Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.75985890_75985906delCA2683384685PORc.1445-33_1445-17del (n.1445-33_1445-17del)
c.1571-33_1571-17del (n.1571-33_1571-17del)
c.1670-33_1670-17del (n.1670-33_1670-17del)
c.*109-170_*109-154del (n.*109-170_*109-154del)
c.884-33_884-17del (n.884-33_884-17del)
c.1821-33_1821-17del
c.*975-33_*975-17del (n.*975-33_*975-17del)
n.281-33_281-17del
c.1724-33_1724-17del (n.1724-33_1724-17del)
c.1520-33_1520-17del (n.1520-33_1520-17del)
c.1661-33_1661-17del (n.1661-33_1661-17del)
c.1715-33_1715-17del (n.1715-33_1715-17del)
c.1511-33_1511-17del (n.1511-33_1511-17del)
 gnomAD v4
7g.75985897_75985907delinsCGCTCACCCCGCA1718180406PORc.1445-26_1445-16delinsCGCTCACCCCG (n.1445-26_1445-16delinsCGCTCACCCCG)
c.1571-26_1571-16delinsCGCTCACCCCG (n.1571-26_1571-16delinsCGCTCACCCCG)
c.1670-26_1670-16delinsCGCTCACCCCG (n.1670-26_1670-16delinsCGCTCACCCCG)
c.*109-163_*109-153delinsCGCTCACCCCG (n.*109-163_*109-153delinsCGCTCACCCCG)
c.884-26_884-16delinsCGCTCACCCCG (n.884-26_884-16delinsCGCTCACCCCG)
c.1821-26_1821-16delinsCGCTCACCCCG
c.*975-26_*975-16delinsCGCTCACCCCG (n.*975-26_*975-16delinsCGCTCACCCCG)
n.281-26_281-16delinsCGCTCACCCCG
c.1724-26_1724-16delinsCGCTCACCCCG (n.1724-26_1724-16delinsCGCTCACCCCG)
c.1520-26_1520-16delinsCGCTCACCCCG (n.1520-26_1520-16delinsCGCTCACCCCG)
c.1661-26_1661-16delinsCGCTCACCCCG (n.1661-26_1661-16delinsCGCTCACCCCG)
c.1715-26_1715-16delinsCGCTCACCCCG (n.1715-26_1715-16delinsCGCTCACCCCG)
c.1511-26_1511-16delinsCGCTCACCCCG (n.1511-26_1511-16delinsCGCTCACCCCG)
7g.75985900_75985909delCA4304231PORc.1445-23_1445-14del (n.1445-23_1445-14del)
c.1571-23_1571-14del (n.1571-23_1571-14del)
c.1670-23_1670-14del (n.1670-23_1670-14del)
c.*109-160_*109-151del (n.*109-160_*109-151del)
c.884-23_884-14del (n.884-23_884-14del)
c.1821-23_1821-14del
c.*975-23_*975-14del (n.*975-23_*975-14del)
n.281-23_281-14del
c.1724-23_1724-14del (n.1724-23_1724-14del)
c.1520-23_1520-14del (n.1520-23_1520-14del)
c.1661-23_1661-14del (n.1661-23_1661-14del)
c.1715-23_1715-14del (n.1715-23_1715-14del)
c.1511-23_1511-14del (n.1511-23_1511-14del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985901C>ACA2683384700PORc.1445-22C>A (n.1445-22C>A)
c.1571-22C>A (n.1571-22C>A)
c.1670-22C>A (n.1670-22C>A)
c.*109-159C>A (n.*109-159C>A)
c.884-22C>A (n.884-22C>A)
c.1821-22C>A
c.*975-22C>A (n.*975-22C>A)
n.281-22C>A
c.1724-22C>A (n.1724-22C>A)
c.1520-22C>A (n.1520-22C>A)
c.1661-22C>A (n.1661-22C>A)
