OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.78379712_78379714delinsCAT | CA1470475925 | FRAS1 | c.3293-14_3293-12delinsCAT (n.3293-14_3293-12delinsCAT) c.845-64391_845-64389delinsCAT (n.845-64391_845-64389delinsCAT) c.992-14_992-12delinsCAT (n.992-14_992-12delinsCAT) | |
| 4 | g.78379713A= | CA1470475929 | FRAS1 | c.3293-13A= (n.3293-13A=) c.845-64390A= (n.845-64390A=) c.992-13A= (n.992-13A=) | |
| 4 | g.78379713A>C | CA2976903 | FRAS1 | c.3293-13A>C (n.3293-13A>C) c.845-64390A>C (n.845-64390A>C) c.992-13A>C (n.992-13A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.78379713A>G | CA2671132742 | FRAS1 | c.3293-13A>G (n.3293-13A>G) c.845-64390A>G (n.845-64390A>G) c.992-13A>G (n.992-13A>G) | gnomAD v4 |
| 4 | g.78379713A>T | CA1470475930 | FRAS1 | c.3293-13A>T (n.3293-13A>T) c.845-64390A>T (n.845-64390A>T) c.992-13A>T (n.992-13A>T) | dbSNP gnomAD v4 |
| 4 | g.78379715_78379716del | CA552765136 | FRAS1 | c.3293-11_3293-10del (n.3293-11_3293-10del) c.845-64388_845-64387del (n.845-64388_845-64387del) c.992-11_992-10del (n.992-11_992-10del) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.78379714T>C | CA99951610 | FRAS1 | c.3293-12T>C (n.3293-12T>C) c.845-64389T>C (n.845-64389T>C) c.992-12T>C (n.992-12T>C) | dbSNP gnomAD v4 |
| 4 | g.78379714T= | CA1470475931 | FRAS1 | c.3293-12T= (n.3293-12T=) c.845-64389T= (n.845-64389T=) c.992-12T= (n.992-12T=) | |
| 4 | g.78379715A= | CA1470475934 | FRAS1 | c.3293-11A= (n.3293-11A=) c.845-64388A= (n.845-64388A=) c.992-11A= (n.992-11A=) | |
| 4 | g.78379715A>C | CA99951615 | FRAS1 | c.3293-11A>C (n.3293-11A>C) c.845-64388A>C (n.845-64388A>C) c.992-11A>C (n.992-11A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.78379715A>G | CA2671132743 | FRAS1 | c.3293-11A>G (n.3293-11A>G) c.845-64388A>G (n.845-64388A>G) c.992-11A>G (n.992-11A>G) | gnomAD v4 |
| 4 | g.78379716T>C | CA2976904 | FRAS1 | c.3293-10T>C (n.3293-10T>C) c.845-64387T>C (n.845-64387T>C) c.992-10T>C (n.992-10T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.78379716T= | CA1470475937 | FRAS1 | c.3293-10T= (n.3293-10T=) c.845-64387T= (n.845-64387T=) c.992-10T= (n.992-10T=) | |
| 4 | g.78379717G>A | CA2762293817 | FRAS1 | c.3293-9G>A (n.3293-9G>A) c.845-64386G>A (n.845-64386G>A) c.992-9G>A (n.992-9G>A) | |
| 4 | g.78379717G= | CA1470475940 | FRAS1 | c.3293-9G= (n.3293-9G=) c.845-64386G= (n.845-64386G=) c.992-9G= (n.992-9G=) | |
| 4 | g.78379722dup | CA2976905 | FRAS1 | c.3293-4dup (n.3293-4dup) c.845-64381dup (n.845-64381dup) c.992-4dup (n.992-4dup) | dbSNP ExAC gnomAD v2 |
| 4 | g.78379722del | CA2671132744 | FRAS1 | c.3293-4del (n.3293-4del) c.845-64381del (n.845-64381del) c.992-4del (n.992-4del) | gnomAD v4 |
| 4 | g.78379719T>G | CA2671132745 | FRAS1 | c.3293-7T>G (n.3293-7T>G) c.845-64384T>G (n.845-64384T>G) c.992-7T>G (n.992-7T>G) | gnomAD v4 |
| 4 | g.78379722T>A | CA2976906 | FRAS1 | c.3293-4T>A (n.3293-4T>A) c.845-64381T>A (n.845-64381T>A) c.992-4T>A (n.992-4T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.78379722T>G | CA2671132746 | FRAS1 | c.3293-4T>G (n.3293-4T>G) c.845-64381T>G (n.845-64381T>G) c.992-4T>G (n.992-4T>G) | gnomAD v4 |
| 4 | g.78379722T= | CA1470475944 | FRAS1 | c.3293-4T= (n.3293-4T=) c.845-64381T= (n.845-64381T=) c.992-4T= (n.992-4T=) | |
| 4 | g.78379724A>C | CA357375505 | FRAS1 | c.3293-2A>C (n.3293-2A>C) c.845-64379A>C (n.845-64379A>C) c.992-2A>C (n.992-2A>C) | |
| 4 | g.78379724A>G | CA357375507 | FRAS1 | c.3293-2A>G (n.3293-2A>G) c.845-64379A>G (n.845-64379A>G) c.992-2A>G (n.992-2A>G) | |
| 4 | g.78379724A>T | CA357375509 | FRAS1 | c.3293-2A>T (n.3293-2A>T) c.845-64379A>T (n.845-64379A>T) c.992-2A>T (n.992-2A>T) | ClinVar dbSNP |
| 4 | g.78379725G>A | CA357375511 | FRAS1 | c.3293-1G>A (n.3293-1G>A) c.845-64378G>A (n.845-64378G>A) c.992-1G>A (n.992-1G>A) | |
| 4 | g.78379725G>C | CA357375513 | FRAS1 | c.3293-1G>C (n.3293-1G>C) c.845-64378G>C (n.845-64378G>C) c.992-1G>C (n.992-1G>C) | |
| 4 | g.78379725G>T | CA357375514 | FRAS1 | c.3293-1G>T (n.3293-1G>T) c.845-64378G>T (n.845-64378G>T) c.992-1G>T (n.992-1G>T) | |
| 4 | g.78379726G>A | CA357375517 | FRAS1 | c.3293G>A (p.Gly1098Asp) c.845-64377G>A (n.845-64377G>A) c.992G>A (p.Gly331Asp) | |
| 4 | g.78379726G>C | CA357375519 | FRAS1 | c.3293G>C (p.Gly1098Ala) c.845-64377G>C (n.845-64377G>C) c.992G>C (p.Gly331Ala) | |
| 4 | g.78379726G>T | CA357375520 | FRAS1 | c.3293G>T (p.Gly1098Val) c.845-64377G>T (n.845-64377G>T) c.992G>T (p.Gly331Val) | |
| 4 | g.78379727C>A | CA440223926 | FRAS1 | c.3294C>A (p.Gly1098=) c.845-64376C>A (n.845-64376C>A) c.993C>A (p.Gly331=) | gnomAD v4 |
| 4 | g.78379727C>G | CA440223927 | FRAS1 | c.3294C>G (p.Gly1098=) c.845-64376C>G (n.845-64376C>G) c.993C>G (p.Gly331=) | |
| 4 | g.78379727C>T | CA440223928 | FRAS1 | c.3294C>T (p.Gly1098=) c.845-64376C>T (n.845-64376C>T) c.993C>T (p.Gly331=) | |
| 4 | g.78379728A>C | CA357375523 | FRAS1 | c.3295A>C (p.Lys1099Gln) c.845-64375A>C (n.845-64375A>C) c.994A>C (p.Lys332Gln) | |
| 4 | g.78379728A>G | CA357375525 | FRAS1 | c.3295A>G (p.Lys1099Glu) c.845-64375A>G (n.845-64375A>G) c.994A>G (p.Lys332Glu) | |
| 4 | g.78379728A>T | CA357375526 | FRAS1 | c.3295A>T (p.Lys1099Ter) c.845-64375A>T (n.845-64375A>T) c.994A>T (p.Lys332Ter) | |
| 4 | g.78379729A>C | CA357375533 | FRAS1 | c.3296A>C (p.Lys1099Thr) c.845-64374A>C (n.845-64374A>C) c.995A>C (p.Lys332Thr) | |
| 4 | g.78379729A>G | CA357375531 | FRAS1 | c.3296A>G (p.Lys1099Arg) c.845-64374A>G (n.845-64374A>G) c.995A>G (p.Lys332Arg) | |
