asp1169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.44953325T>A | CA402325627 | SETBP1 | c.3985T>A (p.Ser1329Thr) c.4063T>A (p.Ser1355Thr) c.3508T>A (p.Ser1170Thr) | |
| 18 | g.44953325T>C | CA402325628 | SETBP1 | c.3985T>C (p.Ser1329Pro) c.4063T>C (p.Ser1355Pro) c.3508T>C (p.Ser1170Pro) | COSMIC |
| 18 | g.44953325T>G | CA402325629 | SETBP1 | c.3985T>G (p.Ser1329Ala) c.4063T>G (p.Ser1355Ala) c.3508T>G (p.Ser1170Ala) | |
| 18 | g.44953326C>A | CA402325630 | SETBP1 | c.3986C>A (p.Ser1329Tyr) c.4064C>A (p.Ser1355Tyr) c.3509C>A (p.Ser1170Tyr) | gnomAD v4 |
| 18 | g.44953326C>G | CA402325631 | SETBP1 | c.3986C>G (p.Ser1329Cys) c.4064C>G (p.Ser1355Cys) c.3509C>G (p.Ser1170Cys) | gnomAD v4 |
| 18 | g.44953326C>T | CA402325632 | SETBP1 | c.3986C>T (p.Ser1329Phe) c.4064C>T (p.Ser1355Phe) c.3509C>T (p.Ser1170Phe) | |
| 18 | g.44953327C>A | CA503983076 | SETBP1 | c.3987C>A (p.Ser1329=) c.4065C>A (p.Ser1355=) c.3510C>A (p.Ser1170=) | gnomAD v4 |
| 18 | g.44953327C= | CA2300141364 | SETBP1 | c.3987C= (p.Ser1329=) c.4065C= (p.Ser1355=) c.3510C= (p.Ser1170=) | |
| 18 | g.44953327C>G | CA503983074 | SETBP1 | c.3987C>G (p.Ser1329=) c.4065C>G (p.Ser1355=) c.3510C>G (p.Ser1170=) | |
| 18 | g.44953327C>T | CA503983075 | SETBP1 | c.3987C>T (p.Ser1329=) c.4065C>T (p.Ser1355=) c.3510C>T (p.Ser1170=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.44953328T>A | CA402325634 | SETBP1 | c.3988T>A (p.Ser1330Thr) c.4066T>A (p.Ser1356Thr) c.3511T>A (p.Ser1171Thr) | COSMIC |
| 18 | g.44953328T>C | CA402325635 | SETBP1 | c.3988T>C (p.Ser1330Pro) c.4066T>C (p.Ser1356Pro) c.3511T>C (p.Ser1171Pro) | gnomAD v4 |
| 18 | g.44953328T>G | CA402325633 | SETBP1 | c.3988T>G (p.Ser1330Ala) c.4066T>G (p.Ser1356Ala) c.3511T>G (p.Ser1171Ala) | |
| 18 | g.44953329C>A | CA402325636 | SETBP1 | c.3989C>A (p.Ser1330Tyr) c.4067C>A (p.Ser1356Tyr) c.3512C>A (p.Ser1171Tyr) | |
| 18 | g.44953329C>G | CA402325637 | SETBP1 | c.3989C>G (p.Ser1330Cys) c.4067C>G (p.Ser1356Cys) c.3512C>G (p.Ser1171Cys) | gnomAD v4 |
| 18 | g.44953329C>T | CA402325638 | SETBP1 | c.3989C>T (p.Ser1330Phe) c.4067C>T (p.Ser1356Phe) c.3512C>T (p.Ser1171Phe) | gnomAD v4 |
| 18 | g.44953330C>A | CA503983080 | SETBP1 | c.3990C>A (p.Ser1330=) c.4068C>A (p.Ser1356=) c.3513C>A (p.Ser1171=) | |
| 18 | g.44953330C>G | CA503983081 | SETBP1 | c.3990C>G (p.Ser1330=) c.4068C>G (p.Ser1356=) c.3513C>G (p.Ser1171=) | |
| 18 | g.44953330C>T | CA503983082 | SETBP1 | c.3990C>T (p.Ser1330=) c.4068C>T (p.Ser1356=) c.3513C>T (p.Ser1171=) | gnomAD v4 |
| 18 | g.44953331A= | CA2300141365 | SETBP1 | c.3991A= (p.Met1331=) c.4069A= (p.Met1357=) c.3514A= (p.Met1172=) | |
| 18 | g.44953331A>C | CA402325639 | SETBP1 | c.3991A>C (p.Met1331Leu) c.4069A>C (p.Met1357Leu) c.3514A>C (p.Met1172Leu) | |
