Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.142515351T>C | CA899915263 | ATR | c.4503+44A>G (n.4503+44A>G) n.4532+44A>G c.3293+44A>G c.4311+44A>G (n.4311+44A>G) c.4509+44A>G (n.4509+44A>G) c.4317+44A>G (n.4317+44A>G) n.4598+44A>G n.4592+44A>G | dbSNP gnomAD v4 |
3 | g.142515351T>G | CA899915264 | ATR | c.4503+44A>C (n.4503+44A>C) n.4532+44A>C c.3293+44A>C c.4311+44A>C (n.4311+44A>C) c.4509+44A>C (n.4509+44A>C) c.4317+44A>C (n.4317+44A>C) n.4598+44A>C n.4592+44A>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.142515351T= | CA1407011941 | ATR | c.4503+44A= (n.4503+44A=) n.4532+44A= c.3293+44A= c.4311+44A= (n.4311+44A=) c.4509+44A= (n.4509+44A=) c.4317+44A= (n.4317+44A=) n.4598+44A= n.4592+44A= | |
3 | g.142515357A= | CA1407011942 | ATR | c.4503+38T= (n.4503+38T=) n.4532+38T= c.3293+38T= c.4311+38T= (n.4311+38T=) c.4509+38T= (n.4509+38T=) c.4317+38T= (n.4317+38T=) n.4598+38T= n.4592+38T= | |
3 | g.142515357A>C | CA2649834 | ATR | c.4503+38T>G (n.4503+38T>G) n.4532+38T>G c.3293+38T>G c.4311+38T>G (n.4311+38T>G) c.4509+38T>G (n.4509+38T>G) c.4317+38T>G (n.4317+38T>G) n.4598+38T>G n.4592+38T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.142515358T>C | CA84720551 | ATR | c.4503+37A>G (n.4503+37A>G) n.4532+37A>G c.3293+37A>G c.4311+37A>G (n.4311+37A>G) c.4509+37A>G (n.4509+37A>G) c.4317+37A>G (n.4317+37A>G) n.4598+37A>G n.4592+37A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142515358T= | CA1407011943 | ATR | c.4503+37A= (n.4503+37A=) n.4532+37A= c.3293+37A= c.4311+37A= (n.4311+37A=) c.4509+37A= (n.4509+37A=) c.4317+37A= (n.4317+37A=) n.4598+37A= n.4592+37A= | |
3 | g.142515361C>G | CA2668041874 | ATR | c.4503+34G>C (n.4503+34G>C) n.4532+34G>C c.3293+34G>C c.4311+34G>C (n.4311+34G>C) c.4509+34G>C (n.4509+34G>C) c.4317+34G>C (n.4317+34G>C) n.4598+34G>C n.4592+34G>C | gnomAD v4 |
3 | g.142515362C>T | CA2758701892 | ATR | c.4503+33G>A (n.4503+33G>A) n.4532+33G>A c.3293+33G>A c.4311+33G>A (n.4311+33G>A) c.4509+33G>A (n.4509+33G>A) c.4317+33G>A (n.4317+33G>A) n.4598+33G>A n.4592+33G>A | |
3 | g.142515363A= | CA1407011944 | ATR | c.4503+32T= (n.4503+32T=) n.4532+32T= c.3293+32T= c.4311+32T= (n.4311+32T=) c.4509+32T= (n.4509+32T=) c.4317+32T= (n.4317+32T=) n.4598+32T= n.4592+32T= | |
3 | g.142515363A>G | CA1407011945 | ATR | c.4503+32T>C (n.4503+32T>C) n.4532+32T>C c.3293+32T>C c.4311+32T>C (n.4311+32T>C) c.4509+32T>C (n.4509+32T>C) c.4317+32T>C (n.4317+32T>C) n.4598+32T>C n.4592+32T>C | dbSNP |
3 | g.142515364T>C | CA436107543 | ATR | c.4503+31A>G (n.4503+31A>G) n.4532+31A>G c.3293+31A>G c.4311+31A>G (n.4311+31A>G) c.4509+31A>G (n.4509+31A>G) c.4317+31A>G (n.4317+31A>G) n.4598+31A>G n.4592+31A>G | dbSNP |
3 | g.142515364T= | CA1407011946 | ATR | c.4503+31A= (n.4503+31A=) n.4532+31A= c.3293+31A= c.4311+31A= (n.4311+31A=) c.4509+31A= (n.4509+31A=) c.4317+31A= (n.4317+31A=) n.4598+31A= n.4592+31A= | |
3 | g.142515366C>T | CA2704276307 | ATR | c.4503+29G>A (n.4503+29G>A) n.4532+29G>A c.3293+29G>A c.4311+29G>A (n.4311+29G>A) c.4509+29G>A (n.4509+29G>A) c.4317+29G>A (n.4317+29G>A) n.4598+29G>A n.4592+29G>A | dbSNP |
3 | g.142515366_142515368del | CA2668041875 | ATR | c.4503+27_4503+29del (n.4503+27_4503+29del) n.4532+27_4532+29del c.3293+27_3293+29del c.4311+27_4311+29del (n.4311+27_4311+29del) c.4509+27_4509+29del (n.4509+27_4509+29del) c.4317+27_4317+29del (n.4317+27_4317+29del) n.4598+27_4598+29del n.4592+27_4592+29del | gnomAD v4 |
3 | g.142515367A= | CA1407011947 | ATR | c.4503+28T= (n.4503+28T=) n.4532+28T= c.3293+28T= c.4311+28T= (n.4311+28T=) c.4509+28T= (n.4509+28T=) c.4317+28T= (n.4317+28T=) n.4598+28T= n.4592+28T= | |
3 | g.142515367A>G | CA1407011948 | ATR | c.4503+28T>C (n.4503+28T>C) n.4532+28T>C c.3293+28T>C c.4311+28T>C (n.4311+28T>C) c.4509+28T>C (n.4509+28T>C) c.4317+28T>C (n.4317+28T>C) n.4598+28T>C n.4592+28T>C | dbSNP gnomAD v4 |
3 | g.142515368G>C | CA2577942550 | ATR | c.4503+27C>G (n.4503+27C>G) n.4532+27C>G c.3293+27C>G c.4311+27C>G (n.4311+27C>G) c.4509+27C>G (n.4509+27C>G) c.4317+27C>G (n.4317+27C>G) n.4598+27C>G n.4592+27C>G | gnomAD v4 |
3 | g.142515373C>T | CA2704276366 | ATR | c.4503+22G>A (n.4503+22G>A) n.4532+22G>A c.3293+22G>A c.4311+22G>A (n.4311+22G>A) c.4509+22G>A (n.4509+22G>A) c.4317+22G>A (n.4317+22G>A) n.4598+22G>A n.4592+22G>A | dbSNP |
3 | g.142515375A>T | CA2577942551 | ATR | c.4503+20T>A (n.4503+20T>A) n.4532+20T>A c.3293+20T>A c.4311+20T>A (n.4311+20T>A) c.4509+20T>A (n.4509+20T>A) c.4317+20T>A (n.4317+20T>A) n.4598+20T>A n.4592+20T>A | |
3 | g.142515376A= | CA1407011949 | ATR | c.4503+19T= (n.4503+19T=) n.4532+19T= c.3293+19T= c.4311+19T= (n.4311+19T=) c.4509+19T= (n.4509+19T=) c.4317+19T= (n.4317+19T=) n.4598+19T= n.4592+19T= | |
3 | g.142515376A>G | CA899915270 | ATR | c.4503+19T>C (n.4503+19T>C) n.4532+19T>C c.3293+19T>C c.4311+19T>C (n.4311+19T>C) c.4509+19T>C (n.4509+19T>C) c.4317+19T>C (n.4317+19T>C) n.4598+19T>C n.4592+19T>C | ClinVar dbSNP gnomAD v4 |
3 | g.142515376A>T | CA2649835 | ATR | c.4503+19T>A (n.4503+19T>A) n.4532+19T>A c.3293+19T>A c.4311+19T>A (n.4311+19T>A) c.4509+19T>A (n.4509+19T>A) c.4317+19T>A (n.4317+19T>A) n.4598+19T>A n.4592+19T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.142515377C>T | CA2668041876 | ATR | c.4503+18G>A (n.4503+18G>A) n.4532+18G>A c.3293+18G>A c.4311+18G>A (n.4311+18G>A) c.4509+18G>A (n.4509+18G>A) c.4317+18G>A (n.4317+18G>A) n.4598+18G>A n.4592+18G>A | gnomAD v4 |
3 | g.142515379G>A | CA1407011951 | ATR | c.4503+16C>T (n.4503+16C>T) n.4532+16C>T c.3293+16C>T c.4311+16C>T (n.4311+16C>T) c.4509+16C>T (n.4509+16C>T) c.4317+16C>T (n.4317+16C>T) n.4598+16C>T n.4592+16C>T | dbSNP |
3 | g.142515379G= | CA1407011950 | ATR | c.4503+16C= (n.4503+16C=) n.4532+16C= c.3293+16C= c.4311+16C= (n.4311+16C=) c.4509+16C= (n.4509+16C=) c.4317+16C= (n.4317+16C=) n.4598+16C= n.4592+16C= | |