| 4 | g.78379729A>T | CA357375529 | FRAS1 | c.3296A>T (p.Lys1099Ile) c.845-64374A>T (n.845-64374A>T) c.995A>T (p.Lys332Ile) | |
| 4 | g.78379730A>C | CA357375534 | FRAS1 | c.3297A>C (p.Lys1099Asn) c.845-64373A>C (n.845-64373A>C) c.996A>C (p.Lys332Asn) | |
| 4 | g.78379730A>G | CA440223944 | FRAS1 | c.3297A>G (p.Lys1099=) c.845-64373A>G (n.845-64373A>G) c.996A>G (p.Lys332=) | |
| 4 | g.78379730A>T | CA357375536 | FRAS1 | c.3297A>T (p.Lys1099Asn) c.845-64373A>T (n.845-64373A>T) c.996A>T (p.Lys332Asn) | |
| 4 | g.78379731A>C | CA357375538 | FRAS1 | c.3298A>C (p.Ile1100Leu) c.845-64372A>C (n.845-64372A>C) c.997A>C (p.Ile333Leu) | |
| 4 | g.78379731A>G | CA357375541 | FRAS1 | c.3298A>G (p.Ile1100Val) c.845-64372A>G (n.845-64372A>G) c.997A>G (p.Ile333Val) | |
| 4 | g.78379731A>T | CA357375540 | FRAS1 | c.3298A>T (p.Ile1100Leu) c.845-64372A>T (n.845-64372A>T) c.997A>T (p.Ile333Leu) | |
| 4 | g.78379732T>A | CA357375542 | FRAS1 | c.3299T>A (p.Ile1100Lys) c.845-64371T>A (n.845-64371T>A) c.998T>A (p.Ile333Lys) | |
| 4 | g.78379732T>C | CA357375545 | FRAS1 | c.3299T>C (p.Ile1100Thr) c.845-64371T>C (n.845-64371T>C) c.998T>C (p.Ile333Thr) | |
| 4 | g.78379732T>G | CA357375543 | FRAS1 | c.3299T>G (p.Ile1100Arg) c.845-64371T>G (n.845-64371T>G) c.998T>G (p.Ile333Arg) | |
| 4 | g.78379733A>C | CA440223948 | FRAS1 | c.3300A>C (p.Ile1100=) c.845-64370A>C (n.845-64370A>C) c.999A>C (p.Ile333=) | |
| 4 | g.78379733A>G | CA357375547 | FRAS1 | c.3300A>G (p.Ile1100Met) c.845-64370A>G (n.845-64370A>G) c.999A>G (p.Ile333Met) | |
| 4 | g.78379733A>T | CA440223949 | FRAS1 | c.3300A>T (p.Ile1100=) c.845-64370A>T (n.845-64370A>T) c.999A>T (p.Ile333=) | ClinVar |
| 4 | g.78379734C>A | CA357375551 | FRAS1 | c.3301C>A (p.His1101Asn) c.845-64369C>A (n.845-64369C>A) c.1000C>A (p.His334Asn) | |
| 4 | g.78379734C= | CA1470475953 | FRAS1 | c.3301C= (p.His1101=) c.845-64369C= (n.845-64369C=) c.1000C= (p.His334=) | |
| 4 | g.78379734C>G | CA357375549 | FRAS1 | c.3301C>G (p.His1101Asp) c.845-64369C>G (n.845-64369C>G) c.1000C>G (p.His334Asp) | dbSNP |
| 4 | g.78379734C>T | CA357375553 | FRAS1 | c.3301C>T (p.His1101Tyr) c.845-64369C>T (n.845-64369C>T) c.1000C>T (p.His334Tyr) | dbSNP |
| 4 | g.78379735A= | CA1470475963 | FRAS1 | c.3302A= (p.His1101=) c.845-64368A= (n.845-64368A=) c.1001A= (p.His334=) | |
| 4 | g.78379735A>C | CA357375555 | FRAS1 | c.3302A>C (p.His1101Pro) c.845-64368A>C (n.845-64368A>C) c.1001A>C (p.His334Pro) | dbSNP |
| 4 | g.78379735A>G | CA357375557 | FRAS1 | c.3302A>G (p.His1101Arg) c.845-64368A>G (n.845-64368A>G) c.1001A>G (p.His334Arg) | |
| 4 | g.78379735A>T | CA99951625 | FRAS1 | c.3302A>T (p.His1101Leu) c.845-64368A>T (n.845-64368A>T) c.1001A>T (p.His334Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.78379736C>A | CA357375559 | FRAS1 | c.3303C>A (p.His1101Gln) c.845-64367C>A (n.845-64367C>A) c.1002C>A (p.His334Gln) | |
| 4 | g.78379736C>G | CA357375561 | FRAS1 | c.3303C>G (p.His1101Gln) c.845-64367C>G (n.845-64367C>G) c.1002C>G (p.His334Gln) | |
| 4 | g.78379736C>T | CA440223977 | FRAS1 | c.3303C>T (p.His1101=) c.845-64367C>T (n.845-64367C>T) c.1002C>T (p.His334=) | gnomAD v4 |
| 4 | g.78379737A>C | CA357375563 | FRAS1 | c.3304A>C (p.Thr1102Pro) c.845-64366A>C (n.845-64366A>C) c.1003A>C (p.Thr335Pro) | |
| 4 | g.78379737A>G | CA357375565 | FRAS1 | c.3304A>G (p.Thr1102Ala) c.845-64366A>G (n.845-64366A>G) c.1003A>G (p.Thr335Ala) | |
| 4 | g.78379737A>T | CA357375567 | FRAS1 | c.3304A>T (p.Thr1102Ser) c.845-64366A>T (n.845-64366A>T) c.1003A>T (p.Thr335Ser) | |
| 4 | g.78379738C>A | CA99951627 | FRAS1 | c.3305C>A (p.Thr1102Asn) c.845-64365C>A (n.845-64365C>A) c.1004C>A (p.Thr335Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.78379738C= | CA1470475974 | FRAS1 | c.3305C= (p.Thr1102=) c.845-64365C= (n.845-64365C=) c.1004C= (p.Thr335=) | |
| 4 | g.78379738C>G | CA357375571 | FRAS1 | c.3305C>G (p.Thr1102Ser) c.845-64365C>G (n.845-64365C>G) c.1004C>G (p.Thr335Ser) | |
| 4 | g.78379738C>T | CA357375569 | FRAS1 | c.3305C>T (p.Thr1102Ile) c.845-64365C>T (n.845-64365C>T) c.1004C>T (p.Thr335Ile) | COSMIC COSMIC COSMIC |
| 4 | g.78379739C>A | CA440223980 | FRAS1 | c.3306C>A (p.Thr1102=) c.845-64364C>A (n.845-64364C>A) c.1005C>A (p.Thr335=) | |
| 4 | g.78379739C= | CA1470475981 | FRAS1 | c.3306C= (p.Thr1102=) c.845-64364C= (n.845-64364C=) c.1005C= (p.Thr335=) | |
| 4 | g.78379739C>G | CA440223981 | FRAS1 | c.3306C>G (p.Thr1102=) c.845-64364C>G (n.845-64364C>G) c.1005C>G (p.Thr335=) | |
| 4 | g.78379739C>T | CA440223982 | FRAS1 | c.3306C>T (p.Thr1102=) c.845-64364C>T (n.845-64364C>T) c.1005C>T (p.Thr335=) | dbSNP |
| 4 | g.78379740C>A | CA357375574 | FRAS1 | c.3307C>A (p.Pro1103Thr) c.845-64363C>A (n.845-64363C>A) c.1006C>A (p.Pro336Thr) | |
| 4 | g.78379740C>G | CA357375576 | FRAS1 | c.3307C>G (p.Pro1103Ala) c.845-64363C>G (n.845-64363C>G) c.1006C>G (p.Pro336Ala) | |
| 4 | g.78379740C>T | CA357375577 | FRAS1 | c.3307C>T (p.Pro1103Ser) c.845-64363C>T (n.845-64363C>T) c.1006C>T (p.Pro336Ser) | |
| 4 | g.78379741C>A | CA357375580 | FRAS1 | c.3308C>A (p.Pro1103His) c.845-64362C>A (n.845-64362C>A) c.1007C>A (p.Pro336His) | |
| 4 | g.78379741C>G | CA357375581 | FRAS1 | c.3308C>G (p.Pro1103Arg) c.845-64362C>G (n.845-64362C>G) c.1007C>G (p.Pro336Arg) | |
| 4 | g.78379741C>T | CA357375583 | FRAS1 | c.3308C>T (p.Pro1103Leu) c.845-64362C>T (n.845-64362C>T) c.1007C>T (p.Pro336Leu) | |