c.1715-22C>A (n.1715-22C>A)
c.1511-22C>A (n.1511-22C>A)
 gnomAD v4
7g.75985901C>TCA2683384701PORc.1445-22C>T (n.1445-22C>T)
c.1571-22C>T (n.1571-22C>T)
c.1670-22C>T (n.1670-22C>T)
c.*109-159C>T (n.*109-159C>T)
c.884-22C>T (n.884-22C>T)
c.1821-22C>T
c.*975-22C>T (n.*975-22C>T)
n.281-22C>T
c.1724-22C>T (n.1724-22C>T)
c.1520-22C>T (n.1520-22C>T)
c.1661-22C>T (n.1661-22C>T)
c.1715-22C>T (n.1715-22C>T)
c.1511-22C>T (n.1511-22C>T)
 gnomAD v4
7g.75985902A>CCA2683384702PORc.1445-21A>C (n.1445-21A>C)
c.1571-21A>C (n.1571-21A>C)
c.1670-21A>C (n.1670-21A>C)
c.*109-158A>C (n.*109-158A>C)
c.884-21A>C (n.884-21A>C)
c.1821-21A>C
c.*975-21A>C (n.*975-21A>C)
n.281-21A>C
c.1724-21A>C (n.1724-21A>C)
c.1520-21A>C (n.1520-21A>C)
c.1661-21A>C (n.1661-21A>C)
c.1715-21A>C (n.1715-21A>C)
c.1511-21A>C (n.1511-21A>C)
 gnomAD v4
7g.75985903C>ACA575786254PORc.1445-20C>A (n.1445-20C>A)
c.1571-20C>A (n.1571-20C>A)
c.1670-20C>A (n.1670-20C>A)
c.*109-157C>A (n.*109-157C>A)
c.884-20C>A (n.884-20C>A)
c.1821-20C>A
c.*975-20C>A (n.*975-20C>A)
n.281-20C>A
c.1724-20C>A (n.1724-20C>A)
c.1520-20C>A (n.1520-20C>A)
c.1661-20C>A (n.1661-20C>A)
c.1715-20C>A (n.1715-20C>A)
c.1511-20C>A (n.1511-20C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75985903C=CA1718180414PORc.1445-20C= (n.1445-20C=)
c.1571-20C= (n.1571-20C=)
c.1670-20C= (n.1670-20C=)
c.*109-157C= (n.*109-157C=)
c.884-20C= (n.884-20C=)
c.1821-20C=
c.*975-20C= (n.*975-20C=)
n.281-20C=
c.1724-20C= (n.1724-20C=)
c.1520-20C= (n.1520-20C=)
c.1661-20C= (n.1661-20C=)
c.1715-20C= (n.1715-20C=)
c.1511-20C= (n.1511-20C=)
7g.75985903C>TCA842283548PORc.1445-20C>T (n.1445-20C>T)
c.1571-20C>T (n.1571-20C>T)
c.1670-20C>T (n.1670-20C>T)
c.*109-157C>T (n.*109-157C>T)
c.884-20C>T (n.884-20C>T)
c.1821-20C>T
c.*975-20C>T (n.*975-20C>T)
n.281-20C>T
c.1724-20C>T (n.1724-20C>T)
c.1520-20C>T (n.1520-20C>T)
c.1661-20C>T (n.1661-20C>T)
c.1715-20C>T (n.1715-20C>T)
c.1511-20C>T (n.1511-20C>T)
 dbSNP gnomAD v3 gnomAD v4
7g.75985904C>ACA2683384703PORc.1445-19C>A (n.1445-19C>A)
c.1571-19C>A (n.1571-19C>A)
c.1670-19C>A (n.1670-19C>A)
c.*109-156C>A (n.*109-156C>A)
c.884-19C>A (n.884-19C>A)
c.1821-19C>A
c.*975-19C>A (n.*975-19C>A)
n.281-19C>A
c.1724-19C>A (n.1724-19C>A)
c.1520-19C>A (n.1520-19C>A)
c.1661-19C>A (n.1661-19C>A)
c.1715-19C>A (n.1715-19C>A)
c.1511-19C>A (n.1511-19C>A)
 gnomAD v4
7g.75985904C=CA1718180415PORc.1445-19C= (n.1445-19C=)
c.1571-19C= (n.1571-19C=)
c.1670-19C= (n.1670-19C=)