3 | g.142515381dup | CA546573546 | ATR | c.4503+15dup (n.4503+15dup) n.4532+15dup c.3293+15dup c.4311+15dup (n.4311+15dup) c.4509+15dup (n.4509+15dup) c.4317+15dup (n.4317+15dup) n.4598+15dup n.4592+15dup | dbSNP gnomAD v2 gnomAD v4 |
3 | g.142515382C= | CA1407011952 | ATR | c.4503+13G= (n.4503+13G=) n.4532+13G= c.3293+13G= c.4311+13G= (n.4311+13G=) c.4509+13G= (n.4509+13G=) c.4317+13G= (n.4317+13G=) n.4598+13G= n.4592+13G= | |
3 | g.142515382C>T | CA84720565 | ATR | c.4503+13G>A (n.4503+13G>A) n.4532+13G>A c.3293+13G>A c.4311+13G>A (n.4311+13G>A) c.4509+13G>A (n.4509+13G>A) c.4317+13G>A (n.4317+13G>A) n.4598+13G>A n.4592+13G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.142515383A>G | CA2577942552 | ATR | c.4503+12T>C (n.4503+12T>C) n.4532+12T>C c.3293+12T>C c.4311+12T>C (n.4311+12T>C) c.4509+12T>C (n.4509+12T>C) c.4317+12T>C (n.4317+12T>C) n.4598+12T>C n.4592+12T>C | gnomAD v4 |
3 | g.142515384G>A | CA648574151 | ATR | c.4503+11C>T (n.4503+11C>T) n.4532+11C>T c.3293+11C>T c.4311+11C>T (n.4311+11C>T) c.4509+11C>T (n.4509+11C>T) c.4317+11C>T (n.4317+11C>T) n.4598+11C>T n.4592+11C>T | gnomAD v4 COSMIC |
3 | g.142515384G>C | CA546573549 | ATR | c.4503+11C>G (n.4503+11C>G) n.4532+11C>G c.3293+11C>G c.4311+11C>G (n.4311+11C>G) c.4509+11C>G (n.4509+11C>G) c.4317+11C>G (n.4317+11C>G) n.4598+11C>G n.4592+11C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.142515384G= | CA1407011953 | ATR | c.4503+11C= (n.4503+11C=) n.4532+11C= c.3293+11C= c.4311+11C= (n.4311+11C=) c.4509+11C= (n.4509+11C=) c.4317+11C= (n.4317+11C=) n.4598+11C= n.4592+11C= | |
3 | g.142515385G>A | CA1407011955 | ATR | c.4503+10C>T (n.4503+10C>T) n.4532+10C>T c.3293+10C>T c.4311+10C>T (n.4311+10C>T) c.4509+10C>T (n.4509+10C>T) c.4317+10C>T (n.4317+10C>T) n.4598+10C>T n.4592+10C>T | dbSNP |
3 | g.142515385G>C | CA2704078840 | ATR | c.4503+10C>G (n.4503+10C>G) n.4532+10C>G c.3293+10C>G c.4311+10C>G (n.4311+10C>G) c.4509+10C>G (n.4509+10C>G) c.4317+10C>G (n.4317+10C>G) n.4598+10C>G n.4592+10C>G | dbSNP |
3 | g.142515385G= | CA1407011954 | ATR | c.4503+10C= (n.4503+10C=) n.4532+10C= c.3293+10C= c.4311+10C= (n.4311+10C=) c.4509+10C= (n.4509+10C=) c.4317+10C= (n.4317+10C=) n.4598+10C= n.4592+10C= | |
3 | g.142515386G>T | CA2520333654 | ATR | c.4503+9C>A (n.4503+9C>A) n.4532+9C>A c.3293+9C>A c.4311+9C>A (n.4311+9C>A) c.4509+9C>A (n.4509+9C>A) c.4317+9C>A (n.4317+9C>A) n.4598+9C>A n.4592+9C>A | gnomAD v4 |
3 | g.142515386_142515387delinsGT | CA1407011956 | ATR | c.4503+8_4503+9delinsAC (n.4503+8_4503+9delinsAC) n.4532+8_4532+9delinsAC c.3293+8_3293+9delinsAC c.4311+8_4311+9delinsAC (n.4311+8_4311+9delinsAC) c.4509+8_4509+9delinsAC (n.4509+8_4509+9delinsAC) c.4317+8_4317+9delinsAC (n.4317+8_4317+9delinsAC) n.4598+8_4598+9delinsAC n.4592+8_4592+9delinsAC | |
3 | g.142515387T>C | CA2649836 | ATR | c.4503+8A>G (n.4503+8A>G) n.4532+8A>G c.3293+8A>G c.4311+8A>G (n.4311+8A>G) c.4509+8A>G (n.4509+8A>G) c.4317+8A>G (n.4317+8A>G) n.4598+8A>G n.4592+8A>G | dbSNP ExAC gnomAD v2 |
3 | g.142515387T= | CA1407011957 | ATR | c.4503+8A= (n.4503+8A=) n.4532+8A= c.3293+8A= c.4311+8A= (n.4311+8A=) c.4509+8A= (n.4509+8A=) c.4317+8A= (n.4317+8A=) n.4598+8A= n.4592+8A= | |
3 | g.142515389del | CA1407011958 | ATR | c.4503+8del (n.4503+8del) n.4532+8del c.3293+8del c.4311+8del (n.4311+8del) c.4509+8del (n.4509+8del) c.4317+8del (n.4317+8del) n.4598+8del n.4592+8del | ClinVar dbSNP gnomAD v4 |
3 | g.142515391T>C | CA2577942553 | ATR | c.4503+4A>G (n.4503+4A>G) n.4532+4A>G c.3293+4A>G c.4311+4A>G (n.4311+4A>G) c.4509+4A>G (n.4509+4A>G) c.4317+4A>G (n.4317+4A>G) n.4598+4A>G n.4592+4A>G | |
3 | g.142515392T>C | CA546573551 | ATR | c.4503+3A>G (n.4503+3A>G) n.4532+3A>G c.3293+3A>G c.4311+3A>G (n.4311+3A>G) c.4509+3A>G (n.4509+3A>G) c.4317+3A>G (n.4317+3A>G) n.4598+3A>G n.4592+3A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.142515392T= | CA1407011960 | ATR | c.4503+3A= (n.4503+3A=) n.4532+3A= c.3293+3A= c.4311+3A= (n.4311+3A=) c.4509+3A= (n.4509+3A=) c.4317+3A= (n.4317+3A=) n.4598+3A= n.4592+3A= | |
3 | g.142515392_142515409delinsTACCTTTGTAATAAGATA | CA1407011959 | ATR | c.4489_4503+3delinsTATCTTATTACAAAGGTA n.4518_4532+3delinsTATCTTATTACAAAGGTA c.3279_3293+3delinsTATCTTATTACAAAGGTA c.4297_4311+3delinsTATCTTATTACAAAGGTA c.4495_4509+3delinsTATCTTATTACAAAGGTA c.4303_4317+3delinsTATCTTATTACAAAGGTA n.4584_4598+3delinsTATCTTATTACAAAGGTA n.4578_4592+3delinsTATCTTATTACAAAGGTA | |
3 | g.142515393A>C | CA354797590 | ATR | c.4503+2T>G (n.4503+2T>G) n.4532+2T>G c.3293+2T>G c.4311+2T>G (n.4311+2T>G) c.4509+2T>G (n.4509+2T>G) c.4317+2T>G (n.4317+2T>G) n.4598+2T>G n.4592+2T>G | |
3 | g.142515393A>G | CA354797592 | ATR | c.4503+2T>C (n.4503+2T>C) n.4532+2T>C c.3293+2T>C c.4311+2T>C (n.4311+2T>C) c.4509+2T>C (n.4509+2T>C) c.4317+2T>C (n.4317+2T>C) n.4598+2T>C n.4592+2T>C | dbSNP |
3 | g.142515393A>T | CA354797585 | ATR | c.4503+2T>A (n.4503+2T>A) n.4532+2T>A c.3293+2T>A c.4311+2T>A (n.4311+2T>A) c.4509+2T>A (n.4509+2T>A) c.4317+2T>A (n.4317+2T>A) n.4598+2T>A n.4592+2T>A | |
3 | g.142515397_142515413del | CA2649837 | ATR | c.4489_4503+2del n.4518_4532+2del c.3279_3293+2del c.4297_4311+2del c.4495_4509+2del c.4303_4317+2del n.4584_4598+2del n.4578_4592+2del | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.142515394C>A | CA354797600 | ATR | c.4503+1G>T (n.4503+1G>T) n.4532+1G>T c.3293+1G>T c.4311+1G>T (n.4311+1G>T) c.4509+1G>T (n.4509+1G>T) c.4317+1G>T (n.4317+1G>T) n.4598+1G>T n.4592+1G>T | |
3 | g.142515394C>G | CA354797602 | ATR | c.4503+1G>C (n.4503+1G>C) n.4532+1G>C c.3293+1G>C c.4311+1G>C (n.4311+1G>C) c.4509+1G>C (n.4509+1G>C) c.4317+1G>C (n.4317+1G>C) n.4598+1G>C n.4592+1G>C | |
3 | g.142515394C>T | CA354797607 | ATR | c.4503+1G>A (n.4503+1G>A) n.4532+1G>A c.3293+1G>A c.4311+1G>A (n.4311+1G>A) c.4509+1G>A (n.4509+1G>A) c.4317+1G>A (n.4317+1G>A) n.4598+1G>A n.4592+1G>A | |
3 | g.142515395C>A | CA354797610 | ATR | c.4503G>T (p.Lys1501Asn) n.4532G>T c.3293G>T c.4311G>T (p.Lys1437Asn) c.4509G>T (p.Lys1503Asn) c.4317G>T (p.Lys1439Asn) n.4598G>T n.4592G>T | |