| 4 | g.78379742T>A | CA440223985 | FRAS1 | c.3309T>A (p.Pro1103=) c.845-64361T>A (n.845-64361T>A) c.1008T>A (p.Pro336=) | |
| 4 | g.78379742T>C | CA440223987 | FRAS1 | c.3309T>C (p.Pro1103=) c.845-64361T>C (n.845-64361T>C) c.1008T>C (p.Pro336=) | |
| 4 | g.78379742T>G | CA440223988 | FRAS1 | c.3309T>G (p.Pro1103=) c.845-64361T>G (n.845-64361T>G) c.1008T>G (p.Pro336=) | |
| 4 | g.78379743A>C | CA357375589 | FRAS1 | c.3310A>C (p.Ser1104Arg) c.845-64360A>C (n.845-64360A>C) c.1009A>C (p.Ser337Arg) | |
| 4 | g.78379743A>G | CA357375585 | FRAS1 | c.3310A>G (p.Ser1104Gly) c.845-64360A>G (n.845-64360A>G) c.1009A>G (p.Ser337Gly) | |
| 4 | g.78379743A>T | CA357375587 | FRAS1 | c.3310A>T (p.Ser1104Cys) c.845-64360A>T (n.845-64360A>T) c.1009A>T (p.Ser337Cys) | |
| 4 | g.78379744G>A | CA357375591 | FRAS1 | c.3311G>A (p.Ser1104Asn) c.845-64359G>A (n.845-64359G>A) c.1010G>A (p.Ser337Asn) | gnomAD v4 |
| 4 | g.78379744G>C | CA357375593 | FRAS1 | c.3311G>C (p.Ser1104Thr) c.845-64359G>C (n.845-64359G>C) c.1010G>C (p.Ser337Thr) | |
| 4 | g.78379744G>T | CA357375594 | FRAS1 | c.3311G>T (p.Ser1104Ile) c.845-64359G>T (n.845-64359G>T) c.1010G>T (p.Ser337Ile) | |
| 4 | g.78379745T>A | CA357375596 | FRAS1 | c.3312T>A (p.Ser1104Arg) c.845-64358T>A (n.845-64358T>A) c.1011T>A (p.Ser337Arg) | |
| 4 | g.78379745T>C | CA202103 | FRAS1 | c.3312T>C (p.Ser1104=) c.845-64358T>C (n.845-64358T>C) c.1011T>C (p.Ser337=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.78379745T>G | CA357375597 | FRAS1 | c.3312T>G (p.Ser1104Arg) c.845-64358T>G (n.845-64358T>G) c.1011T>G (p.Ser337Arg) | |
| 4 | g.78379745T= | CA1470475993 | FRAS1 | c.3312T= (p.Ser1104=) c.845-64358T= (n.845-64358T=) c.1011T= (p.Ser337=) | |
| 4 | g.78379746C>A | CA357375599 | FRAS1 | c.3313C>A (p.Leu1105Ile) c.845-64357C>A (n.845-64357C>A) c.1012C>A (p.Leu338Ile) | gnomAD v4 |
| 4 | g.78379746C= | CA1470476001 | FRAS1 | c.3313C= (p.Leu1105=) c.845-64357C= (n.845-64357C=) c.1012C= (p.Leu338=) | |
| 4 | g.78379746C>G | CA357375601 | FRAS1 | c.3313C>G (p.Leu1105Val) c.845-64357C>G (n.845-64357C>G) c.1012C>G (p.Leu338Val) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.78379746C>T | CA99951636 | FRAS1 | c.3313C>T (p.Leu1105Phe) c.845-64357C>T (n.845-64357C>T) c.1012C>T (p.Leu338Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.78379747T>A | CA357375603 | FRAS1 | c.3314T>A (p.Leu1105His) c.845-64356T>A (n.845-64356T>A) c.1013T>A (p.Leu338His) | |
| 4 | g.78379747T>C | CA357375605 | FRAS1 | c.3314T>C (p.Leu1105Pro) c.845-64356T>C (n.845-64356T>C) c.1013T>C (p.Leu338Pro) | |
| 4 | g.78379747T>G | CA357375607 | FRAS1 | c.3314T>G (p.Leu1105Arg) c.845-64356T>G (n.845-64356T>G) c.1013T>G (p.Leu338Arg) | |
| 4 | g.78379748T>A | CA440223996 | FRAS1 | c.3315T>A (p.Leu1105=) c.845-64355T>A (n.845-64355T>A) c.1014T>A (p.Leu338=) | |
| 4 | g.78379748T>C | CA440223997 | FRAS1 | c.3315T>C (p.Leu1105=) c.845-64355T>C (n.845-64355T>C) c.1014T>C (p.Leu338=) | gnomAD v4 |
| 4 | g.78379748T>G | CA440223999 | FRAS1 | c.3315T>G (p.Leu1105=) c.845-64355T>G (n.845-64355T>G) c.1014T>G (p.Leu338=) | |
| 4 | g.78379749C>A | CA357375609 | FRAS1 | c.3316C>A (p.His1106Asn) c.845-64354C>A (n.845-64354C>A) c.1015C>A (p.His339Asn) | |
| 4 | g.78379749C>G | CA357375613 | FRAS1 | c.3316C>G (p.His1106Asp) c.845-64354C>G (n.845-64354C>G) c.1015C>G (p.His339Asp) | |
| 4 | g.78379749C>T | CA357375611 | FRAS1 | c.3316C>T (p.His1106Tyr) c.845-64354C>T (n.845-64354C>T) c.1015C>T (p.His339Tyr) | |
| 4 | g.78379750A>C | CA357375615 | FRAS1 | c.3317A>C (p.His1106Pro) c.845-64353A>C (n.845-64353A>C) c.1016A>C (p.His339Pro) | |
| 4 | g.78379750A>G | CA357375617 | FRAS1 | c.3317A>G (p.His1106Arg) c.845-64353A>G (n.845-64353A>G) c.1016A>G (p.His339Arg) | dbSNP gnomAD v4 |
| 4 | g.78379750A>T | CA357375619 | FRAS1 | c.3317A>T (p.His1106Leu) c.845-64353A>T (n.845-64353A>T) c.1016A>T (p.His339Leu) | |
| 4 | g.78379751T>A | CA357375621 | FRAS1 | c.3318T>A (p.His1106Gln) c.845-64352T>A (n.845-64352T>A) c.1017T>A (p.His339Gln) | |
| 4 | g.78379751T>C | CA440224010 | FRAS1 | c.3318T>C (p.His1106=) c.845-64352T>C (n.845-64352T>C) c.1017T>C (p.His339=) | dbSNP |
| 4 | g.78379751T>G | CA357375623 | FRAS1 | c.3318T>G (p.His1106Gln) c.845-64352T>G (n.845-64352T>G) c.1017T>G (p.His339Gln) | |
| 4 | g.78379751T= | CA1470476005 | FRAS1 | c.3318T= (p.His1106=) c.845-64352T= (n.845-64352T=) c.1017T= (p.His339=) | |
| 4 | g.78379752G>A | CA357375625 | FRAS1 | c.3319G>A (p.Val1107Met) c.845-64351G>A (n.845-64351G>A) c.1018G>A (p.Val340Met) | |
| 4 | g.78379752G>C | CA357375627 | FRAS1 | c.3319G>C (p.Val1107Leu) c.845-64351G>C (n.845-64351G>C) c.1018G>C (p.Val340Leu) | |
| 4 | g.78379752G>T | CA357375628 | FRAS1 | c.3319G>T (p.Val1107Leu) c.845-64351G>T (n.845-64351G>T) c.1018G>T (p.Val340Leu) | |
| 4 | g.78379753T>A | CA357375629 | FRAS1 | c.3320T>A (p.Val1107Glu) c.845-64350T>A (n.845-64350T>A) c.1019T>A (p.Val340Glu) | |
| 4 | g.78379753T>C | CA357375631 | FRAS1 | c.3320T>C (p.Val1107Ala) c.845-64350T>C (n.845-64350T>C) c.1019T>C (p.Val340Ala) | |
| 4 | g.78379753T>G | CA357375633 | FRAS1 | c.3320T>G (p.Val1107Gly) c.845-64350T>G (n.845-64350T>G) c.1019T>G (p.Val340Gly) | |
| 4 | g.78379754G>A | CA440224016 | FRAS1 | c.3321G>A (p.Val1107=) c.845-64349G>A (n.845-64349G>A) c.1020G>A (p.Val340=) | |
| 4 | g.78379754G>C | CA440224017 | FRAS1 | c.3321G>C (p.Val1107=) c.845-64349G>C (n.845-64349G>C) c.1020G>C (p.Val340=) | |