c.*109-156C= (n.*109-156C=)
c.884-19C= (n.884-19C=)
c.1821-19C=
c.*975-19C= (n.*975-19C=)
n.281-19C=
c.1724-19C= (n.1724-19C=)
c.1520-19C= (n.1520-19C=)
c.1661-19C= (n.1661-19C=)
c.1715-19C= (n.1715-19C=)
c.1511-19C= (n.1511-19C=)
7g.75985904C>GCA842283561PORc.1445-19C>G (n.1445-19C>G)
c.1571-19C>G (n.1571-19C>G)
c.1670-19C>G (n.1670-19C>G)
c.*109-156C>G (n.*109-156C>G)
c.884-19C>G (n.884-19C>G)
c.1821-19C>G
c.*975-19C>G (n.*975-19C>G)
n.281-19C>G
c.1724-19C>G (n.1724-19C>G)
c.1520-19C>G (n.1520-19C>G)
c.1661-19C>G (n.1661-19C>G)
c.1715-19C>G (n.1715-19C>G)
c.1511-19C>G (n.1511-19C>G)
 dbSNP gnomAD v3 gnomAD v4
7g.75985904C>TCA842283560PORc.1445-19C>T (n.1445-19C>T)
c.1571-19C>T (n.1571-19C>T)
c.1670-19C>T (n.1670-19C>T)
c.*109-156C>T (n.*109-156C>T)
c.884-19C>T (n.884-19C>T)
c.1821-19C>T
c.*975-19C>T (n.*975-19C>T)
n.281-19C>T
c.1724-19C>T (n.1724-19C>T)
c.1520-19C>T (n.1520-19C>T)
c.1661-19C>T (n.1661-19C>T)
c.1715-19C>T (n.1715-19C>T)
c.1511-19C>T (n.1511-19C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.75985905C>ACA2683384704PORc.1445-18C>A (n.1445-18C>A)
c.1571-18C>A (n.1571-18C>A)
c.1670-18C>A (n.1670-18C>A)
c.*109-155C>A (n.*109-155C>A)
c.884-18C>A (n.884-18C>A)
c.1821-18C>A
c.*975-18C>A (n.*975-18C>A)
n.281-18C>A
c.1724-18C>A (n.1724-18C>A)
c.1520-18C>A (n.1520-18C>A)
c.1661-18C>A (n.1661-18C>A)
c.1715-18C>A (n.1715-18C>A)
c.1511-18C>A (n.1511-18C>A)
 gnomAD v4
7g.75985906C>ACA2683384705PORc.1445-17C>A (n.1445-17C>A)
c.1571-17C>A (n.1571-17C>A)
c.1670-17C>A (n.1670-17C>A)
c.*109-154C>A (n.*109-154C>A)
c.884-17C>A (n.884-17C>A)
c.1821-17C>A
c.*975-17C>A (n.*975-17C>A)
n.281-17C>A
c.1724-17C>A (n.1724-17C>A)
c.1520-17C>A (n.1520-17C>A)
c.1661-17C>A (n.1661-17C>A)
c.1715-17C>A (n.1715-17C>A)
c.1511-17C>A (n.1511-17C>A)
 gnomAD v4
7g.75985906C=CA1718180416PORc.1445-17C= (n.1445-17C=)
c.1571-17C= (n.1571-17C=)
c.1670-17C= (n.1670-17C=)
c.*109-154C= (n.*109-154C=)
c.884-17C= (n.884-17C=)
c.1821-17C=
c.*975-17C= (n.*975-17C=)
n.281-17C=
c.1724-17C= (n.1724-17C=)
c.1520-17C= (n.1520-17C=)
c.1661-17C= (n.1661-17C=)
c.1715-17C= (n.1715-17C=)
c.1511-17C= (n.1511-17C=)
7g.75985906C>GCA2683384706PORc.1445-17C>G (n.1445-17C>G)
c.1571-17C>G (n.1571-17C>G)
c.1670-17C>G (n.1670-17C>G)
c.*109-154C>G (n.*109-154C>G)
c.884-17C>G (n.884-17C>G)
c.1821-17C>G
c.*975-17C>G (n.*975-17C>G)
n.281-17C>G
c.1724-17C>G (n.1724-17C>G)
c.1520-17C>G (n.1520-17C>G)
c.1661-17C>G (n.1661-17C>G)