3 | g.142515395C>G | CA354797612 | ATR | c.4503G>C (p.Lys1501Asn) n.4532G>C c.3293G>C c.4311G>C (p.Lys1437Asn) c.4509G>C (p.Lys1503Asn) c.4317G>C (p.Lys1439Asn) n.4598G>C n.4592G>C | |
3 | g.142515395C>T | CA436107608 | ATR | c.4503G>A (p.Lys1501=) n.4532G>A c.3293G>A c.4311G>A (p.Lys1437=) c.4509G>A (p.Lys1503=) c.4317G>A (p.Lys1439=) n.4598G>A n.4592G>A | |
3 | g.142515395_142515402delinsCTTTGTAA | CA1407011961 | ATR | c.4496_4503delinsTTACAAAG (p.Ile1499=) n.4525_4532delinsTTACAAAG c.3286_3293delinsTTACAAAG c.4304_4311delinsTTACAAAG (p.Ile1435=) c.4502_4509delinsTTACAAAG (p.Ile1501=) c.4310_4317delinsTTACAAAG (p.Ile1437=) n.4591_4598delinsTTACAAAG n.4585_4592delinsTTACAAAG | |
3 | g.142515396T>A | CA354797620 | ATR | c.4502A>T (p.Lys1501Met) n.4531A>T c.3292A>T c.4310A>T (p.Lys1437Met) c.4508A>T (p.Lys1503Met) c.4316A>T (p.Lys1439Met) n.4597A>T n.4591A>T | |
3 | g.142515396T>C | CA354797623 | ATR | c.4502A>G (p.Lys1501Arg) n.4531A>G c.3292A>G c.4310A>G (p.Lys1437Arg) c.4508A>G (p.Lys1503Arg) c.4316A>G (p.Lys1439Arg) n.4597A>G n.4591A>G | gnomAD v4 |
3 | g.142515396T>G | CA354797626 | ATR | c.4502A>C (p.Lys1501Thr) n.4531A>C c.3292A>C c.4310A>C (p.Lys1437Thr) c.4508A>C (p.Lys1503Thr) c.4316A>C (p.Lys1439Thr) n.4597A>C n.4591A>C | |
3 | g.142515397_142515403del | CA2649838 | ATR | c.4496_4502del (p.Ile1499ArgfsTer17) n.4525_4531del c.3286_3292del c.4304_4310del (p.Ile1435ArgfsTer17) c.4502_4508del (p.Ile1501ArgfsTer17) c.4310_4316del (p.Ile1437ArgfsTer17) n.4591_4597del n.4585_4591del | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.142515397T>A | CA354797642 | ATR | c.4501A>T (p.Lys1501Ter) n.4530A>T c.3291A>T c.4309A>T (p.Lys1437Ter) c.4507A>T (p.Lys1503Ter) c.4315A>T (p.Lys1439Ter) n.4596A>T n.4590A>T | |
3 | g.142515397T>C | CA354797645 | ATR | c.4501A>G (p.Lys1501Glu) n.4530A>G c.3291A>G c.4309A>G (p.Lys1437Glu) c.4507A>G (p.Lys1503Glu) c.4315A>G (p.Lys1439Glu) n.4596A>G n.4590A>G | |
3 | g.142515397T>G | CA354797649 | ATR | c.4501A>C (p.Lys1501Gln) n.4530A>C c.3291A>C c.4309A>C (p.Lys1437Gln) c.4507A>C (p.Lys1503Gln) c.4315A>C (p.Lys1439Gln) n.4596A>C n.4590A>C | |
3 | g.142515398T>A | CA436107649 | ATR | c.4500A>T (p.Thr1500=) n.4529A>T c.3290A>T c.4308A>T (p.Thr1436=) c.4506A>T (p.Thr1502=) c.4314A>T (p.Thr1438=) n.4595A>T n.4589A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142515398T>C | CA436107646 | ATR | c.4500A>G (p.Thr1500=) n.4529A>G c.3290A>G c.4308A>G (p.Thr1436=) c.4506A>G (p.Thr1502=) c.4314A>G (p.Thr1438=) n.4595A>G n.4589A>G | |
3 | g.142515398T>G | CA436107651 | ATR | c.4500A>C (p.Thr1500=) n.4529A>C c.3290A>C c.4308A>C (p.Thr1436=) c.4506A>C (p.Thr1502=) c.4314A>C (p.Thr1438=) n.4595A>C n.4589A>C | |
3 | g.142515398T= | CA1407011962 | ATR | c.4500A= (p.Thr1500=) n.4529A= c.3290A= c.4308A= (p.Thr1436=) c.4506A= (p.Thr1502=) c.4314A= (p.Thr1438=) n.4595A= n.4589A= | |
3 | g.142515399G>A | CA354797656 | ATR | c.4499C>T (p.Thr1500Ile) n.4528C>T c.3289C>T c.4307C>T (p.Thr1436Ile) c.4505C>T (p.Thr1502Ile) c.4313C>T (p.Thr1438Ile) n.4594C>T n.4588C>T | ClinVar gnomAD v4 |
3 | g.142515399G>C | CA354797658 | ATR | c.4499C>G (p.Thr1500Arg) n.4528C>G c.3289C>G c.4307C>G (p.Thr1436Arg) c.4505C>G (p.Thr1502Arg) c.4313C>G (p.Thr1438Arg) n.4594C>G n.4588C>G | |
3 | g.142515399G>T | CA354797653 | ATR | c.4499C>A (p.Thr1500Lys) n.4528C>A c.3289C>A c.4307C>A (p.Thr1436Lys) c.4505C>A (p.Thr1502Lys) c.4313C>A (p.Thr1438Lys) n.4594C>A n.4588C>A | |
3 | g.142515400T>A | CA354797666 | ATR | c.4498A>T (p.Thr1500Ser) n.4527A>T c.3288A>T c.4306A>T (p.Thr1436Ser) c.4504A>T (p.Thr1502Ser) c.4312A>T (p.Thr1438Ser) n.4593A>T n.4587A>T | |
3 | g.142515400T>C | CA354797669 | ATR | c.4498A>G (p.Thr1500Ala) n.4527A>G c.3288A>G c.4306A>G (p.Thr1436Ala) c.4504A>G (p.Thr1502Ala) c.4312A>G (p.Thr1438Ala) n.4593A>G n.4587A>G | ClinVar |
3 | g.142515400T>G | CA354797671 | ATR | c.4498A>C (p.Thr1500Pro) n.4527A>C c.3288A>C c.4306A>C (p.Thr1436Pro) c.4504A>C (p.Thr1502Pro) c.4312A>C (p.Thr1438Pro) n.4593A>C n.4587A>C | |
3 | g.142515401A>C | CA354797674 | ATR | c.4497T>G (p.Ile1499Met) n.4526T>G c.3287T>G c.4305T>G (p.Ile1435Met) c.4503T>G (p.Ile1501Met) c.4311T>G (p.Ile1437Met) n.4592T>G n.4586T>G | |
3 | g.142515401A>G | CA436107681 | ATR | c.4497T>C (p.Ile1499=) n.4526T>C c.3287T>C c.4305T>C (p.Ile1435=) c.4503T>C (p.Ile1501=) c.4311T>C (p.Ile1437=) n.4592T>C n.4586T>C | dbSNP |
3 | g.142515401A>T | CA436107685 | ATR | c.4497T>A (p.Ile1499=) n.4526T>A c.3287T>A c.4305T>A (p.Ile1435=) c.4503T>A (p.Ile1501=) c.4311T>A (p.Ile1437=) n.4592T>A n.4586T>A | ClinVar |
3 | g.142515402A>C | CA354797678 | ATR | c.4496T>G (p.Ile1499Ser) n.4525T>G c.3286T>G c.4304T>G (p.Ile1435Ser) c.4502T>G (p.Ile1501Ser) c.4310T>G (p.Ile1437Ser) n.4591T>G n.4585T>G | |
3 | g.142515402A>G | CA354797684 | ATR | c.4496T>C (p.Ile1499Thr) n.4525T>C c.3286T>C c.4304T>C (p.Ile1435Thr) c.4502T>C (p.Ile1501Thr) c.4310T>C (p.Ile1437Thr) n.4591T>C n.4585T>C | ClinVar gnomAD v4 |
3 | g.142515402A>T | CA354797688 | ATR | c.4496T>A (p.Ile1499Asn) n.4525T>A c.3286T>A c.4304T>A (p.Ile1435Asn) c.4502T>A (p.Ile1501Asn) c.4310T>A (p.Ile1437Asn) n.4591T>A n.4585T>A | |
3 | g.142515403T>A | CA354797694 | ATR | c.4495A>T (p.Ile1499Phe) n.4524A>T c.3285A>T c.4303A>T (p.Ile1435Phe) c.4501A>T (p.Ile1501Phe) c.4309A>T (p.Ile1437Phe) n.4590A>T n.4584A>T | |
3 | g.142515403T>C | CA354797708 | ATR | c.4495A>G (p.Ile1499Val) n.4524A>G c.3285A>G c.4303A>G (p.Ile1435Val) c.4501A>G (p.Ile1501Val) c.4309A>G (p.Ile1437Val) n.4590A>G n.4584A>G | ClinVar dbSNP gnomAD v4 |
3 | g.142515403T>G | CA354797699 | ATR | c.4495A>C (p.Ile1499Leu) n.4524A>C c.3285A>C c.4303A>C (p.Ile1435Leu) c.4501A>C (p.Ile1501Leu) c.4309A>C (p.Ile1437Leu) n.4590A>C n.4584A>C | |
3 | g.142515403T= | CA1407011963 | ATR | c.4495A= (p.Ile1499=) n.4524A= c.3285A= c.4303A= (p.Ile1435=) c.4501A= (p.Ile1501=) c.4309A= (p.Ile1437=) n.4590A= n.4584A= | |