| 4 | g.78379754G>T | CA440224019 | FRAS1 | c.3321G>T (p.Val1107=) c.845-64349G>T (n.845-64349G>T) c.1020G>T (p.Val340=) | |
| 4 | g.78379755A>C | CA357375639 | FRAS1 | c.3322A>C (p.Asn1108His) c.845-64348A>C (n.845-64348A>C) c.1021A>C (p.Asn341His) | |
| 4 | g.78379755A>G | CA357375637 | FRAS1 | c.3322A>G (p.Asn1108Asp) c.845-64348A>G (n.845-64348A>G) c.1021A>G (p.Asn341Asp) | |
| 4 | g.78379755A>T | CA357375635 | FRAS1 | c.3322A>T (p.Asn1108Tyr) c.845-64348A>T (n.845-64348A>T) c.1021A>T (p.Asn341Tyr) | |
| 4 | g.78379756A= | CA1470476018 | FRAS1 | c.3323A= (p.Asn1108=) c.845-64347A= (n.845-64347A=) c.1022A= (p.Asn341=) | |
| 4 | g.78379756A>C | CA357375641 | FRAS1 | c.3323A>C (p.Asn1108Thr) c.845-64347A>C (n.845-64347A>C) c.1022A>C (p.Asn341Thr) | |
| 4 | g.78379756A>G | CA99951643 | FRAS1 | c.3323A>G (p.Asn1108Ser) c.845-64347A>G (n.845-64347A>G) c.1022A>G (p.Asn341Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.78379756A>T | CA357375644 | FRAS1 | c.3323A>T (p.Asn1108Ile) c.845-64347A>T (n.845-64347A>T) c.1022A>T (p.Asn341Ile) | |
| 4 | g.78379757T>A | CA357375646 | FRAS1 | c.3324T>A (p.Asn1108Lys) c.845-64346T>A (n.845-64346T>A) c.1023T>A (p.Asn341Lys) | |
| 4 | g.78379757T>C | CA440224026 | FRAS1 | c.3324T>C (p.Asn1108=) c.845-64346T>C (n.845-64346T>C) c.1023T>C (p.Asn341=) | |
| 4 | g.78379757T>G | CA357375648 | FRAS1 | c.3324T>G (p.Asn1108Lys) c.845-64346T>G (n.845-64346T>G) c.1023T>G (p.Asn341Lys) | |
| 4 | g.78379758G>A | CA357375649 | FRAS1 | c.3325G>A (p.Gly1109Ser) c.845-64345G>A (n.845-64345G>A) c.1024G>A (p.Gly342Ser) | gnomAD v4 |
| 4 | g.78379758G>C | CA2976907 | FRAS1 | c.3325G>C (p.Gly1109Arg) c.845-64345G>C (n.845-64345G>C) c.1024G>C (p.Gly342Arg) | dbSNP ExAC gnomAD v2 |
| 4 | g.78379758G= | CA1470476021 | FRAS1 | c.3325G= (p.Gly1109=) c.845-64345G= (n.845-64345G=) c.1024G= (p.Gly342=) | |
| 4 | g.78379758G>T | CA357375652 | FRAS1 | c.3325G>T (p.Gly1109Cys) c.845-64345G>T (n.845-64345G>T) c.1024G>T (p.Gly342Cys) | gnomAD v4 |
| 4 | g.78379759G>A | CA357375654 | FRAS1 | c.3326G>A (p.Gly1109Asp) c.845-64344G>A (n.845-64344G>A) c.1025G>A (p.Gly342Asp) | |
| 4 | g.78379759G>C | CA99951662 | FRAS1 | c.3326G>C (p.Gly1109Ala) c.845-64344G>C (n.845-64344G>C) c.1025G>C (p.Gly342Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.78379759G= | CA1470476025 | FRAS1 | c.3326G= (p.Gly1109=) c.845-64344G= (n.845-64344G=) c.1025G= (p.Gly342=) | |
| 4 | g.78379759G>T | CA357375656 | FRAS1 | c.3326G>T (p.Gly1109Val) c.845-64344G>T (n.845-64344G>T) c.1025G>T (p.Gly342Val) | |
| 4 | g.78379760T>A | CA440224038 | FRAS1 | c.3327T>A (p.Gly1109=) c.845-64343T>A (n.845-64343T>A) c.1026T>A (p.Gly342=) | |
| 4 | g.78379760T>C | CA440224041 | FRAS1 | c.3327T>C (p.Gly1109=) c.845-64343T>C (n.845-64343T>C) c.1026T>C (p.Gly342=) | |
| 4 | g.78379760T>G | CA440224043 | FRAS1 | c.3327T>G (p.Gly1109=) c.845-64343T>G (n.845-64343T>G) c.1026T>G (p.Gly342=) | |
| 4 | g.78379761T>A | CA357375662 | FRAS1 | c.3328T>A (p.Ser1110Thr) c.845-64342T>A (n.845-64342T>A) c.1027T>A (p.Ser343Thr) | |
| 4 | g.78379761T>C | CA357375660 | FRAS1 | c.3328T>C (p.Ser1110Pro) c.845-64342T>C (n.845-64342T>C) c.1027T>C (p.Ser343Pro) | |
| 4 | g.78379761T>G | CA357375658 | FRAS1 | c.3328T>G (p.Ser1110Ala) c.845-64342T>G (n.845-64342T>G) c.1027T>G (p.Ser343Ala) | COSMIC COSMIC COSMIC |
| 4 | g.78379762C>A | CA357375664 | FRAS1 | c.3329C>A (p.Ser1110Tyr) c.845-64341C>A (n.845-64341C>A) c.1028C>A (p.Ser343Tyr) | |
| 4 | g.78379762C= | CA1470476029 | FRAS1 | c.3329C= (p.Ser1110=) c.845-64341C= (n.845-64341C=) c.1028C= (p.Ser343=) | |
| 4 | g.78379762C>G | CA357375666 | FRAS1 | c.3329C>G (p.Ser1110Cys) c.845-64341C>G (n.845-64341C>G) c.1028C>G (p.Ser343Cys) | |
| 4 | g.78379762C>T | CA2976908 | FRAS1 | c.3329C>T (p.Ser1110Phe) c.845-64341C>T (n.845-64341C>T) c.1028C>T (p.Ser343Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.78379763C>A | CA440224071 | FRAS1 | c.3330C>A (p.Ser1110=) c.845-64340C>A (n.845-64340C>A) c.1029C>A (p.Ser343=) | |
| 4 | g.78379763C>G | CA440224073 | FRAS1 | c.3330C>G (p.Ser1110=) c.845-64340C>G (n.845-64340C>G) c.1029C>G (p.Ser343=) | |
| 4 | g.78379763C>T | CA440224076 | FRAS1 | c.3330C>T (p.Ser1110=) c.845-64340C>T (n.845-64340C>T) c.1029C>T (p.Ser343=) | |
| 4 | g.78379764C>A | CA357375668 | FRAS1 | c.3331C>A (p.Leu1111Met) c.845-64339C>A (n.845-64339C>A) c.1030C>A (p.Leu344Met) | |
| 4 | g.78379764C>G | CA357375670 | FRAS1 | c.3331C>G (p.Leu1111Val) c.845-64339C>G (n.845-64339C>G) c.1030C>G (p.Leu344Val) | COSMIC COSMIC COSMIC |
| 4 | g.78379764C>T | CA440224081 | FRAS1 | c.3331C>T (p.Leu1111=) c.845-64339C>T (n.845-64339C>T) c.1030C>T (p.Leu344=) | |
| 4 | g.78379765T>A | CA357375672 | FRAS1 | c.3332T>A (p.Leu1111Gln) c.845-64338T>A (n.845-64338T>A) c.1031T>A (p.Leu344Gln) | |
| 4 | g.78379765T>C | CA357375674 | FRAS1 | c.3332T>C (p.Leu1111Pro) c.845-64338T>C (n.845-64338T>C) c.1031T>C (p.Leu344Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.78379765T>G | CA357375676 | FRAS1 | c.3332T>G (p.Leu1111Arg) c.845-64338T>G (n.845-64338T>G) c.1031T>G (p.Leu344Arg) | |
| 4 | g.78379765T= | CA1470476035 | FRAS1 | c.3332T= (p.Leu1111=) c.845-64338T= (n.845-64338T=) c.1031T= (p.Leu344=) | |
| 4 | g.78379766G>A | CA440224084 | FRAS1 | c.3333G>A (p.Leu1111=) c.845-64337G>A (n.845-64337G>A) c.1032G>A (p.Leu344=) | gnomAD v4 |
| 4 | g.78379766G>C | CA440224085 | FRAS1 | c.3333G>C (p.Leu1111=) c.845-64337G>C (n.845-64337G>C) c.1032G>C (p.Leu344=) | |