c.1715-17C>G (n.1715-17C>G)
c.1511-17C>G (n.1511-17C>G)
 gnomAD v4
7g.75985906C>TCA4304233PORc.1445-17C>T (n.1445-17C>T)
c.1571-17C>T (n.1571-17C>T)
c.1670-17C>T (n.1670-17C>T)
c.*109-154C>T (n.*109-154C>T)
c.884-17C>T (n.884-17C>T)
c.1821-17C>T
c.*975-17C>T (n.*975-17C>T)
n.281-17C>T
c.1724-17C>T (n.1724-17C>T)
c.1520-17C>T (n.1520-17C>T)
c.1661-17C>T (n.1661-17C>T)
c.1715-17C>T (n.1715-17C>T)
c.1511-17C>T (n.1511-17C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985907G>ACA4304234PORc.1445-16G>A (n.1445-16G>A)
c.1571-16G>A (n.1571-16G>A)
c.1670-16G>A (n.1670-16G>A)
c.*109-153G>A (n.*109-153G>A)
c.884-16G>A (n.884-16G>A)
c.1821-16G>A
c.*975-16G>A (n.*975-16G>A)
n.281-16G>A
c.1724-16G>A (n.1724-16G>A)
c.1520-16G>A (n.1520-16G>A)
c.1661-16G>A (n.1661-16G>A)
c.1715-16G>A (n.1715-16G>A)
c.1511-16G>A (n.1511-16G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985907G=CA1718180417PORc.1445-16G= (n.1445-16G=)
c.1571-16G= (n.1571-16G=)
c.1670-16G= (n.1670-16G=)
c.*109-153G= (n.*109-153G=)
c.884-16G= (n.884-16G=)
c.1821-16G=
c.*975-16G= (n.*975-16G=)
n.281-16G=
c.1724-16G= (n.1724-16G=)
c.1520-16G= (n.1520-16G=)
c.1661-16G= (n.1661-16G=)
c.1715-16G= (n.1715-16G=)
c.1511-16G= (n.1511-16G=)
7g.75985907G>TCA2683384708PORc.1445-16G>T (n.1445-16G>T)
c.1571-16G>T (n.1571-16G>T)
c.1670-16G>T (n.1670-16G>T)
c.*109-153G>T (n.*109-153G>T)
c.884-16G>T (n.884-16G>T)
c.1821-16G>T
c.*975-16G>T (n.*975-16G>T)
n.281-16G>T
c.1724-16G>T (n.1724-16G>T)
c.1520-16G>T (n.1520-16G>T)
c.1661-16G>T (n.1661-16G>T)
c.1715-16G>T (n.1715-16G>T)
c.1511-16G>T (n.1511-16G>T)
 gnomAD v4
7g.75985908G>ACA2683384710PORc.1445-15G>A (n.1445-15G>A)
c.1571-15G>A (n.1571-15G>A)
c.1670-15G>A (n.1670-15G>A)
c.*109-152G>A (n.*109-152G>A)
c.884-15G>A (n.884-15G>A)
c.1821-15G>A
c.*975-15G>A (n.*975-15G>A)
n.281-15G>A
c.1724-15G>A (n.1724-15G>A)
c.1520-15G>A (n.1520-15G>A)
c.1661-15G>A (n.1661-15G>A)
c.1715-15G>A (n.1715-15G>A)
c.1511-15G>A (n.1511-15G>A)
 gnomAD v4
7g.75985908G=CA1718180418PORc.1445-15G= (n.1445-15G=)
c.1571-15G= (n.1571-15G=)
c.1670-15G= (n.1670-15G=)
c.*109-152G= (n.*109-152G=)
c.884-15G= (n.884-15G=)
c.1821-15G=
c.*975-15G= (n.*975-15G=)
n.281-15G=
c.1724-15G= (n.1724-15G=)
c.1520-15G= (n.1520-15G=)
c.1661-15G= (n.1661-15G=)
c.1715-15G= (n.1715-15G=)
c.1511-15G= (n.1511-15G=)
7g.75985908G>TCA2683384711PORc.1445-15G>T (n.1445-15G>T)
c.1571-15G>T (n.1571-15G>T)
c.1670-15G>T (n.1670-15G>T)
c.*109-152G>T (n.*109-152G>T)