3 | g.142515404A= | CA1407011964 | ATR | c.4494T= (p.Leu1498=) n.4523T= c.3284T= c.4302T= (p.Leu1434=) c.4500T= (p.Leu1500=) c.4308T= (p.Leu1436=) n.4589T= n.4583T= | |
3 | g.142515404A>C | CA2649839 | ATR | c.4494T>G (p.Leu1498=) n.4523T>G c.3284T>G c.4302T>G (p.Leu1434=) c.4500T>G (p.Leu1500=) c.4308T>G (p.Leu1436=) n.4589T>G n.4583T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.142515404A>G | CA436107710 | ATR | c.4494T>C (p.Leu1498=) n.4523T>C c.3284T>C c.4302T>C (p.Leu1434=) c.4500T>C (p.Leu1500=) c.4308T>C (p.Leu1436=) n.4589T>C n.4583T>C | ClinVar |
3 | g.142515404A>T | CA436107714 | ATR | c.4494T>A (p.Leu1498=) n.4523T>A c.3284T>A c.4302T>A (p.Leu1434=) c.4500T>A (p.Leu1500=) c.4308T>A (p.Leu1436=) n.4589T>A n.4583T>A | |
3 | g.142515405A= | CA1407011965 | ATR | c.4493T= (p.Leu1498=) n.4522T= c.3283T= c.4301T= (p.Leu1434=) c.4499T= (p.Leu1500=) c.4307T= (p.Leu1436=) n.4588T= n.4582T= | |
3 | g.142515405A>C | CA354797715 | ATR | c.4493T>G (p.Leu1498Arg) n.4522T>G c.3283T>G c.4301T>G (p.Leu1434Arg) c.4499T>G (p.Leu1500Arg) c.4307T>G (p.Leu1436Arg) n.4588T>G n.4582T>G | dbSNP |
3 | g.142515405A>G | CA354797716 | ATR | c.4493T>C (p.Leu1498Pro) n.4522T>C c.3283T>C c.4301T>C (p.Leu1434Pro) c.4499T>C (p.Leu1500Pro) c.4307T>C (p.Leu1436Pro) n.4588T>C n.4582T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.142515405A>T | CA354797717 | ATR | c.4493T>A (p.Leu1498His) n.4522T>A c.3283T>A c.4301T>A (p.Leu1434His) c.4499T>A (p.Leu1500His) c.4307T>A (p.Leu1436His) n.4588T>A n.4582T>A | |
3 | g.142515406G>A | CA354797719 | ATR | c.4492C>T (p.Leu1498Phe) n.4521C>T c.3282C>T c.4300C>T (p.Leu1434Phe) c.4498C>T (p.Leu1500Phe) c.4306C>T (p.Leu1436Phe) n.4587C>T n.4581C>T | |
3 | g.142515406G>C | CA354797739 | ATR | c.4492C>G (p.Leu1498Val) n.4521C>G c.3282C>G c.4300C>G (p.Leu1434Val) c.4498C>G (p.Leu1500Val) c.4306C>G (p.Leu1436Val) n.4587C>G n.4581C>G | |
3 | g.142515406G>T | CA354797736 | ATR | c.4492C>A (p.Leu1498Ile) n.4521C>A c.3282C>A c.4300C>A (p.Leu1434Ile) c.4498C>A (p.Leu1500Ile) c.4306C>A (p.Leu1436Ile) n.4587C>A n.4581C>A | |
3 | g.142515407A>C | CA354797740 | ATR | c.4491T>G (p.Tyr1497Ter) n.4520T>G c.3281T>G c.4299T>G (p.Tyr1433Ter) c.4497T>G (p.Tyr1499Ter) c.4305T>G (p.Tyr1435Ter) n.4586T>G n.4580T>G | |
3 | g.142515407A>G | CA436107736 | ATR | c.4491T>C (p.Tyr1497=) n.4520T>C c.3281T>C c.4299T>C (p.Tyr1433=) c.4497T>C (p.Tyr1499=) c.4305T>C (p.Tyr1435=) n.4586T>C n.4580T>C | |
3 | g.142515407A>T | CA354797741 | ATR | c.4491T>A (p.Tyr1497Ter) n.4520T>A c.3281T>A c.4299T>A (p.Tyr1433Ter) c.4497T>A (p.Tyr1499Ter) c.4305T>A (p.Tyr1435Ter) n.4586T>A n.4580T>A | |
3 | g.142515408T>A | CA354797742 | ATR | c.4490A>T (p.Tyr1497Phe) n.4519A>T c.3280A>T c.4298A>T (p.Tyr1433Phe) c.4496A>T (p.Tyr1499Phe) c.4304A>T (p.Tyr1435Phe) n.4585A>T n.4579A>T | |
3 | g.142515408T>C | CA2649840 | ATR | c.4490A>G (p.Tyr1497Cys) n.4519A>G c.3280A>G c.4298A>G (p.Tyr1433Cys) c.4496A>G (p.Tyr1499Cys) c.4304A>G (p.Tyr1435Cys) n.4585A>G n.4579A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142515408T>G | CA354797743 | ATR | c.4490A>C (p.Tyr1497Ser) n.4519A>C c.3280A>C c.4298A>C (p.Tyr1433Ser) c.4496A>C (p.Tyr1499Ser) c.4304A>C (p.Tyr1435Ser) n.4585A>C n.4579A>C | |
3 | g.142515408T= | CA1407011966 | ATR | c.4490A= (p.Tyr1497=) n.4519A= c.3280A= c.4298A= (p.Tyr1433=) c.4496A= (p.Tyr1499=) c.4304A= (p.Tyr1435=) n.4585A= n.4579A= | |
3 | g.142515409A>C | CA354797762 | ATR | c.4489T>G (p.Tyr1497Asp) n.4518T>G c.3279T>G c.4297T>G (p.Tyr1433Asp) c.4495T>G (p.Tyr1499Asp) c.4303T>G (p.Tyr1435Asp) n.4584T>G n.4578T>G | |
3 | g.142515409A>G | CA354797769 | ATR | c.4489T>C (p.Tyr1497His) n.4518T>C c.3279T>C c.4297T>C (p.Tyr1433His) c.4495T>C (p.Tyr1499His) c.4303T>C (p.Tyr1435His) n.4584T>C n.4578T>C | |
3 | g.142515409A>T | CA354797771 | ATR | c.4489T>A (p.Tyr1497Asn) n.4518T>A c.3279T>A c.4297T>A (p.Tyr1433Asn) c.4495T>A (p.Tyr1499Asn) c.4303T>A (p.Tyr1435Asn) n.4584T>A n.4578T>A | |
3 | g.142515410A>C | CA436107771 | ATR | c.4488T>G (p.Gly1496=) n.4517T>G c.3278T>G c.4296T>G (p.Gly1432=) c.4494T>G (p.Gly1498=) c.4302T>G (p.Gly1434=) n.4583T>G n.4577T>G | |
3 | g.142515410A>G | CA436107774 | ATR | c.4488T>C (p.Gly1496=) n.4517T>C c.3278T>C c.4296T>C (p.Gly1432=) c.4494T>C (p.Gly1498=) c.4302T>C (p.Gly1434=) n.4583T>C n.4577T>C | |
3 | g.142515410A>T | CA436107776 | ATR | c.4488T>A (p.Gly1496=) n.4517T>A c.3278T>A c.4296T>A (p.Gly1432=) c.4494T>A (p.Gly1498=) c.4302T>A (p.Gly1434=) n.4583T>A n.4577T>A | |
3 | g.142515411C>A | CA2649841 | ATR | c.4487G>T (p.Gly1496Val) n.4516G>T c.3277G>T c.4295G>T (p.Gly1432Val) c.4493G>T (p.Gly1498Val) c.4301G>T (p.Gly1434Val) n.4582G>T n.4576G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.142515411C= | CA1407011967 | ATR | c.4487G= (p.Gly1496=) n.4516G= c.3277G= c.4295G= (p.Gly1432=) c.4493G= (p.Gly1498=) c.4301G= (p.Gly1434=) n.4582G= n.4576G= | |
3 | g.142515411C>G | CA354797778 | ATR | c.4487G>C (p.Gly1496Ala) n.4516G>C c.3277G>C c.4295G>C (p.Gly1432Ala) c.4493G>C (p.Gly1498Ala) c.4301G>C (p.Gly1434Ala) n.4582G>C n.4576G>C | gnomAD v4 |
3 | g.142515411C>T | CA354797779 | ATR | c.4487G>A (p.Gly1496Asp) n.4516G>A c.3277G>A c.4295G>A (p.Gly1432Asp) c.4493G>A (p.Gly1498Asp) c.4301G>A (p.Gly1434Asp) n.4582G>A n.4576G>A | dbSNP |
3 | g.142515412C>A | CA354797785 | ATR | c.4486G>T (p.Gly1496Cys) n.4515G>T c.3276G>T c.4294G>T (p.Gly1432Cys) c.4492G>T (p.Gly1498Cys) c.4300G>T (p.Gly1434Cys) n.4581G>T n.4575G>T | |
3 | g.142515412C>G | CA354797787 | ATR | c.4486G>C (p.Gly1496Arg) n.4515G>C c.3276G>C c.4294G>C (p.Gly1432Arg) c.4492G>C (p.Gly1498Arg) c.4300G>C (p.Gly1434Arg) n.4581G>C n.4575G>C | |
3 | g.142515412C>T | CA354797791 | ATR | c.4486G>A (p.Gly1496Ser) n.4515G>A c.3276G>A c.4294G>A (p.Gly1432Ser) c.4492G>A (p.Gly1498Ser) c.4300G>A (p.Gly1434Ser) n.4581G>A n.4575G>A | |