| 4 | g.78379766G>T | CA440224083 | FRAS1 | c.3333G>T (p.Leu1111=) c.845-64337G>T (n.845-64337G>T) c.1032G>T (p.Leu344=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.78379767A>C | CA357375678 | FRAS1 | c.3334A>C (p.Ile1112Leu) c.845-64336A>C (n.845-64336A>C) c.1033A>C (p.Ile345Leu) | |
| 4 | g.78379767A>G | CA357375680 | FRAS1 | c.3334A>G (p.Ile1112Val) c.845-64336A>G (n.845-64336A>G) c.1033A>G (p.Ile345Val) | |
| 4 | g.78379767A>T | CA357375682 | FRAS1 | c.3334A>T (p.Ile1112Phe) c.845-64336A>T (n.845-64336A>T) c.1033A>T (p.Ile345Phe) | |
| 4 | g.78379768T>A | CA357375684 | FRAS1 | c.3335T>A (p.Ile1112Asn) c.845-64335T>A (n.845-64335T>A) c.1034T>A (p.Ile345Asn) | |
| 4 | g.78379768T>C | CA357375686 | FRAS1 | c.3335T>C (p.Ile1112Thr) c.845-64335T>C (n.845-64335T>C) c.1034T>C (p.Ile345Thr) | |
| 4 | g.78379768T>G | CA357375687 | FRAS1 | c.3335T>G (p.Ile1112Ser) c.845-64335T>G (n.845-64335T>G) c.1034T>G (p.Ile345Ser) | |
| 4 | g.78379769C>A | CA440224089 | FRAS1 | c.3336C>A (p.Ile1112=) c.845-64334C>A (n.845-64334C>A) c.1035C>A (p.Ile345=) | |
| 4 | g.78379769C= | CA1470476039 | FRAS1 | c.3336C= (p.Ile1112=) c.845-64334C= (n.845-64334C=) c.1035C= (p.Ile345=) | |
| 4 | g.78379769C>G | CA357375690 | FRAS1 | c.3336C>G (p.Ile1112Met) c.845-64334C>G (n.845-64334C>G) c.1035C>G (p.Ile345Met) | |
| 4 | g.78379769C>T | CA2976909 | FRAS1 | c.3336C>T (p.Ile1112=) c.845-64334C>T (n.845-64334C>T) c.1035C>T (p.Ile345=) | dbSNP ExAC gnomAD v2 |
| 4 | g.78379770C>A | CA357375692 | FRAS1 | c.3337C>A (p.Leu1113Ile) c.845-64333C>A (n.845-64333C>A) c.1036C>A (p.Leu346Ile) | |
| 4 | g.78379770C>G | CA357375694 | FRAS1 | c.3337C>G (p.Leu1113Val) c.845-64333C>G (n.845-64333C>G) c.1036C>G (p.Leu346Val) | |
| 4 | g.78379770C>T | CA357375696 | FRAS1 | c.3337C>T (p.Leu1113Phe) c.845-64333C>T (n.845-64333C>T) c.1036C>T (p.Leu346Phe) | gnomAD v4 |
| 4 | g.78379771del | CA2706395869 | FRAS1 | c.3338del (p.Leu1113ProfsTer6) c.845-64332del (n.845-64332del) c.1037del (p.Leu346ProfsTer6) | dbSNP |
| 4 | g.78379771T>A | CA357375698 | FRAS1 | c.3338T>A (p.Leu1113His) c.845-64332T>A (n.845-64332T>A) c.1037T>A (p.Leu346His) | dbSNP |
| 4 | g.78379771T>C | CA357375700 | FRAS1 | c.3338T>C (p.Leu1113Pro) c.845-64332T>C (n.845-64332T>C) c.1037T>C (p.Leu346Pro) | gnomAD v4 |
| 4 | g.78379771T>G | CA357375702 | FRAS1 | c.3338T>G (p.Leu1113Arg) c.845-64332T>G (n.845-64332T>G) c.1037T>G (p.Leu346Arg) | |
| 4 | g.78379771T= | CA1470476043 | FRAS1 | c.3338T= (p.Leu1113=) c.845-64332T= (n.845-64332T=) c.1037T= (p.Leu346=) | |
| 4 | g.78379772C>A | CA440224095 | FRAS1 | c.3339C>A (p.Leu1113=) c.845-64331C>A (n.845-64331C>A) c.1038C>A (p.Leu346=) | |
| 4 | g.78379772C>G | CA440224099 | FRAS1 | c.3339C>G (p.Leu1113=) c.845-64331C>G (n.845-64331C>G) c.1038C>G (p.Leu346=) | |
| 4 | g.78379772C>T | CA440224097 | FRAS1 | c.3339C>T (p.Leu1113=) c.845-64331C>T (n.845-64331C>T) c.1038C>T (p.Leu346=) | |
| 4 | g.78379773C>A | CA357375704 | FRAS1 | c.3340C>A (p.Pro1114Thr) c.845-64330C>A (n.845-64330C>A) c.1039C>A (p.Pro347Thr) | |
| 4 | g.78379773C= | CA1470476048 | FRAS1 | c.3340C= (p.Pro1114=) c.845-64330C= (n.845-64330C=) c.1039C= (p.Pro347=) | |
| 4 | g.78379773C>G | CA357375705 | FRAS1 | c.3340C>G (p.Pro1114Ala) c.845-64330C>G (n.845-64330C>G) c.1039C>G (p.Pro347Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.78379773C>T | CA357375707 | FRAS1 | c.3340C>T (p.Pro1114Ser) c.845-64330C>T (n.845-64330C>T) c.1039C>T (p.Pro347Ser) | |
| 4 | g.78379774C>A | CA357375709 | FRAS1 | c.3341C>A (p.Pro1114Gln) c.845-64329C>A (n.845-64329C>A) c.1040C>A (p.Pro347Gln) | |
| 4 | g.78379774C>G | CA357375711 | FRAS1 | c.3341C>G (p.Pro1114Arg) c.845-64329C>G (n.845-64329C>G) c.1040C>G (p.Pro347Arg) | |
| 4 | g.78379774C>T | CA357375713 | FRAS1 | c.3341C>T (p.Pro1114Leu) c.845-64329C>T (n.845-64329C>T) c.1040C>T (p.Pro347Leu) | |
| 4 | g.78379775A>C | CA440224105 | FRAS1 | c.3342A>C (p.Pro1114=) c.845-64328A>C (n.845-64328A>C) c.1041A>C (p.Pro347=) | |
| 4 | g.78379775A>G | CA440224107 | FRAS1 | c.3342A>G (p.Pro1114=) c.845-64328A>G (n.845-64328A>G) c.1041A>G (p.Pro347=) | gnomAD v4 |
| 4 | g.78379775A>T | CA440224109 | FRAS1 | c.3342A>T (p.Pro1114=) c.845-64328A>T (n.845-64328A>T) c.1041A>T (p.Pro347=) | |
| 4 | g.78379776A>C | CA357375717 | FRAS1 | c.3343A>C (p.Ile1115Leu) c.845-64327A>C (n.845-64327A>C) c.1042A>C (p.Ile348Leu) | dbSNP |
| 4 | g.78379776A>G | CA357375719 | FRAS1 | c.3343A>G (p.Ile1115Val) c.845-64327A>G (n.845-64327A>G) c.1042A>G (p.Ile348Val) | gnomAD v4 |
| 4 | g.78379776A>T | CA357375715 | FRAS1 | c.3343A>T (p.Ile1115Phe) c.845-64327A>T (n.845-64327A>T) c.1042A>T (p.Ile348Phe) | COSMIC COSMIC COSMIC |
| 4 | g.78379777T>A | CA357375721 | FRAS1 | c.3344T>A (p.Ile1115Asn) c.845-64326T>A (n.845-64326T>A) c.1043T>A (p.Ile348Asn) | |
| 4 | g.78379777T>C | CA2976910 | FRAS1 | c.3344T>C (p.Ile1115Thr) c.845-64326T>C (n.845-64326T>C) c.1043T>C (p.Ile348Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.78379777T>G | CA357375723 | FRAS1 | c.3344T>G (p.Ile1115Ser) c.845-64326T>G (n.845-64326T>G) c.1043T>G (p.Ile348Ser) | |
| 4 | g.78379777T= | CA1470476052 | FRAS1 | c.3344T= (p.Ile1115=) c.845-64326T= (n.845-64326T=) c.1043T= (p.Ile348=) | |
| 4 | g.78379778T>A | CA440224115 | FRAS1 | c.3345T>A (p.Ile1115=) c.845-64325T>A (n.845-64325T>A) c.1044T>A (p.Ile348=) | |