| 18 | g.44953331A>G | CA402325640 | SETBP1 | c.3991A>G (p.Met1331Val) c.4069A>G (p.Met1357Val) c.3514A>G (p.Met1172Val) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.44953331A>T | CA402325641 | SETBP1 | c.3991A>T (p.Met1331Leu) c.4069A>T (p.Met1357Leu) c.3514A>T (p.Met1172Leu) | |
| 18 | g.44953332T>A | CA402325644 | SETBP1 | c.3992T>A (p.Met1331Lys) c.4070T>A (p.Met1357Lys) c.3515T>A (p.Met1172Lys) | |
| 18 | g.44953332T>C | CA402325642 | SETBP1 | c.3992T>C (p.Met1331Thr) c.4070T>C (p.Met1357Thr) c.3515T>C (p.Met1172Thr) | ClinVar gnomAD v4 |
| 18 | g.44953332T>G | CA402325643 | SETBP1 | c.3992T>G (p.Met1331Arg) c.4070T>G (p.Met1357Arg) c.3515T>G (p.Met1172Arg) | |
| 18 | g.44953333G>A | CA402325645 | SETBP1 | c.3993G>A (p.Met1331Ile) c.4071G>A (p.Met1357Ile) c.3516G>A (p.Met1172Ile) | |
| 18 | g.44953333G>C | CA402325646 | SETBP1 | c.3993G>C (p.Met1331Ile) c.4071G>C (p.Met1357Ile) c.3516G>C (p.Met1172Ile) | |
| 18 | g.44953333G= | CA2300141366 | SETBP1 | c.3993G= (p.Met1331=) c.4071G= (p.Met1357=) c.3516G= (p.Met1172=) | |
| 18 | g.44953333G>T | CA8946040 | SETBP1 | c.3993G>T (p.Met1331Ile) c.4071G>T (p.Met1357Ile) c.3516G>T (p.Met1172Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.44953334T>A | CA402325647 | SETBP1 | c.3994T>A (p.Ser1332Thr) c.4072T>A (p.Ser1358Thr) c.3517T>A (p.Ser1173Thr) | |
| 18 | g.44953334T>C | CA402325648 | SETBP1 | c.3994T>C (p.Ser1332Pro) c.4072T>C (p.Ser1358Pro) c.3517T>C (p.Ser1173Pro) | dbSNP |
| 18 | g.44953334T>G | CA402325649 | SETBP1 | c.3994T>G (p.Ser1332Ala) c.4072T>G (p.Ser1358Ala) c.3517T>G (p.Ser1173Ala) | |
| 18 | g.44953334T= | CA2300141367 | SETBP1 | c.3994T= (p.Ser1332=) c.4072T= (p.Ser1358=) c.3517T= (p.Ser1173=) | |
| 18 | g.44953335C>A | CA402325651 | SETBP1 | c.3995C>A (p.Ser1332Tyr) c.4073C>A (p.Ser1358Tyr) c.3518C>A (p.Ser1173Tyr) | gnomAD v4 |
| 18 | g.44953335C= | CA2300141368 | SETBP1 | c.3995C= (p.Ser1332=) c.4073C= (p.Ser1358=) c.3518C= (p.Ser1173=) | |
| 18 | g.44953335C>G | CA8946041 | SETBP1 | c.3995C>G (p.Ser1332Cys) c.4073C>G (p.Ser1358Cys) c.3518C>G (p.Ser1173Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.44953335C>T | CA402325650 | SETBP1 | c.3995C>T (p.Ser1332Phe) c.4073C>T (p.Ser1358Phe) c.3518C>T (p.Ser1173Phe) | |
| 18 | g.44953336T>A | CA503983086 | SETBP1 | c.3996T>A (p.Ser1332=) c.4074T>A (p.Ser1358=) c.3519T>A (p.Ser1173=) | |
| 18 | g.44953336T>C | CA503983088 | SETBP1 | c.3996T>C (p.Ser1332=) c.4074T>C (p.Ser1358=) c.3519T>C (p.Ser1173=) | |
| 18 | g.44953336T>G | CA503983089 | SETBP1 | c.3996T>G (p.Ser1332=) c.4074T>G (p.Ser1358=) c.3519T>G (p.Ser1173=) | |
| 18 | g.44953337C>A | CA402325652 | SETBP1 | c.3997C>A (p.Pro1333Thr) c.4075C>A (p.Pro1359Thr) c.3520C>A (p.Pro1174Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.44953337C= | CA2300141369 | SETBP1 | c.3997C= (p.Pro1333=) c.4075C= (p.Pro1359=) c.3520C= (p.Pro1174=) | |