c.884-15G>T (n.884-15G>T)
c.1821-15G>T
c.*975-15G>T (n.*975-15G>T)
n.281-15G>T
c.1724-15G>T (n.1724-15G>T)
c.1520-15G>T (n.1520-15G>T)
c.1661-15G>T (n.1661-15G>T)
c.1715-15G>T (n.1715-15G>T)
c.1511-15G>T (n.1511-15G>T)
 gnomAD v4
7g.75985909C>ACA2683384715PORc.1445-14C>A (n.1445-14C>A)
c.1571-14C>A (n.1571-14C>A)
c.1670-14C>A (n.1670-14C>A)
c.*109-151C>A (n.*109-151C>A)
c.884-14C>A (n.884-14C>A)
c.1821-14C>A
c.*975-14C>A (n.*975-14C>A)
n.281-14C>A
c.1724-14C>A (n.1724-14C>A)
c.1520-14C>A (n.1520-14C>A)
c.1661-14C>A (n.1661-14C>A)
c.1715-14C>A (n.1715-14C>A)
c.1511-14C>A (n.1511-14C>A)
 gnomAD v4
7g.75985909C>TCA2578915483PORc.1445-14C>T (n.1445-14C>T)
c.1571-14C>T (n.1571-14C>T)
c.1670-14C>T (n.1670-14C>T)
c.*109-151C>T (n.*109-151C>T)
c.884-14C>T (n.884-14C>T)
c.1821-14C>T
c.*975-14C>T (n.*975-14C>T)
n.281-14C>T
c.1724-14C>T (n.1724-14C>T)
c.1520-14C>T (n.1520-14C>T)
c.1661-14C>T (n.1661-14C>T)
c.1715-14C>T (n.1715-14C>T)
c.1511-14C>T (n.1511-14C>T)
 gnomAD v4
7g.75985911_75985912dupCA575786099PORc.1445-12_1445-11dup (n.1445-12_1445-11dup)
c.1571-12_1571-11dup (n.1571-12_1571-11dup)
c.1670-12_1670-11dup (n.1670-12_1670-11dup)
c.*109-149_*109-148dup (n.*109-149_*109-148dup)
c.884-12_884-11dup (n.884-12_884-11dup)
c.1821-12_1821-11dup
c.*975-12_*975-11dup (n.*975-12_*975-11dup)
n.281-12_281-11dup
c.1724-12_1724-11dup (n.1724-12_1724-11dup)
c.1520-12_1520-11dup (n.1520-12_1520-11dup)
c.1661-12_1661-11dup (n.1661-12_1661-11dup)
c.1715-12_1715-11dup (n.1715-12_1715-11dup)
c.1511-12_1511-11dup (n.1511-12_1511-11dup)
 dbSNP gnomAD v2
7g.75985912delCA2683384714PORc.1445-11del (n.1445-11del)
c.1571-11del (n.1571-11del)
c.1670-11del (n.1670-11del)
c.*109-148del (n.*109-148del)
c.884-11del (n.884-11del)
c.1821-11del
c.*975-11del (n.*975-11del)
n.281-11del
c.1724-11del (n.1724-11del)
c.1520-11del (n.1520-11del)
c.1661-11del (n.1661-11del)
c.1715-11del (n.1715-11del)
c.1511-11del (n.1511-11del)
 gnomAD v4
7g.75985910C>ACA2683384716PORc.1445-13C>A (n.1445-13C>A)
c.1571-13C>A (n.1571-13C>A)
c.1670-13C>A (n.1670-13C>A)
c.*109-150C>A (n.*109-150C>A)
c.884-13C>A (n.884-13C>A)
c.1821-13C>A
c.*975-13C>A (n.*975-13C>A)
n.281-13C>A
c.1724-13C>A (n.1724-13C>A)
c.1520-13C>A (n.1520-13C>A)
c.1661-13C>A (n.1661-13C>A)
c.1715-13C>A (n.1715-13C>A)
c.1511-13C>A (n.1511-13C>A)
 gnomAD v4
7g.75985910C=CA1718180419PORc.1445-13C= (n.1445-13C=)
c.1571-13C= (n.1571-13C=)
c.1670-13C= (n.1670-13C=)
c.*109-150C= (n.*109-150C=)