3 | g.142515413T>A | CA436107807 | ATR | c.4485A>T (p.Ala1495=) n.4514A>T c.3275A>T c.4293A>T (p.Ala1431=) c.4491A>T (p.Ala1497=) c.4299A>T (p.Ala1433=) n.4580A>T n.4574A>T | |
3 | g.142515413T>C | CA436107802 | ATR | c.4485A>G (p.Ala1495=) n.4514A>G c.3275A>G c.4293A>G (p.Ala1431=) c.4491A>G (p.Ala1497=) c.4299A>G (p.Ala1433=) n.4580A>G n.4574A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.142515413T>G | CA436107798 | ATR | c.4485A>C (p.Ala1495=) n.4514A>C c.3275A>C c.4293A>C (p.Ala1431=) c.4491A>C (p.Ala1497=) c.4299A>C (p.Ala1433=) n.4580A>C n.4574A>C | |
3 | g.142515413T= | CA1407011968 | ATR | c.4485A= (p.Ala1495=) n.4514A= c.3275A= c.4293A= (p.Ala1431=) c.4491A= (p.Ala1497=) c.4299A= (p.Ala1433=) n.4580A= n.4574A= | |
3 | g.142515414G>A | CA354797802 | ATR | c.4484C>T (p.Ala1495Val) n.4513C>T c.3274C>T c.4292C>T (p.Ala1431Val) c.4490C>T (p.Ala1497Val) c.4298C>T (p.Ala1433Val) n.4579C>T n.4573C>T | dbSNP |
3 | g.142515414G>C | CA354797803 | ATR | c.4484C>G (p.Ala1495Gly) n.4513C>G c.3274C>G c.4292C>G (p.Ala1431Gly) c.4490C>G (p.Ala1497Gly) c.4298C>G (p.Ala1433Gly) n.4579C>G n.4573C>G | |
3 | g.142515414G= | CA1407011969 | ATR | c.4484C= (p.Ala1495=) n.4513C= c.3274C= c.4292C= (p.Ala1431=) c.4490C= (p.Ala1497=) c.4298C= (p.Ala1433=) n.4579C= n.4573C= | |
3 | g.142515414G>T | CA354797805 | ATR | c.4484C>A (p.Ala1495Glu) n.4513C>A c.3274C>A c.4292C>A (p.Ala1431Glu) c.4490C>A (p.Ala1497Glu) c.4298C>A (p.Ala1433Glu) n.4579C>A n.4573C>A | gnomAD v4 |
3 | g.142515415C>A | CA354797806 | ATR | c.4483G>T (p.Ala1495Ser) n.4512G>T c.3273G>T c.4291G>T (p.Ala1431Ser) c.4489G>T (p.Ala1497Ser) c.4297G>T (p.Ala1433Ser) n.4578G>T n.4572G>T | dbSNP gnomAD v4 |
3 | g.142515415C= | CA1407011970 | ATR | c.4483G= (p.Ala1495=) n.4512G= c.3273G= c.4291G= (p.Ala1431=) c.4489G= (p.Ala1497=) c.4297G= (p.Ala1433=) n.4578G= n.4572G= | |
3 | g.142515415C>G | CA354797808 | ATR | c.4483G>C (p.Ala1495Pro) n.4512G>C c.3273G>C c.4291G>C (p.Ala1431Pro) c.4489G>C (p.Ala1497Pro) c.4297G>C (p.Ala1433Pro) n.4578G>C n.4572G>C | dbSNP |
3 | g.142515415C>T | CA354797807 | ATR | c.4483G>A (p.Ala1495Thr) n.4512G>A c.3273G>A c.4291G>A (p.Ala1431Thr) c.4489G>A (p.Ala1497Thr) c.4297G>A (p.Ala1433Thr) n.4578G>A n.4572G>A | dbSNP gnomAD v4 |
3 | g.142515416C>A | CA354797813 | ATR | c.4482G>T (p.Trp1494Cys) n.4511G>T c.3272G>T c.4290G>T (p.Trp1430Cys) c.4488G>T (p.Trp1496Cys) c.4296G>T (p.Trp1432Cys) n.4577G>T n.4571G>T | |
3 | g.142515416C>G | CA354797814 | ATR | c.4482G>C (p.Trp1494Cys) n.4511G>C c.3272G>C c.4290G>C (p.Trp1430Cys) c.4488G>C (p.Trp1496Cys) c.4296G>C (p.Trp1432Cys) n.4577G>C n.4571G>C | |
3 | g.142515416C>T | CA354797815 | ATR | c.4482G>A (p.Trp1494Ter) n.4511G>A c.3272G>A c.4290G>A (p.Trp1430Ter) c.4488G>A (p.Trp1496Ter) c.4296G>A (p.Trp1432Ter) n.4577G>A n.4571G>A | |
3 | g.142515417C>A | CA2649842 | ATR | c.4481G>T (p.Trp1494Leu) n.4510G>T c.3271G>T c.4289G>T (p.Trp1430Leu) c.4487G>T (p.Trp1496Leu) c.4295G>T (p.Trp1432Leu) n.4576G>T n.4570G>T | dbSNP ExAC |
3 | g.142515417C= | CA1407011971 | ATR | c.4481G= (p.Trp1494=) n.4510G= c.3271G= c.4289G= (p.Trp1430=) c.4487G= (p.Trp1496=) c.4295G= (p.Trp1432=) n.4576G= n.4570G= | |
3 | g.142515417C>G | CA354797816 | ATR | c.4481G>C (p.Trp1494Ser) n.4510G>C c.3271G>C c.4289G>C (p.Trp1430Ser) c.4487G>C (p.Trp1496Ser) c.4295G>C (p.Trp1432Ser) n.4576G>C n.4570G>C | |
3 | g.142515417C>T | CA354797820 | ATR | c.4481G>A (p.Trp1494Ter) n.4510G>A c.3271G>A c.4289G>A (p.Trp1430Ter) c.4487G>A (p.Trp1496Ter) c.4295G>A (p.Trp1432Ter) n.4576G>A n.4570G>A | gnomAD v4 |
3 | g.142515418A>C | CA354797827 | ATR | c.4480T>G (p.Trp1494Gly) n.4509T>G c.3270T>G c.4288T>G (p.Trp1430Gly) c.4486T>G (p.Trp1496Gly) c.4294T>G (p.Trp1432Gly) n.4575T>G n.4569T>G | |
3 | g.142515418A>G | CA354797830 | ATR | c.4480T>C (p.Trp1494Arg) n.4509T>C c.3270T>C c.4288T>C (p.Trp1430Arg) c.4486T>C (p.Trp1496Arg) c.4294T>C (p.Trp1432Arg) n.4575T>C n.4569T>C | |
3 | g.142515418A>T | CA354797833 | ATR | c.4480T>A (p.Trp1494Arg) n.4509T>A c.3270T>A c.4288T>A (p.Trp1430Arg) c.4486T>A (p.Trp1496Arg) c.4294T>A (p.Trp1432Arg) n.4575T>A n.4569T>A | |
3 | g.142515419A>C | CA436107856 | ATR | c.4479T>G (p.Ser1493=) n.4508T>G c.3269T>G c.4287T>G (p.Ser1429=) c.4485T>G (p.Ser1495=) c.4293T>G (p.Ser1431=) n.4574T>G n.4568T>G | |
3 | g.142515419A>G | CA436107864 | ATR | c.4479T>C (p.Ser1493=) n.4508T>C c.3269T>C c.4287T>C (p.Ser1429=) c.4485T>C (p.Ser1495=) c.4293T>C (p.Ser1431=) n.4574T>C n.4568T>C | |
3 | g.142515419A>T | CA436107868 | ATR | c.4479T>A (p.Ser1493=) n.4508T>A c.3269T>A c.4287T>A (p.Ser1429=) c.4485T>A (p.Ser1495=) c.4293T>A (p.Ser1431=) n.4574T>A n.4568T>A | |
3 | g.142515420G>A | CA354797836 | ATR | c.4478C>T (p.Ser1493Phe) n.4507C>T c.3268C>T c.4286C>T (p.Ser1429Phe) c.4484C>T (p.Ser1495Phe) c.4292C>T (p.Ser1431Phe) n.4573C>T n.4567C>T | ClinVar |
3 | g.142515420G>C | CA354797835 | ATR | c.4478C>G (p.Ser1493Cys) n.4507C>G c.3268C>G c.4286C>G (p.Ser1429Cys) c.4484C>G (p.Ser1495Cys) c.4292C>G (p.Ser1431Cys) n.4573C>G n.4567C>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.142515420G= | CA1407011972 | ATR | c.4478C= (p.Ser1493=) n.4507C= c.3268C= c.4286C= (p.Ser1429=) c.4484C= (p.Ser1495=) c.4292C= (p.Ser1431=) n.4573C= n.4567C= | |
3 | g.142515420G>T | CA354797834 | ATR | c.4478C>A (p.Ser1493Tyr) n.4507C>A c.3268C>A c.4286C>A (p.Ser1429Tyr) c.4484C>A (p.Ser1495Tyr) c.4292C>A (p.Ser1431Tyr) n.4573C>A n.4567C>A | |
3 | g.142515421A>C | CA354797838 | ATR | c.4477T>G (p.Ser1493Ala) n.4506T>G c.3267T>G c.4285T>G (p.Ser1429Ala) c.4483T>G (p.Ser1495Ala) c.4291T>G (p.Ser1431Ala) n.4572T>G n.4566T>G | |
3 | g.142515421A>G | CA354797842 | ATR | c.4477T>C (p.Ser1493Pro) n.4506T>C c.3267T>C c.4285T>C (p.Ser1429Pro) c.4483T>C (p.Ser1495Pro) c.4291T>C (p.Ser1431Pro) n.4572T>C n.4566T>C | |
3 | g.142515421A>T | CA354797847 | ATR | c.4477T>A (p.Ser1493Thr) n.4506T>A c.3267T>A c.4285T>A (p.Ser1429Thr) c.4483T>A (p.Ser1495Thr) c.4291T>A (p.Ser1431Thr) n.4572T>A n.4566T>A | |