| 4 | g.78379778T>C | CA440224116 | FRAS1 | c.3345T>C (p.Ile1115=) c.845-64325T>C (n.845-64325T>C) c.1044T>C (p.Ile348=) | |
| 4 | g.78379778T>G | CA357375725 | FRAS1 | c.3345T>G (p.Ile1115Met) c.845-64325T>G (n.845-64325T>G) c.1044T>G (p.Ile348Met) | |
| 4 | g.78379779G>A | CA357375727 | FRAS1 | c.3346G>A (p.Gly1116Ser) c.845-64324G>A (n.845-64324G>A) c.1045G>A (p.Gly349Ser) | dbSNP |
| 4 | g.78379779G>C | CA357375730 | FRAS1 | c.3346G>C (p.Gly1116Arg) c.845-64324G>C (n.845-64324G>C) c.1045G>C (p.Gly349Arg) | |
| 4 | g.78379779G>T | CA357375731 | FRAS1 | c.3346G>T (p.Gly1116Cys) c.845-64324G>T (n.845-64324G>T) c.1045G>T (p.Gly349Cys) | gnomAD v4 |
| 4 | g.78379780G>A | CA357375733 | FRAS1 | c.3347G>A (p.Gly1116Asp) c.845-64323G>A (n.845-64323G>A) c.1046G>A (p.Gly349Asp) | |
| 4 | g.78379780G>C | CA357375735 | FRAS1 | c.3347G>C (p.Gly1116Ala) c.845-64323G>C (n.845-64323G>C) c.1046G>C (p.Gly349Ala) | gnomAD v4 |
| 4 | g.78379780G= | CA1470476062 | FRAS1 | c.3347G= (p.Gly1116=) c.845-64323G= (n.845-64323G=) c.1046G= (p.Gly349=) | |
| 4 | g.78379780G>T | CA357375737 | FRAS1 | c.3347G>T (p.Gly1116Val) c.845-64323G>T (n.845-64323G>T) c.1046G>T (p.Gly349Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.78379781T>A | CA440224122 | FRAS1 | c.3348T>A (p.Gly1116=) c.845-64322T>A (n.845-64322T>A) c.1047T>A (p.Gly349=) | |
| 4 | g.78379781T>C | CA440224125 | FRAS1 | c.3348T>C (p.Gly1116=) c.845-64322T>C (n.845-64322T>C) c.1047T>C (p.Gly349=) | dbSNP |
| 4 | g.78379781T>G | CA440224126 | FRAS1 | c.3348T>G (p.Gly1116=) c.845-64322T>G (n.845-64322T>G) c.1047T>G (p.Gly349=) | |
| 4 | g.78379781T= | CA1470476065 | FRAS1 | c.3348T= (p.Gly1116=) c.845-64322T= (n.845-64322T=) c.1047T= (p.Gly349=) | |
| 4 | g.78379782T>A | CA357375739 | FRAS1 | c.3349T>A (p.Ser1117Thr) c.845-64321T>A (n.845-64321T>A) c.1048T>A (p.Ser350Thr) | |
| 4 | g.78379782T>C | CA357375741 | FRAS1 | c.3349T>C (p.Ser1117Pro) c.845-64321T>C (n.845-64321T>C) c.1048T>C (p.Ser350Pro) | |
| 4 | g.78379782T>G | CA357375743 | FRAS1 | c.3349T>G (p.Ser1117Ala) c.845-64321T>G (n.845-64321T>G) c.1048T>G (p.Ser350Ala) | |
| 4 | g.78379783C>A | CA99951693 | FRAS1 | c.3350C>A (p.Ser1117Ter) c.845-64320C>A (n.845-64320C>A) c.1049C>A (p.Ser350Ter) | dbSNP |
| 4 | g.78379783C= | CA1470476070 | FRAS1 | c.3350C= (p.Ser1117=) c.845-64320C= (n.845-64320C=) c.1049C= (p.Ser350=) | |
| 4 | g.78379783C>G | CA357375746 | FRAS1 | c.3350C>G (p.Ser1117Ter) c.845-64320C>G (n.845-64320C>G) c.1049C>G (p.Ser350Ter) | |
| 4 | g.78379783C>T | CA357375744 | FRAS1 | c.3350C>T (p.Ser1117Leu) c.845-64320C>T (n.845-64320C>T) c.1049C>T (p.Ser350Leu) | |
| 4 | g.78379784A>C | CA440224128 | FRAS1 | c.3351A>C (p.Ser1117=) c.845-64319A>C (n.845-64319A>C) c.1050A>C (p.Ser350=) | |
| 4 | g.78379784A>G | CA440224129 | FRAS1 | c.3351A>G (p.Ser1117=) c.845-64319A>G (n.845-64319A>G) c.1050A>G (p.Ser350=) | gnomAD v4 |
| 4 | g.78379784A>T | CA440224131 | FRAS1 | c.3351A>T (p.Ser1117=) c.845-64319A>T (n.845-64319A>T) c.1050A>T (p.Ser350=) | |
| 4 | g.78379785A= | CA1470476075 | FRAS1 | c.3352A= (p.Ile1118=) c.845-64318A= (n.845-64318A=) c.1051A= (p.Ile351=) | |
| 4 | g.78379785A>C | CA357375747 | FRAS1 | c.3352A>C (p.Ile1118Leu) c.845-64318A>C (n.845-64318A>C) c.1051A>C (p.Ile351Leu) | |
| 4 | g.78379785A>G | CA357375749 | FRAS1 | c.3352A>G (p.Ile1118Val) c.845-64318A>G (n.845-64318A>G) c.1051A>G (p.Ile351Val) | dbSNP gnomAD v4 |
| 4 | g.78379785A>T | CA357375750 | FRAS1 | c.3352A>T (p.Ile1118Leu) c.845-64318A>T (n.845-64318A>T) c.1051A>T (p.Ile351Leu) | gnomAD v4 |
| 4 | g.78379786T>A | CA357375751 | FRAS1 | c.3353T>A (p.Ile1118Lys) c.845-64317T>A (n.845-64317T>A) c.1052T>A (p.Ile351Lys) | |
| 4 | g.78379786T>C | CA357375753 | FRAS1 | c.3353T>C (p.Ile1118Thr) c.845-64317T>C (n.845-64317T>C) c.1052T>C (p.Ile351Thr) | |
| 4 | g.78379786T>G | CA357375755 | FRAS1 | c.3353T>G (p.Ile1118Arg) c.845-64317T>G (n.845-64317T>G) c.1052T>G (p.Ile351Arg) | |
| 4 | g.78379787A>C | CA440224138 | FRAS1 | c.3354A>C (p.Ile1118=) c.845-64316A>C (n.845-64316A>C) c.1053A>C (p.Ile351=) | |
| 4 | g.78379787A>G | CA357375757 | FRAS1 | c.3354A>G (p.Ile1118Met) c.845-64316A>G (n.845-64316A>G) c.1053A>G (p.Ile351Met) | |
| 4 | g.78379787A>T | CA440224135 | FRAS1 | c.3354A>T (p.Ile1118=) c.845-64316A>T (n.845-64316A>T) c.1053A>T (p.Ile351=) | |
| 4 | g.78379788A>C | CA357375759 | FRAS1 | c.3355A>C (p.Lys1119Gln) c.845-64315A>C (n.845-64315A>C) c.1054A>C (p.Lys352Gln) | |
| 4 | g.78379788A>G | CA357375761 | FRAS1 | c.3355A>G (p.Lys1119Glu) c.845-64315A>G (n.845-64315A>G) c.1054A>G (p.Lys352Glu) | |
| 4 | g.78379788A>T | CA357375762 | FRAS1 | c.3355A>T (p.Lys1119Ter) c.845-64315A>T (n.845-64315A>T) c.1054A>T (p.Lys352Ter) | |
| 4 | g.78379789A>C | CA357375764 | FRAS1 | c.3356A>C (p.Lys1119Thr) c.845-64314A>C (n.845-64314A>C) c.1055A>C (p.Lys352Thr) | |
| 4 | g.78379789A>G | CA357375765 | FRAS1 | c.3356A>G (p.Lys1119Arg) c.845-64314A>G (n.845-64314A>G) c.1055A>G (p.Lys352Arg) | |
| 4 | g.78379789A>T | CA357375767 | FRAS1 | c.3356A>T (p.Lys1119Met) c.845-64314A>T (n.845-64314A>T) c.1055A>T (p.Lys352Met) | |
| 4 | g.78379790G>A | CA440224140 | FRAS1 | c.3357G>A (p.Lys1119=) c.845-64313G>A (n.845-64313G>A) c.1056G>A (p.Lys352=) | gnomAD v4 |
| 4 | g.78379790G>C | CA357375768 | FRAS1 | c.3357G>C (p.Lys1119Asn) c.845-64313G>C (n.845-64313G>C) c.1056G>C (p.Lys352Asn) | |
| 4 | g.78379790G>T | CA357375769 | FRAS1 | c.3357G>T (p.Lys1119Asn) c.845-64313G>T (n.845-64313G>T) c.1056G>T (p.Lys352Asn) | |