c.884-13C= (n.884-13C=)
c.1821-13C=
c.*975-13C= (n.*975-13C=)
n.281-13C=
c.1724-13C= (n.1724-13C=)
c.1520-13C= (n.1520-13C=)
c.1661-13C= (n.1661-13C=)
c.1715-13C= (n.1715-13C=)
c.1511-13C= (n.1511-13C=)
7g.75985910C>TCA575786100PORc.1445-13C>T (n.1445-13C>T)
c.1571-13C>T (n.1571-13C>T)
c.1670-13C>T (n.1670-13C>T)
c.*109-150C>T (n.*109-150C>T)
c.884-13C>T (n.884-13C>T)
c.1821-13C>T
c.*975-13C>T (n.*975-13C>T)
n.281-13C>T
c.1724-13C>T (n.1724-13C>T)
c.1520-13C>T (n.1520-13C>T)
c.1661-13C>T (n.1661-13C>T)
c.1715-13C>T (n.1715-13C>T)
c.1511-13C>T (n.1511-13C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.75985911C>ACA2683384719PORc.1445-12C>A (n.1445-12C>A)
c.1571-12C>A (n.1571-12C>A)
c.1670-12C>A (n.1670-12C>A)
c.*109-149C>A (n.*109-149C>A)
c.884-12C>A (n.884-12C>A)
c.1821-12C>A
c.*975-12C>A (n.*975-12C>A)
n.281-12C>A
c.1724-12C>A (n.1724-12C>A)
c.1520-12C>A (n.1520-12C>A)
c.1661-12C>A (n.1661-12C>A)
c.1715-12C>A (n.1715-12C>A)
c.1511-12C>A (n.1511-12C>A)
 gnomAD v4
7g.75985911C=CA1718180420PORc.1445-12C= (n.1445-12C=)
c.1571-12C= (n.1571-12C=)
c.1670-12C= (n.1670-12C=)
c.*109-149C= (n.*109-149C=)
c.884-12C= (n.884-12C=)
c.1821-12C=
c.*975-12C= (n.*975-12C=)
n.281-12C=
c.1724-12C= (n.1724-12C=)
c.1520-12C= (n.1520-12C=)
c.1661-12C= (n.1661-12C=)
c.1715-12C= (n.1715-12C=)
c.1511-12C= (n.1511-12C=)
7g.75985911C>GCA4304236PORc.1445-12C>G (n.1445-12C>G)
c.1571-12C>G (n.1571-12C>G)
c.1670-12C>G (n.1670-12C>G)
c.*109-149C>G (n.*109-149C>G)
c.884-12C>G (n.884-12C>G)
c.1821-12C>G
c.*975-12C>G (n.*975-12C>G)
n.281-12C>G
c.1724-12C>G (n.1724-12C>G)
c.1520-12C>G (n.1520-12C>G)
c.1661-12C>G (n.1661-12C>G)
c.1715-12C>G (n.1715-12C>G)
c.1511-12C>G (n.1511-12C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.75985911C>TCA4304235PORc.1445-12C>T (n.1445-12C>T)
c.1571-12C>T (n.1571-12C>T)
c.1670-12C>T (n.1670-12C>T)
c.*109-149C>T (n.*109-149C>T)
c.884-12C>T (n.884-12C>T)
c.1821-12C>T
c.*975-12C>T (n.*975-12C>T)
n.281-12C>T
c.1724-12C>T (n.1724-12C>T)
c.1520-12C>T (n.1520-12C>T)
c.1661-12C>T (n.1661-12C>T)
c.1715-12C>T (n.1715-12C>T)
c.1511-12C>T (n.1511-12C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985912C>ACA2683384724PORc.1445-11C>A (n.1445-11C>A)
c.1571-11C>A (n.1571-11C>A)
c.1670-11C>A (n.1670-11C>A)
c.*109-148C>A (n.*109-148C>A)
c.884-11C>A (n.884-11C>A)
c.1821-11C>A
c.*975-11C>A (n.*975-11C>A)
n.281-11C>A
c.1724-11C>A (n.1724-11C>A)
c.1520-11C>A (n.1520-11C>A)
c.1661-11C>A (n.1661-11C>A)