3 | g.142515422T>A | CA436107887 | ATR | c.4476A>T (p.Ala1492=) n.4505A>T c.3266A>T c.4284A>T (p.Ala1428=) c.4482A>T (p.Ala1494=) c.4290A>T (p.Ala1430=) n.4571A>T n.4565A>T | ClinVar |
3 | g.142515422T>C | CA436107896 | ATR | c.4476A>G (p.Ala1492=) n.4505A>G c.3266A>G c.4284A>G (p.Ala1428=) c.4482A>G (p.Ala1494=) c.4290A>G (p.Ala1430=) n.4571A>G n.4565A>G | ClinVar dbSNP gnomAD v4 |
3 | g.142515422T>G | CA436107900 | ATR | c.4476A>C (p.Ala1492=) n.4505A>C c.3266A>C c.4284A>C (p.Ala1428=) c.4482A>C (p.Ala1494=) c.4290A>C (p.Ala1430=) n.4571A>C n.4565A>C | |
3 | g.142515423G>A | CA354797852 | ATR | c.4475C>T (p.Ala1492Val) n.4504C>T c.3265C>T c.4283C>T (p.Ala1428Val) c.4481C>T (p.Ala1494Val) c.4289C>T (p.Ala1430Val) n.4570C>T n.4564C>T | |
3 | g.142515423G>C | CA354797856 | ATR | c.4475C>G (p.Ala1492Gly) n.4504C>G c.3265C>G c.4283C>G (p.Ala1428Gly) c.4481C>G (p.Ala1494Gly) c.4289C>G (p.Ala1430Gly) n.4570C>G n.4564C>G | dbSNP |
3 | g.142515423G>T | CA354797858 | ATR | c.4475C>A (p.Ala1492Glu) n.4504C>A c.3265C>A c.4283C>A (p.Ala1428Glu) c.4481C>A (p.Ala1494Glu) c.4289C>A (p.Ala1430Glu) n.4570C>A n.4564C>A | |
3 | g.142515424C>A | CA354797860 | ATR | c.4474G>T (p.Ala1492Ser) n.4503G>T c.3264G>T c.4282G>T (p.Ala1428Ser) c.4480G>T (p.Ala1494Ser) c.4288G>T (p.Ala1430Ser) n.4569G>T n.4563G>T | ClinVar |
3 | g.142515424C>G | CA354797861 | ATR | c.4474G>C (p.Ala1492Pro) n.4503G>C c.3264G>C c.4282G>C (p.Ala1428Pro) c.4480G>C (p.Ala1494Pro) c.4288G>C (p.Ala1430Pro) n.4569G>C n.4563G>C | |
3 | g.142515424C>T | CA354797862 | ATR | c.4474G>A (p.Ala1492Thr) n.4503G>A c.3264G>A c.4282G>A (p.Ala1428Thr) c.4480G>A (p.Ala1494Thr) c.4288G>A (p.Ala1430Thr) n.4569G>A n.4563G>A | dbSNP |
3 | g.142515425T>A | CA436107939 | ATR | c.4473A>T (p.Ser1491=) n.4502A>T c.3263A>T c.4281A>T (p.Ser1427=) c.4479A>T (p.Ser1493=) c.4287A>T (p.Ser1429=) n.4568A>T n.4562A>T | |
3 | g.142515425T>C | CA436107951 | ATR | c.4473A>G (p.Ser1491=) n.4502A>G c.3263A>G c.4281A>G (p.Ser1427=) c.4479A>G (p.Ser1493=) c.4287A>G (p.Ser1429=) n.4568A>G n.4562A>G | |
3 | g.142515425T>G | CA436107952 | ATR | c.4473A>C (p.Ser1491=) n.4502A>C c.3263A>C c.4281A>C (p.Ser1427=) c.4479A>C (p.Ser1493=) c.4287A>C (p.Ser1429=) n.4568A>C n.4562A>C | |
3 | g.142515426G>A | CA354797867 | ATR | c.4472C>T (p.Ser1491Leu) n.4501C>T c.3262C>T c.4280C>T (p.Ser1427Leu) c.4478C>T (p.Ser1493Leu) c.4286C>T (p.Ser1429Leu) n.4567C>T n.4561C>T | |
3 | g.142515426G>C | CA354797870 | ATR | c.4472C>G (p.Ser1491Ter) n.4501C>G c.3262C>G c.4280C>G (p.Ser1427Ter) c.4478C>G (p.Ser1493Ter) c.4286C>G (p.Ser1429Ter) n.4567C>G n.4561C>G | |
3 | g.142515426G>T | CA354797872 | ATR | c.4472C>A (p.Ser1491Ter) n.4501C>A c.3262C>A c.4280C>A (p.Ser1427Ter) c.4478C>A (p.Ser1493Ter) c.4286C>A (p.Ser1429Ter) n.4567C>A n.4561C>A | |
3 | g.142515427A>C | CA354797890 | ATR | c.4471T>G (p.Ser1491Ala) n.4500T>G c.3261T>G c.4279T>G (p.Ser1427Ala) c.4477T>G (p.Ser1493Ala) c.4285T>G (p.Ser1429Ala) n.4566T>G n.4560T>G | |
3 | g.142515427A>G | CA354797879 | ATR | c.4471T>C (p.Ser1491Pro) n.4500T>C c.3261T>C c.4279T>C (p.Ser1427Pro) c.4477T>C (p.Ser1493Pro) c.4285T>C (p.Ser1429Pro) n.4566T>C n.4560T>C | |
3 | g.142515427A>T | CA354797885 | ATR | c.4471T>A (p.Ser1491Thr) n.4500T>A c.3261T>A c.4279T>A (p.Ser1427Thr) c.4477T>A (p.Ser1493Thr) c.4285T>A (p.Ser1429Thr) n.4566T>A n.4560T>A | dbSNP |
3 | g.142515428C>A | CA354797896 | ATR | c.4470G>T (p.Trp1490Cys) n.4499G>T c.3260G>T c.4278G>T (p.Trp1426Cys) c.4476G>T (p.Trp1492Cys) c.4284G>T (p.Trp1428Cys) n.4565G>T n.4559G>T | COSMIC |
3 | g.142515428C>G | CA354797898 | ATR | c.4470G>C (p.Trp1490Cys) n.4499G>C c.3260G>C c.4278G>C (p.Trp1426Cys) c.4476G>C (p.Trp1492Cys) c.4284G>C (p.Trp1428Cys) n.4565G>C n.4559G>C | |
3 | g.142515428C>T | CA354797900 | ATR | c.4470G>A (p.Trp1490Ter) n.4499G>A c.3260G>A c.4278G>A (p.Trp1426Ter) c.4476G>A (p.Trp1492Ter) c.4284G>A (p.Trp1428Ter) n.4565G>A n.4559G>A | |
3 | g.142515429C>A | CA354797904 | ATR | c.4469G>T (p.Trp1490Leu) n.4498G>T c.3259G>T c.4277G>T (p.Trp1426Leu) c.4475G>T (p.Trp1492Leu) c.4283G>T (p.Trp1428Leu) n.4564G>T n.4558G>T | gnomAD v4 |
3 | g.142515429C>G | CA354797908 | ATR | c.4469G>C (p.Trp1490Ser) n.4498G>C c.3259G>C c.4277G>C (p.Trp1426Ser) c.4475G>C (p.Trp1492Ser) c.4283G>C (p.Trp1428Ser) n.4564G>C n.4558G>C | |
3 | g.142515429C>T | CA354797911 | ATR | c.4469G>A (p.Trp1490Ter) n.4498G>A c.3259G>A c.4277G>A (p.Trp1426Ter) c.4475G>A (p.Trp1492Ter) c.4283G>A (p.Trp1428Ter) n.4564G>A n.4558G>A | |
3 | g.142515430A>C | CA354797926 | ATR | c.4468T>G (p.Trp1490Gly) n.4497T>G c.3258T>G c.4276T>G (p.Trp1426Gly) c.4474T>G (p.Trp1492Gly) c.4282T>G (p.Trp1428Gly) n.4563T>G n.4557T>G | |
3 | g.142515430A>G | CA354797929 | ATR | c.4468T>C (p.Trp1490Arg) n.4497T>C c.3258T>C c.4276T>C (p.Trp1426Arg) c.4474T>C (p.Trp1492Arg) c.4282T>C (p.Trp1428Arg) n.4563T>C n.4557T>C | |
3 | g.142515430A>T | CA354797931 | ATR | c.4468T>A (p.Trp1490Arg) n.4497T>A c.3258T>A c.4276T>A (p.Trp1426Arg) c.4474T>A (p.Trp1492Arg) c.4282T>A (p.Trp1428Arg) n.4563T>A n.4557T>A | |
3 | g.142515431T>A | CA354797933 | ATR | c.4467A>T (p.Glu1489Asp) n.4496A>T c.3257A>T c.4275A>T (p.Glu1425Asp) c.4473A>T (p.Glu1491Asp) c.4281A>T (p.Glu1427Asp) n.4562A>T n.4556A>T | |
3 | g.142515431T>C | CA2649843 | ATR | c.4467A>G (p.Glu1489=) n.4496A>G c.3257A>G c.4275A>G (p.Glu1425=) c.4473A>G (p.Glu1491=) c.4281A>G (p.Glu1427=) n.4562A>G n.4556A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142515431T>G | CA354797935 | ATR | c.4467A>C (p.Glu1489Asp) n.4496A>C c.3257A>C c.4275A>C (p.Glu1425Asp) c.4473A>C (p.Glu1491Asp) c.4281A>C (p.Glu1427Asp) n.4562A>C n.4556A>C | |
3 | g.142515431T= | CA1407011973 | ATR | c.4467A= (p.Glu1489=) n.4496A= c.3257A= c.4275A= (p.Glu1425=) c.4473A= (p.Glu1491=) c.4281A= (p.Glu1427=) n.4562A= n.4556A= | |