| 4 | g.78379791C>A | CA357375770 | FRAS1 | c.3358C>A (p.Pro1120Thr) c.845-64312C>A (n.845-64312C>A) c.1057C>A (p.Pro353Thr) | dbSNP gnomAD v2 |
| 4 | g.78379791C= | CA1470476077 | FRAS1 | c.3358C= (p.Pro1120=) c.845-64312C= (n.845-64312C=) c.1057C= (p.Pro353=) | |
| 4 | g.78379791C>G | CA357375771 | FRAS1 | c.3358C>G (p.Pro1120Ala) c.845-64312C>G (n.845-64312C>G) c.1057C>G (p.Pro353Ala) | gnomAD v4 |
| 4 | g.78379791C>T | CA357375772 | FRAS1 | c.3358C>T (p.Pro1120Ser) c.845-64312C>T (n.845-64312C>T) c.1057C>T (p.Pro353Ser) | |
| 4 | g.78379792C>A | CA357375774 | FRAS1 | c.3359C>A (p.Pro1120Gln) c.845-64311C>A (n.845-64311C>A) c.1058C>A (p.Pro353Gln) | |
| 4 | g.78379792C>G | CA357375776 | FRAS1 | c.3359C>G (p.Pro1120Arg) c.845-64311C>G (n.845-64311C>G) c.1058C>G (p.Pro353Arg) | |
| 4 | g.78379792C>T | CA357375778 | FRAS1 | c.3359C>T (p.Pro1120Leu) c.845-64311C>T (n.845-64311C>T) c.1058C>T (p.Pro353Leu) | |
| 4 | g.78379793A= | CA1470476080 | FRAS1 | c.3360A= (p.Pro1120=) c.845-64310A= (n.845-64310A=) c.1059A= (p.Pro353=) | |
| 4 | g.78379793A>C | CA440224152 | FRAS1 | c.3360A>C (p.Pro1120=) c.845-64310A>C (n.845-64310A>C) c.1059A>C (p.Pro353=) | |
| 4 | g.78379793A>G | CA440224153 | FRAS1 | c.3360A>G (p.Pro1120=) c.845-64310A>G (n.845-64310A>G) c.1059A>G (p.Pro353=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.78379793A>T | CA440224155 | FRAS1 | c.3360A>T (p.Pro1120=) c.845-64310A>T (n.845-64310A>T) c.1059A>T (p.Pro353=) | |
| 4 | g.78379794C>A | CA357375782 | FRAS1 | c.3361C>A (p.Leu1121Met) c.845-64309C>A (n.845-64309C>A) c.1060C>A (p.Leu354Met) | |
| 4 | g.78379794C>G | CA357375780 | FRAS1 | c.3361C>G (p.Leu1121Val) c.845-64309C>G (n.845-64309C>G) c.1060C>G (p.Leu354Val) | |
| 4 | g.78379794C>T | CA440224157 | FRAS1 | c.3361C>T (p.Leu1121=) c.845-64309C>T (n.845-64309C>T) c.1060C>T (p.Leu354=) | |
| 4 | g.78379795del | CA2671132747 | FRAS1 | c.3362del (p.Leu1121ArgfsTer6) c.845-64308del (n.845-64308del) c.1061del (p.Leu354ArgfsTer6) | gnomAD v4 |
| 4 | g.78379795T>A | CA357375783 | FRAS1 | c.3362T>A (p.Leu1121Gln) c.845-64308T>A (n.845-64308T>A) c.1061T>A (p.Leu354Gln) | |
| 4 | g.78379795T>C | CA357375784 | FRAS1 | c.3362T>C (p.Leu1121Pro) c.845-64308T>C (n.845-64308T>C) c.1061T>C (p.Leu354Pro) | |
| 4 | g.78379795T>G | CA357375785 | FRAS1 | c.3362T>G (p.Leu1121Arg) c.845-64308T>G (n.845-64308T>G) c.1061T>G (p.Leu354Arg) | gnomAD v4 |
| 4 | g.78379796G>A | CA440224160 | FRAS1 | c.3363G>A (p.Leu1121=) c.845-64307G>A (n.845-64307G>A) c.1062G>A (p.Leu354=) | COSMIC COSMIC COSMIC |
| 4 | g.78379796G>C | CA440224163 | FRAS1 | c.3363G>C (p.Leu1121=) c.845-64307G>C (n.845-64307G>C) c.1062G>C (p.Leu354=) | |
| 4 | g.78379796G>T | CA440224162 | FRAS1 | c.3363G>T (p.Leu1121=) c.845-64307G>T (n.845-64307G>T) c.1062G>T (p.Leu354=) | |
| 4 | g.78379797G>A | CA357375788 | FRAS1 | c.3364G>A (p.Asp1122Asn) c.845-64306G>A (n.845-64306G>A) c.1063G>A (p.Asp355Asn) | COSMIC COSMIC COSMIC |
| 4 | g.78379797G>C | CA357375789 | FRAS1 | c.3364G>C (p.Asp1122His) c.845-64306G>C (n.845-64306G>C) c.1063G>C (p.Asp355His) | |
| 4 | g.78379797G>T | CA357375791 | FRAS1 | c.3364G>T (p.Asp1122Tyr) c.845-64306G>T (n.845-64306G>T) c.1063G>T (p.Asp355Tyr) | gnomAD v4 |
| 4 | g.78379798A= | CA1470476082 | FRAS1 | c.3365A= (p.Asp1122=) c.845-64305A= (n.845-64305A=) c.1064A= (p.Asp355=) | |
| 4 | g.78379798A>C | CA357375796 | FRAS1 | c.3365A>C (p.Asp1122Ala) c.845-64305A>C (n.845-64305A>C) c.1064A>C (p.Asp355Ala) | |
| 4 | g.78379798A>G | CA357375793 | FRAS1 | c.3365A>G (p.Asp1122Gly) c.845-64305A>G (n.845-64305A>G) c.1064A>G (p.Asp355Gly) | |
| 4 | g.78379798A>T | CA357375794 | FRAS1 | c.3365A>T (p.Asp1122Val) c.845-64305A>T (n.845-64305A>T) c.1064A>T (p.Asp355Val) | |
| 4 | g.78379799T>A | CA357375797 | FRAS1 | c.3366T>A (p.Asp1122Glu) c.845-64304T>A (n.845-64304T>A) c.1065T>A (p.Asp355Glu) | |
| 4 | g.78379799T>C | CA440224169 | FRAS1 | c.3366T>C (p.Asp1122=) c.845-64304T>C (n.845-64304T>C) c.1065T>C (p.Asp355=) | |
| 4 | g.78379799T>G | CA357375799 | FRAS1 | c.3366T>G (p.Asp1122Glu) c.845-64304T>G (n.845-64304T>G) c.1065T>G (p.Asp355Glu) | dbSNP |
| 4 | g.78379799T= | CA1470476098 | FRAS1 | c.3366T= (p.Asp1122=) c.845-64304T= (n.845-64304T=) c.1065T= (p.Asp355=) | |
| 4 | g.78379803dup | CA202107 | FRAS1 | c.3370dup (p.Ser1124PhefsTer11) c.845-64300dup (n.845-64300dup) c.1069dup (p.Ser357PhefsTer11) | ClinVar dbSNP gnomAD v4 |
| 4 | g.78379800T>A | CA357375801 | FRAS1 | c.3367T>A (p.Phe1123Ile) c.845-64303T>A (n.845-64303T>A) c.1066T>A (p.Phe356Ile) | |
| 4 | g.78379800T>C | CA357375803 | FRAS1 | c.3367T>C (p.Phe1123Leu) c.845-64303T>C (n.845-64303T>C) c.1066T>C (p.Phe356Leu) | |
| 4 | g.78379800T>G | CA357375805 | FRAS1 | c.3367T>G (p.Phe1123Val) c.845-64303T>G (n.845-64303T>G) c.1066T>G (p.Phe356Val) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.78379800T= | CA1470476100 | FRAS1 | c.3367T= (p.Phe1123=) c.845-64303T= (n.845-64303T=) c.1066T= (p.Phe356=) | |
| 4 | g.78379801T>A | CA357375807 | FRAS1 | c.3368T>A (p.Phe1123Tyr) c.845-64302T>A (n.845-64302T>A) c.1067T>A (p.Phe356Tyr) | |
| 4 | g.78379801T>C | CA357375809 | FRAS1 | c.3368T>C (p.Phe1123Ser) c.845-64302T>C (n.845-64302T>C) c.1067T>C (p.Phe356Ser) | |
| 4 | g.78379801T>G | CA357375811 | FRAS1 | c.3368T>G (p.Phe1123Cys) c.845-64302T>G (n.845-64302T>G) c.1067T>G (p.Phe356Cys) | |
| 4 | g.78379802T>A | CA357375813 | FRAS1 | c.3369T>A (p.Phe1123Leu) c.845-64301T>A (n.845-64301T>A) c.1068T>A (p.Phe356Leu) | |