| 18 | g.44953337C>G | CA402325654 | SETBP1 | c.3997C>G (p.Pro1333Ala) c.4075C>G (p.Pro1359Ala) c.3520C>G (p.Pro1174Ala) | |
| 18 | g.44953337C>T | CA402325653 | SETBP1 | c.3997C>T (p.Pro1333Ser) c.4075C>T (p.Pro1359Ser) c.3520C>T (p.Pro1174Ser) | |
| 18 | g.44953338C>A | CA402325655 | SETBP1 | c.3998C>A (p.Pro1333Gln) c.4076C>A (p.Pro1359Gln) c.3521C>A (p.Pro1174Gln) | |
| 18 | g.44953338C>G | CA402325657 | SETBP1 | c.3998C>G (p.Pro1333Arg) c.4076C>G (p.Pro1359Arg) c.3521C>G (p.Pro1174Arg) | |
| 18 | g.44953338C>T | CA402325656 | SETBP1 | c.3998C>T (p.Pro1333Leu) c.4076C>T (p.Pro1359Leu) c.3521C>T (p.Pro1174Leu) | |
| 18 | g.44953339A>C | CA503983095 | SETBP1 | c.3999A>C (p.Pro1333=) c.4077A>C (p.Pro1359=) c.3522A>C (p.Pro1174=) | |
| 18 | g.44953339A>G | CA503983092 | SETBP1 | c.3999A>G (p.Pro1333=) c.4077A>G (p.Pro1359=) c.3522A>G (p.Pro1174=) | |
| 18 | g.44953339A>T | CA503983094 | SETBP1 | c.3999A>T (p.Pro1333=) c.4077A>T (p.Pro1359=) c.3522A>T (p.Pro1174=) | |
| 18 | g.44953340G>A | CA402325658 | SETBP1 | c.4000G>A (p.Gly1334Arg) c.4000G>A (p.Val1334Ile) c.4078G>A (p.Gly1360Arg) c.4078G>A (p.Val1360Ile) c.3523G>A (p.Gly1175Arg) c.4078G>A (p.Glu1360Lys) | |
| 18 | g.44953340G>C | CA402325659 | SETBP1 | c.4000G>C (p.Gly1334Arg) c.4000G>C (p.Val1334Leu) c.4078G>C (p.Gly1360Arg) c.4078G>C (p.Val1360Leu) c.3523G>C (p.Gly1175Arg) c.4078G>C (p.Glu1360Gln) | |
| 18 | g.44953340G>T | CA402325660 | SETBP1 | c.4000G>T (p.Gly1334Trp) c.4000G>T (p.Val1334Phe) c.4078G>T (p.Gly1360Trp) c.4078G>T (p.Val1360Phe) c.3523G>T (p.Gly1175Trp) c.4078G>T (p.Glu1360Ter) | |
| 18 | g.44953341G>A | CA402325661 | SETBP1 | c.4000+1G>A (n.4000+1G>A) c.4078+1G>A (n.4078+1G>A) c.3523+1G>A (n.3523+1G>A) | |
| 18 | g.44953341G>C | CA402325662 | SETBP1 | c.4000+1G>C (n.4000+1G>C) c.4078+1G>C (n.4078+1G>C) c.3523+1G>C (n.3523+1G>C) | |
| 18 | g.44953341G>T | CA402325663 | SETBP1 | c.4000+1G>T (n.4000+1G>T) c.4078+1G>T (n.4078+1G>T) c.3523+1G>T (n.3523+1G>T) | |
| 18 | g.44953342T>A | CA402325664 | SETBP1 | c.4000+2T>A (n.4000+2T>A) c.4078+2T>A (n.4078+2T>A) c.3523+2T>A (n.3523+2T>A) | |
| 18 | g.44953342T>C | CA402325665 | SETBP1 | c.4000+2T>C (n.4000+2T>C) c.4078+2T>C (n.4078+2T>C) c.3523+2T>C (n.3523+2T>C) | |
| 18 | g.44953342T>G | CA402325666 | SETBP1 | c.4000+2T>G (n.4000+2T>G) c.4078+2T>G (n.4078+2T>G) c.3523+2T>G (n.3523+2T>G) | ClinVar dbSNP |
| 18 | g.44953342T= | CA2300141370 | SETBP1 | c.4000+2T= (n.4000+2T=) c.4078+2T= (n.4078+2T=) c.3523+2T= (n.3523+2T=) | |
| 18 | g.44953343A= | CA2300141372 | SETBP1 | c.4000+3A= (n.4000+3A=) c.4078+3A= (n.4078+3A=) c.3523+3A= (n.3523+3A=) | |
| 18 | g.44953343A>G | CA2300141371 | SETBP1 | c.4000+3A>G (n.4000+3A>G) c.4078+3A>G (n.4078+3A>G) c.3523+3A>G (n.3523+3A>G) | dbSNP |
| 18 | g.44953344del | CA2641600976 | SETBP1 | c.4000+4del (n.4000+4del) c.4078+4del (n.4078+4del) c.3523+4del (n.3523+4del) | gnomAD v4 |