3 | g.142515432T>A | CA354797951 | ATR | c.4466A>T (p.Glu1489Val) n.4495A>T c.3256A>T c.4274A>T (p.Glu1425Val) c.4472A>T (p.Glu1491Val) c.4280A>T (p.Glu1427Val) n.4561A>T n.4555A>T | |
3 | g.142515432T>C | CA354797955 | ATR | c.4466A>G (p.Glu1489Gly) n.4495A>G c.3256A>G c.4274A>G (p.Glu1425Gly) c.4472A>G (p.Glu1491Gly) c.4280A>G (p.Glu1427Gly) n.4561A>G n.4555A>G | |
3 | g.142515432T>G | CA354797943 | ATR | c.4466A>C (p.Glu1489Ala) n.4495A>C c.3256A>C c.4274A>C (p.Glu1425Ala) c.4472A>C (p.Glu1491Ala) c.4280A>C (p.Glu1427Ala) n.4561A>C n.4555A>C | |
3 | g.142515433C>A | CA354797961 | ATR | c.4465G>T (p.Glu1489Ter) n.4494G>T c.3255G>T c.4273G>T (p.Glu1425Ter) c.4471G>T (p.Glu1491Ter) c.4279G>T (p.Glu1427Ter) n.4560G>T n.4554G>T | |
3 | g.142515433C>G | CA354797965 | ATR | c.4465G>C (p.Glu1489Gln) n.4494G>C c.3255G>C c.4273G>C (p.Glu1425Gln) c.4471G>C (p.Glu1491Gln) c.4279G>C (p.Glu1427Gln) n.4560G>C n.4554G>C | |
3 | g.142515433C>T | CA354797971 | ATR | c.4465G>A (p.Glu1489Lys) n.4494G>A c.3255G>A c.4273G>A (p.Glu1425Lys) c.4471G>A (p.Glu1491Lys) c.4279G>A (p.Glu1427Lys) n.4560G>A n.4554G>A | |
3 | g.142515434T>A | CA436108030 | ATR | c.4464A>T (p.Ala1488=) n.4493A>T c.3254A>T c.4272A>T (p.Ala1424=) c.4470A>T (p.Ala1490=) c.4278A>T (p.Ala1426=) n.4559A>T n.4553A>T | |
3 | g.142515434T>C | CA436108026 | ATR | c.4464A>G (p.Ala1488=) n.4493A>G c.3254A>G c.4272A>G (p.Ala1424=) c.4470A>G (p.Ala1490=) c.4278A>G (p.Ala1426=) n.4559A>G n.4553A>G | dbSNP |
3 | g.142515434T>G | CA436108024 | ATR | c.4464A>C (p.Ala1488=) n.4493A>C c.3254A>C c.4272A>C (p.Ala1424=) c.4470A>C (p.Ala1490=) c.4278A>C (p.Ala1426=) n.4559A>C n.4553A>C | |
3 | g.142515434T= | CA1407011974 | ATR | c.4464A= (p.Ala1488=) n.4493A= c.3254A= c.4272A= (p.Ala1424=) c.4470A= (p.Ala1490=) c.4278A= (p.Ala1426=) n.4559A= n.4553A= | |
3 | g.142515435G>A | CA2649844 | ATR | c.4463C>T (p.Ala1488Val) n.4492C>T c.3253C>T c.4271C>T (p.Ala1424Val) c.4469C>T (p.Ala1490Val) c.4277C>T (p.Ala1426Val) n.4558C>T n.4552C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142515435G>C | CA354797994 | ATR | c.4463C>G (p.Ala1488Gly) n.4492C>G c.3253C>G c.4271C>G (p.Ala1424Gly) c.4469C>G (p.Ala1490Gly) c.4277C>G (p.Ala1426Gly) n.4558C>G n.4552C>G | |
3 | g.142515435G= | CA1407011975 | ATR | c.4463C= (p.Ala1488=) n.4492C= c.3253C= c.4271C= (p.Ala1424=) c.4469C= (p.Ala1490=) c.4277C= (p.Ala1426=) n.4558C= n.4552C= | |
3 | g.142515435G>T | CA354798000 | ATR | c.4463C>A (p.Ala1488Glu) n.4492C>A c.3253C>A c.4271C>A (p.Ala1424Glu) c.4469C>A (p.Ala1490Glu) c.4277C>A (p.Ala1426Glu) n.4558C>A n.4552C>A | gnomAD v4 |
3 | g.142515436C>A | CA354798003 | ATR | c.4462G>T (p.Ala1488Ser) n.4491G>T c.3252G>T c.4270G>T (p.Ala1424Ser) c.4468G>T (p.Ala1490Ser) c.4276G>T (p.Ala1426Ser) n.4557G>T n.4551G>T | |
3 | g.142515436C>G | CA354798012 | ATR | c.4462G>C (p.Ala1488Pro) n.4491G>C c.3252G>C c.4270G>C (p.Ala1424Pro) c.4468G>C (p.Ala1490Pro) c.4276G>C (p.Ala1426Pro) n.4557G>C n.4551G>C | COSMIC |
3 | g.142515436C>T | CA354798009 | ATR | c.4462G>A (p.Ala1488Thr) n.4491G>A c.3252G>A c.4270G>A (p.Ala1424Thr) c.4468G>A (p.Ala1490Thr) c.4276G>A (p.Ala1426Thr) n.4557G>A n.4551G>A | ClinVar |
3 | g.142515436_142515438delinsCAA | CA1407011976 | ATR | c.4460_4462delinsTTG (p.Phe1487=) n.4489_4491delinsTTG c.3250_3252delinsTTG c.4268_4270delinsTTG (p.Phe1423=) c.4466_4468delinsTTG (p.Phe1489=) c.4274_4276delinsTTG (p.Phe1425=) n.4555_4557delinsTTG n.4549_4551delinsTTG | |
3 | g.142515437A= | CA1407011977 | ATR | c.4461T= (p.Phe1487=) n.4490T= c.3251T= c.4269T= (p.Phe1423=) c.4467T= (p.Phe1489=) c.4275T= (p.Phe1425=) n.4556T= n.4550T= | |
3 | g.142515437A>C | CA354798031 | ATR | c.4461T>G (p.Phe1487Leu) n.4490T>G c.3251T>G c.4269T>G (p.Phe1423Leu) c.4467T>G (p.Phe1489Leu) c.4275T>G (p.Phe1425Leu) n.4556T>G n.4550T>G | gnomAD v4 |
3 | g.142515437A>G | CA84720639 | ATR | c.4461T>C (p.Phe1487=) n.4490T>C c.3251T>C c.4269T>C (p.Phe1423=) c.4467T>C (p.Phe1489=) c.4275T>C (p.Phe1425=) n.4556T>C n.4550T>C | ClinVar dbSNP |
3 | g.142515437A>T | CA354798044 | ATR | c.4461T>A (p.Phe1487Leu) n.4490T>A c.3251T>A c.4269T>A (p.Phe1423Leu) c.4467T>A (p.Phe1489Leu) c.4275T>A (p.Phe1425Leu) n.4556T>A n.4550T>A | |
3 | g.142515438_142515439del | CA2649845 | ATR | c.4460_4461del (p.Phe1487CysfsTer18) n.4489_4490del c.3250_3251del c.4268_4269del (p.Phe1423CysfsTer18) c.4466_4467del (p.Phe1489CysfsTer18) c.4274_4275del (p.Phe1425CysfsTer18) n.4555_4556del n.4549_4550del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142515438A>C | CA354798075 | ATR | c.4460T>G (p.Phe1487Cys) n.4489T>G c.3250T>G c.4268T>G (p.Phe1423Cys) c.4466T>G (p.Phe1489Cys) c.4274T>G (p.Phe1425Cys) n.4555T>G n.4549T>G | |
3 | g.142515438A>G | CA354798064 | ATR | c.4460T>C (p.Phe1487Ser) n.4489T>C c.3250T>C c.4268T>C (p.Phe1423Ser) c.4466T>C (p.Phe1489Ser) c.4274T>C (p.Phe1425Ser) n.4555T>C n.4549T>C | |
3 | g.142515438A>T | CA354798066 | ATR | c.4460T>A (p.Phe1487Tyr) n.4489T>A c.3250T>A c.4268T>A (p.Phe1423Tyr) c.4466T>A (p.Phe1489Tyr) c.4274T>A (p.Phe1425Tyr) n.4555T>A n.4549T>A | |
3 | g.142515439A>C | CA354798076 | ATR | c.4459T>G (p.Phe1487Val) n.4488T>G c.3249T>G c.4267T>G (p.Phe1423Val) c.4465T>G (p.Phe1489Val) c.4273T>G (p.Phe1425Val) n.4554T>G n.4548T>G | |
3 | g.142515439A>G | CA354798077 | ATR | c.4459T>C (p.Phe1487Leu) n.4488T>C c.3249T>C c.4267T>C (p.Phe1423Leu) c.4465T>C (p.Phe1489Leu) c.4273T>C (p.Phe1425Leu) n.4554T>C n.4548T>C | |
3 | g.142515439A>T | CA354798078 | ATR | c.4459T>A (p.Phe1487Ile) n.4488T>A c.3249T>A c.4267T>A (p.Phe1423Ile) c.4465T>A (p.Phe1489Ile) c.4273T>A (p.Phe1425Ile) n.4554T>A n.4548T>A | |
3 | g.142515440G>A | CA436108055 | ATR | c.4458C>T (p.Asn1486=) n.4487C>T c.3248C>T c.4266C>T (p.Asn1422=) c.4464C>T (p.Asn1488=) c.4272C>T (p.Asn1424=) n.4553C>T n.4547C>T | |
3 | g.142515440G>C | CA354798079 | ATR | c.4458C>G (p.Asn1486Lys) n.4487C>G c.3248C>G c.4266C>G (p.Asn1422Lys) c.4464C>G (p.Asn1488Lys) c.4272C>G (p.Asn1424Lys) n.4553C>G n.4547C>G | |