c.1715-11C>A (n.1715-11C>A)
c.1511-11C>A (n.1511-11C>A)
 gnomAD v4
7g.75985912C>TCA2683384725PORc.1445-11C>T (n.1445-11C>T)
c.1571-11C>T (n.1571-11C>T)
c.1670-11C>T (n.1670-11C>T)
c.*109-148C>T (n.*109-148C>T)
c.884-11C>T (n.884-11C>T)
c.1821-11C>T
c.*975-11C>T (n.*975-11C>T)
n.281-11C>T
c.1724-11C>T (n.1724-11C>T)
c.1520-11C>T (n.1520-11C>T)
c.1661-11C>T (n.1661-11C>T)
c.1715-11C>T (n.1715-11C>T)
c.1511-11C>T (n.1511-11C>T)
 gnomAD v4
7g.75985913T>CCA2683384726PORc.1445-10T>C (n.1445-10T>C)
c.1571-10T>C (n.1571-10T>C)
c.1670-10T>C (n.1670-10T>C)
c.*109-147T>C (n.*109-147T>C)
c.884-10T>C (n.884-10T>C)
c.1821-10T>C
c.*975-10T>C (n.*975-10T>C)
n.281-10T>C
c.1724-10T>C (n.1724-10T>C)
c.1520-10T>C (n.1520-10T>C)
c.1661-10T>C (n.1661-10T>C)
c.1715-10T>C (n.1715-10T>C)
c.1511-10T>C (n.1511-10T>C)
 gnomAD v4
7g.75985913T>GCA2739266480PORc.1445-10T>G (n.1445-10T>G)
c.1571-10T>G (n.1571-10T>G)
c.1670-10T>G (n.1670-10T>G)
c.*109-147T>G (n.*109-147T>G)
c.884-10T>G (n.884-10T>G)
c.1821-10T>G
c.*975-10T>G (n.*975-10T>G)
n.281-10T>G
c.1724-10T>G (n.1724-10T>G)
c.1520-10T>G (n.1520-10T>G)
c.1661-10T>G (n.1661-10T>G)
c.1715-10T>G (n.1715-10T>G)
c.1511-10T>G (n.1511-10T>G)
 ClinVar
7g.75985914G>ACA2683384728PORc.1445-9G>A (n.1445-9G>A)
c.1571-9G>A (n.1571-9G>A)
c.1670-9G>A (n.1670-9G>A)
c.*109-146G>A (n.*109-146G>A)
c.884-9G>A (n.884-9G>A)
c.1821-9G>A
c.*975-9G>A (n.*975-9G>A)
n.281-9G>A
c.1724-9G>A (n.1724-9G>A)
c.1520-9G>A (n.1520-9G>A)
c.1661-9G>A (n.1661-9G>A)
c.1715-9G>A (n.1715-9G>A)
c.1511-9G>A (n.1511-9G>A)
 gnomAD v4
7g.75985914G>TCA2683384727PORc.1445-9G>T (n.1445-9G>T)
c.1571-9G>T (n.1571-9G>T)
c.1670-9G>T (n.1670-9G>T)
c.*109-146G>T (n.*109-146G>T)
c.884-9G>T (n.884-9G>T)
c.1821-9G>T
c.*975-9G>T (n.*975-9G>T)
n.281-9G>T
c.1724-9G>T (n.1724-9G>T)
c.1520-9G>T (n.1520-9G>T)
c.1661-9G>T (n.1661-9G>T)
c.1715-9G>T (n.1715-9G>T)
c.1511-9G>T (n.1511-9G>T)
 gnomAD v4
7g.75985915C>ACA2683384731PORc.1445-8C>A (n.1445-8C>A)
c.1571-8C>A (n.1571-8C>A)
c.1670-8C>A (n.1670-8C>A)
c.*109-145C>A (n.*109-145C>A)
c.884-8C>A (n.884-8C>A)
c.1821-8C>A
c.*975-8C>A (n.*975-8C>A)
n.281-8C>A
c.1724-8C>A (n.1724-8C>A)
c.1520-8C>A (n.1520-8C>A)
c.1661-8C>A (n.1661-8C>A)
c.1715-8C>A (n.1715-8C>A)
c.1511-8C>A (n.1511-8C>A)
 gnomAD v4
7g.75985915C=CA1718180421PORc.1445-8C= (n.1445-8C=)
c.1571-8C= (n.1571-8C=)
c.1670-8C= (n.1670-8C=)
c.*109-145C= (n.*109-145C=)
c.884-8C= (n.884-8C=)
c.1821-8C=
c.*975-8C= (n.*975-8C=)
n.281-8C=