| 4 | g.78379802T>C | CA440224174 | FRAS1 | c.3369T>C (p.Phe1123=) c.845-64301T>C (n.845-64301T>C) c.1068T>C (p.Phe356=) | |
| 4 | g.78379802T>G | CA357375814 | FRAS1 | c.3369T>G (p.Phe1123Leu) c.845-64301T>G (n.845-64301T>G) c.1068T>G (p.Phe356Leu) | |
| 4 | g.78379803T>A | CA357375816 | FRAS1 | c.3370T>A (p.Ser1124Thr) c.845-64300T>A (n.845-64300T>A) c.1069T>A (p.Ser357Thr) | |
| 4 | g.78379803T>C | CA357375817 | FRAS1 | c.3370T>C (p.Ser1124Pro) c.845-64300T>C (n.845-64300T>C) c.1069T>C (p.Ser357Pro) | |
| 4 | g.78379803T>G | CA357375819 | FRAS1 | c.3370T>G (p.Ser1124Ala) c.845-64300T>G (n.845-64300T>G) c.1069T>G (p.Ser357Ala) | gnomAD v4 |
| 4 | g.78379804C>A | CA357375824 | FRAS1 | c.3371C>A (p.Ser1124Tyr) c.845-64299C>A (n.845-64299C>A) c.1070C>A (p.Ser357Tyr) | |
| 4 | g.78379804C>G | CA357375820 | FRAS1 | c.3371C>G (p.Ser1124Cys) c.845-64299C>G (n.845-64299C>G) c.1070C>G (p.Ser357Cys) | |
| 4 | g.78379804C>T | CA357375822 | FRAS1 | c.3371C>T (p.Ser1124Phe) c.845-64299C>T (n.845-64299C>T) c.1070C>T (p.Ser357Phe) | gnomAD v4 COSMIC COSMIC COSMIC |
| 4 | g.78379804_78379813del | CA2762293841 | FRAS1 | c.3371_3380del (p.Ser1124LeufsTer17) c.845-64299_845-64290del (n.845-64299_845-64290del) c.1070_1079del (p.Ser357LeufsTer17) | |
| 4 | g.78379805C>A | CA440224184 | FRAS1 | c.3372C>A (p.Ser1124=) c.845-64298C>A (n.845-64298C>A) c.1071C>A (p.Ser357=) | |
| 4 | g.78379805C>G | CA440224181 | FRAS1 | c.3372C>G (p.Ser1124=) c.845-64298C>G (n.845-64298C>G) c.1071C>G (p.Ser357=) | |
| 4 | g.78379805C>T | CA440224182 | FRAS1 | c.3372C>T (p.Ser1124=) c.845-64298C>T (n.845-64298C>T) c.1071C>T (p.Ser357=) | |
| 4 | g.78379806C>A | CA357375826 | FRAS1 | c.3373C>A (p.Leu1125Ile) c.845-64297C>A (n.845-64297C>A) c.1072C>A (p.Leu358Ile) | |
| 4 | g.78379806C>G | CA357375828 | FRAS1 | c.3373C>G (p.Leu1125Val) c.845-64297C>G (n.845-64297C>G) c.1072C>G (p.Leu358Val) | |
| 4 | g.78379806C>T | CA357375830 | FRAS1 | c.3373C>T (p.Leu1125Phe) c.845-64297C>T (n.845-64297C>T) c.1072C>T (p.Leu358Phe) | |
| 4 | g.78379807T>A | CA357375832 | FRAS1 | c.3374T>A (p.Leu1125His) c.845-64296T>A (n.845-64296T>A) c.1073T>A (p.Leu358His) | gnomAD v4 |
| 4 | g.78379807T>C | CA357375834 | FRAS1 | c.3374T>C (p.Leu1125Pro) c.845-64296T>C (n.845-64296T>C) c.1073T>C (p.Leu358Pro) | |
| 4 | g.78379807T>G | CA357375836 | FRAS1 | c.3374T>G (p.Leu1125Arg) c.845-64296T>G (n.845-64296T>G) c.1073T>G (p.Leu358Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.78379807T= | CA1470476103 | FRAS1 | c.3374T= (p.Leu1125=) c.845-64296T= (n.845-64296T=) c.1073T= (p.Leu358=) | |
| 4 | g.78379808C>A | CA440224190 | FRAS1 | c.3375C>A (p.Leu1125=) c.845-64295C>A (n.845-64295C>A) c.1074C>A (p.Leu358=) | |
| 4 | g.78379808C>G | CA440224191 | FRAS1 | c.3375C>G (p.Leu1125=) c.845-64295C>G (n.845-64295C>G) c.1074C>G (p.Leu358=) | |
| 4 | g.78379808C>T | CA440224192 | FRAS1 | c.3375C>T (p.Leu1125=) c.845-64295C>T (n.845-64295C>T) c.1074C>T (p.Leu358=) | |
| 4 | g.78379809C>A | CA357375839 | FRAS1 | c.3376C>A (p.Leu1126Met) c.845-64294C>A (n.845-64294C>A) c.1075C>A (p.Leu359Met) | |
| 4 | g.78379809C>G | CA357375837 | FRAS1 | c.3376C>G (p.Leu1126Val) c.845-64294C>G (n.845-64294C>G) c.1075C>G (p.Leu359Val) | |
| 4 | g.78379809C>T | CA440224197 | FRAS1 | c.3376C>T (p.Leu1126=) c.845-64294C>T (n.845-64294C>T) c.1075C>T (p.Leu359=) | |
| 4 | g.78379810T>A | CA357375841 | FRAS1 | c.3377T>A (p.Leu1126Gln) c.845-64293T>A (n.845-64293T>A) c.1076T>A (p.Leu359Gln) | |
| 4 | g.78379810T>C | CA357375843 | FRAS1 | c.3377T>C (p.Leu1126Pro) c.845-64293T>C (n.845-64293T>C) c.1076T>C (p.Leu359Pro) | |
| 4 | g.78379810T>G | CA357375845 | FRAS1 | c.3377T>G (p.Leu1126Arg) c.845-64293T>G (n.845-64293T>G) c.1076T>G (p.Leu359Arg) | |
| 4 | g.78379811G>A | CA440224204 | FRAS1 | c.3378G>A (p.Leu1126=) c.845-64292G>A (n.845-64292G>A) c.1077G>A (p.Leu359=) | dbSNP gnomAD v4 |
| 4 | g.78379811G>C | CA440224208 | FRAS1 | c.3378G>C (p.Leu1126=) c.845-64292G>C (n.845-64292G>C) c.1077G>C (p.Leu359=) | |
| 4 | g.78379811G= | CA1470476110 | FRAS1 | c.3378G= (p.Leu1126=) c.845-64292G= (n.845-64292G=) c.1077G= (p.Leu359=) | |
| 4 | g.78379811G>T | CA440224206 | FRAS1 | c.3378G>T (p.Leu1126=) c.845-64292G>T (n.845-64292G>T) c.1077G>T (p.Leu359=) | |
| 4 | g.78379812A>C | CA357375847 | FRAS1 | c.3379A>C (p.Asn1127His) c.845-64291A>C (n.845-64291A>C) c.1078A>C (p.Asn360His) | |
| 4 | g.78379812A>G | CA357375849 | FRAS1 | c.3379A>G (p.Asn1127Asp) c.845-64291A>G (n.845-64291A>G) c.1078A>G (p.Asn360Asp) | |
| 4 | g.78379812A>T | CA357375851 | FRAS1 | c.3379A>T (p.Asn1127Tyr) c.845-64291A>T (n.845-64291A>T) c.1078A>T (p.Asn360Tyr) | |
| 4 | g.78379813dup | CA440224211 | FRAS1 | c.3380dup (p.Asn1127LysfsTer8) c.845-64290dup (n.845-64290dup) c.1079dup (p.Asn360LysfsTer8) | COSMIC |
| 4 | g.78379812_78379814del | CA2671132748 | FRAS1 | c.3379_3381del (p.Asn1127del) c.845-64291_845-64289del (n.845-64291_845-64289del) c.1078_1080del (p.Asn360del) | gnomAD v4 |
| 4 | g.78379813A>C | CA357375853 | FRAS1 | c.3380A>C (p.Asn1127Thr) c.845-64290A>C (n.845-64290A>C) c.1079A>C (p.Asn360Thr) | |
| 4 | g.78379813A>G | CA357375855 | FRAS1 | c.3380A>G (p.Asn1127Ser) c.845-64290A>G (n.845-64290A>G) c.1079A>G (p.Asn360Ser) | |
| 4 | g.78379813A>T | CA357375854 | FRAS1 | c.3380A>T (p.Asn1127Ile) c.845-64290A>T (n.845-64290A>T) c.1079A>T (p.Asn360Ile) | gnomAD v4 |