3 | g.142515440G>T | CA354798081 | ATR | c.4458C>A (p.Asn1486Lys) n.4487C>A c.3248C>A c.4266C>A (p.Asn1422Lys) c.4464C>A (p.Asn1488Lys) c.4272C>A (p.Asn1424Lys) n.4553C>A n.4547C>A | |
3 | g.142515441T>A | CA354798087 | ATR | c.4457A>T (p.Asn1486Ile) n.4486A>T c.3247A>T c.4265A>T (p.Asn1422Ile) c.4463A>T (p.Asn1488Ile) c.4271A>T (p.Asn1424Ile) n.4552A>T n.4546A>T | |
3 | g.142515441T>C | CA354798093 | ATR | c.4457A>G (p.Asn1486Ser) n.4486A>G c.3247A>G c.4265A>G (p.Asn1422Ser) c.4463A>G (p.Asn1488Ser) c.4271A>G (p.Asn1424Ser) n.4552A>G n.4546A>G | |
3 | g.142515441T>G | CA354798096 | ATR | c.4457A>C (p.Asn1486Thr) n.4486A>C c.3247A>C c.4265A>C (p.Asn1422Thr) c.4463A>C (p.Asn1488Thr) c.4271A>C (p.Asn1424Thr) n.4552A>C n.4546A>C | |
3 | g.142515442T>A | CA354798099 | ATR | c.4456A>T (p.Asn1486Tyr) n.4485A>T c.3246A>T c.4264A>T (p.Asn1422Tyr) c.4462A>T (p.Asn1488Tyr) c.4270A>T (p.Asn1424Tyr) n.4551A>T n.4545A>T | |
3 | g.142515442T>C | CA354798104 | ATR | c.4456A>G (p.Asn1486Asp) n.4485A>G c.3246A>G c.4264A>G (p.Asn1422Asp) c.4462A>G (p.Asn1488Asp) c.4270A>G (p.Asn1424Asp) n.4551A>G n.4545A>G | |
3 | g.142515442T>G | CA354798109 | ATR | c.4456A>C (p.Asn1486His) n.4485A>C c.3246A>C c.4264A>C (p.Asn1422His) c.4462A>C (p.Asn1488His) c.4270A>C (p.Asn1424His) n.4551A>C n.4545A>C | |
3 | g.142515443A>C | CA354798115 | ATR | c.4455T>G (p.Ser1485Arg) n.4484T>G c.3245T>G c.4263T>G (p.Ser1421Arg) c.4461T>G (p.Ser1487Arg) c.4269T>G (p.Ser1423Arg) n.4550T>G n.4544T>G | |
3 | g.142515443A>G | CA436108065 | ATR | c.4455T>C (p.Ser1485=) n.4484T>C c.3245T>C c.4263T>C (p.Ser1421=) c.4461T>C (p.Ser1487=) c.4269T>C (p.Ser1423=) n.4550T>C n.4544T>C | |
3 | g.142515443A>T | CA354798121 | ATR | c.4455T>A (p.Ser1485Arg) n.4484T>A c.3245T>A c.4263T>A (p.Ser1421Arg) c.4461T>A (p.Ser1487Arg) c.4269T>A (p.Ser1423Arg) n.4550T>A n.4544T>A | |
3 | g.142515444C>A | CA354798124 | ATR | c.4454G>T (p.Ser1485Ile) n.4483G>T c.3244G>T c.4262G>T (p.Ser1421Ile) c.4460G>T (p.Ser1487Ile) c.4268G>T (p.Ser1423Ile) n.4549G>T n.4543G>T | |
3 | g.142515444C>G | CA354798145 | ATR | c.4454G>C (p.Ser1485Thr) n.4483G>C c.3244G>C c.4262G>C (p.Ser1421Thr) c.4460G>C (p.Ser1487Thr) c.4268G>C (p.Ser1423Thr) n.4549G>C n.4543G>C | |
3 | g.142515444C>T | CA354798134 | ATR | c.4454G>A (p.Ser1485Asn) n.4483G>A c.3244G>A c.4262G>A (p.Ser1421Asn) c.4460G>A (p.Ser1487Asn) c.4268G>A (p.Ser1423Asn) n.4549G>A n.4543G>A | gnomAD v4 |
3 | g.142515445T>A | CA354798151 | ATR | c.4453A>T (p.Ser1485Cys) n.4482A>T c.3243A>T c.4261A>T (p.Ser1421Cys) c.4459A>T (p.Ser1487Cys) c.4267A>T (p.Ser1423Cys) n.4548A>T n.4542A>T | |
3 | g.142515445T>C | CA2649846 | ATR | c.4453A>G (p.Ser1485Gly) n.4482A>G c.3243A>G c.4261A>G (p.Ser1421Gly) c.4459A>G (p.Ser1487Gly) c.4267A>G (p.Ser1423Gly) n.4548A>G n.4542A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.142515445T>G | CA354798152 | ATR | c.4453A>C (p.Ser1485Arg) n.4482A>C c.3243A>C c.4261A>C (p.Ser1421Arg) c.4459A>C (p.Ser1487Arg) c.4267A>C (p.Ser1423Arg) n.4548A>C n.4542A>C | |
3 | g.142515445T= | CA1407011978 | ATR | c.4453A= (p.Ser1485=) n.4482A= c.3243A= c.4261A= (p.Ser1421=) c.4459A= (p.Ser1487=) c.4267A= (p.Ser1423=) n.4548A= n.4542A= | |
3 | g.142515446A= | CA1407011979 | ATR | c.4452T= (p.Gly1484=) n.4481T= c.3242T= c.4260T= (p.Gly1420=) c.4458T= (p.Gly1486=) c.4266T= (p.Gly1422=) n.4547T= n.4541T= | |
3 | g.142515446A>C | CA436108086 | ATR | c.4452T>G (p.Gly1484=) n.4481T>G c.3242T>G c.4260T>G (p.Gly1420=) c.4458T>G (p.Gly1486=) c.4266T>G (p.Gly1422=) n.4547T>G n.4541T>G | |
3 | g.142515446A>G | CA436108084 | ATR | c.4452T>C (p.Gly1484=) n.4481T>C c.3242T>C c.4260T>C (p.Gly1420=) c.4458T>C (p.Gly1486=) c.4266T>C (p.Gly1422=) n.4547T>C n.4541T>C | dbSNP |
3 | g.142515446A>T | CA436108085 | ATR | c.4452T>A (p.Gly1484=) n.4481T>A c.3242T>A c.4260T>A (p.Gly1420=) c.4458T>A (p.Gly1486=) c.4266T>A (p.Gly1422=) n.4547T>A n.4541T>A | |
3 | g.142515447C>A | CA354798153 | ATR | c.4451G>T (p.Gly1484Val) n.4480G>T c.3241G>T c.4259G>T (p.Gly1420Val) c.4457G>T (p.Gly1486Val) c.4265G>T (p.Gly1422Val) n.4546G>T n.4540G>T | |
3 | g.142515447C>G | CA354798154 | ATR | c.4451G>C (p.Gly1484Ala) n.4480G>C c.3241G>C c.4259G>C (p.Gly1420Ala) c.4457G>C (p.Gly1486Ala) c.4265G>C (p.Gly1422Ala) n.4546G>C n.4540G>C | |
3 | g.142515447C>T | CA354798158 | ATR | c.4451G>A (p.Gly1484Asp) n.4480G>A c.3241G>A c.4259G>A (p.Gly1420Asp) c.4457G>A (p.Gly1486Asp) c.4265G>A (p.Gly1422Asp) n.4546G>A n.4540G>A | dbSNP gnomAD v4 |
3 | g.142515447_142515450delinsCCCA | CA1407011980 | ATR | c.4448_4451delinsTGGG (p.Leu1483=) n.4477_4480delinsTGGG c.3238_3241delinsTGGG c.4256_4259delinsTGGG (p.Leu1419=) c.4454_4457delinsTGGG (p.Leu1485=) c.4262_4265delinsTGGG (p.Leu1421=) n.4543_4546delinsTGGG n.4537_4540delinsTGGG | |
3 | g.142515448C>A | CA354798163 | ATR | c.4450G>T (p.Gly1484Cys) n.4479G>T c.3240G>T c.4258G>T (p.Gly1420Cys) c.4456G>T (p.Gly1486Cys) c.4264G>T (p.Gly1422Cys) n.4545G>T n.4539G>T | ClinVar |
3 | g.142515448C= | CA1407011981 | ATR | c.4450G= (p.Gly1484=) n.4479G= c.3240G= c.4258G= (p.Gly1420=) c.4456G= (p.Gly1486=) c.4264G= (p.Gly1422=) n.4545G= n.4539G= | |
3 | g.142515448C>G | CA354798165 | ATR | c.4450G>C (p.Gly1484Arg) n.4479G>C c.3240G>C c.4258G>C (p.Gly1420Arg) c.4456G>C (p.Gly1486Arg) c.4264G>C (p.Gly1422Arg) n.4545G>C n.4539G>C | |
3 | g.142515448C>T | CA2649848 | ATR | c.4450G>A (p.Gly1484Ser) n.4479G>A c.3240G>A c.4258G>A (p.Gly1420Ser) c.4456G>A (p.Gly1486Ser) c.4264G>A (p.Gly1422Ser) n.4545G>A n.4539G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.142515448_142515450del | CA2649847 | ATR | c.4448_4450del (p.Leu1483_Gly1484delinsCys) n.4477_4479del c.3238_3240del c.4256_4258del (p.Leu1419_Gly1420delinsCys) c.4454_4456del (p.Leu1485_Gly1486delinsCys) c.4262_4264del (p.Leu1421_Gly1422delinsCys) n.4543_4545del n.4537_4539del | dbSNP ExAC gnomAD v2 gnomAD v4 |