c.1724-8C= (n.1724-8C=)
c.1520-8C= (n.1520-8C=)
c.1661-8C= (n.1661-8C=)
c.1715-8C= (n.1715-8C=)
c.1511-8C= (n.1511-8C=)
7g.75985915C>TCA1718180422PORc.1445-8C>T (n.1445-8C>T)
c.1571-8C>T (n.1571-8C>T)
c.1670-8C>T (n.1670-8C>T)
c.*109-145C>T (n.*109-145C>T)
c.884-8C>T (n.884-8C>T)
c.1821-8C>T
c.*975-8C>T (n.*975-8C>T)
n.281-8C>T
c.1724-8C>T (n.1724-8C>T)
c.1520-8C>T (n.1520-8C>T)
c.1661-8C>T (n.1661-8C>T)
c.1715-8C>T (n.1715-8C>T)
c.1511-8C>T (n.1511-8C>T)
 dbSNP gnomAD v4
7g.75985916C>ACA1103270878PORc.1445-7C>A (n.1445-7C>A)
c.1571-7C>A (n.1571-7C>A)
c.1670-7C>A (n.1670-7C>A)
c.*109-144C>A (n.*109-144C>A)
c.884-7C>A (n.884-7C>A)
c.1821-7C>A
c.*975-7C>A (n.*975-7C>A)
n.281-7C>A
c.1724-7C>A (n.1724-7C>A)
c.1520-7C>A (n.1520-7C>A)
c.1661-7C>A (n.1661-7C>A)
c.1715-7C>A (n.1715-7C>A)
c.1511-7C>A (n.1511-7C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.75985916C=CA1718180423PORc.1445-7C= (n.1445-7C=)
c.1571-7C= (n.1571-7C=)
c.1670-7C= (n.1670-7C=)
c.*109-144C= (n.*109-144C=)
c.884-7C= (n.884-7C=)
c.1821-7C=
c.*975-7C= (n.*975-7C=)
n.281-7C=
c.1724-7C= (n.1724-7C=)
c.1520-7C= (n.1520-7C=)
c.1661-7C= (n.1661-7C=)
c.1715-7C= (n.1715-7C=)
c.1511-7C= (n.1511-7C=)
7g.75985916C>GCA2739266481PORc.1445-7C>G (n.1445-7C>G)
c.1571-7C>G (n.1571-7C>G)
c.1670-7C>G (n.1670-7C>G)
c.*109-144C>G (n.*109-144C>G)
c.884-7C>G (n.884-7C>G)
c.1821-7C>G
c.*975-7C>G (n.*975-7C>G)
n.281-7C>G
c.1724-7C>G (n.1724-7C>G)
c.1520-7C>G (n.1520-7C>G)
c.1661-7C>G (n.1661-7C>G)
c.1715-7C>G (n.1715-7C>G)
c.1511-7C>G (n.1511-7C>G)
 ClinVar
7g.75985916C>TCA575786101PORc.1445-7C>T (n.1445-7C>T)
c.1571-7C>T (n.1571-7C>T)
c.1670-7C>T (n.1670-7C>T)
c.*109-144C>T (n.*109-144C>T)
c.884-7C>T (n.884-7C>T)
c.1821-7C>T
c.*975-7C>T (n.*975-7C>T)
n.281-7C>T
c.1724-7C>T (n.1724-7C>T)
c.1520-7C>T (n.1520-7C>T)
c.1661-7C>T (n.1661-7C>T)
c.1715-7C>T (n.1715-7C>T)
c.1511-7C>T (n.1511-7C>T)
 dbSNP gnomAD v2 gnomAD v4
7g.75985918C>ACA2683384740PORc.1445-5C>A (n.1445-5C>A)
c.1571-5C>A (n.1571-5C>A)
c.1670-5C>A (n.1670-5C>A)
c.*109-142C>A (n.*109-142C>A)
c.884-5C>A (n.884-5C>A)
c.1821-5C>A
c.*975-5C>A (n.*975-5C>A)
n.281-5C>A
c.1724-5C>A (n.1724-5C>A)
c.1520-5C>A (n.1520-5C>A)
c.1661-5C>A (n.1661-5C>A)
c.1715-5C>A (n.1715-5C>A)
c.1511-5C>A (n.1511-5C>A)
 gnomAD v4
7g.75985918C=CA1718180424PORc.1445-5C= (n.1445-5C=)
c.1571-5C= (n.1571-5C=)
c.1670-5C= (n.1670-5C=)
c.*109-142C= (n.*109-142C=)
c.884-5C= (n.884-5C=)
c.1821-5C=
c.*975-5C= (n.*975-5C=)
n.281-5C=
c.1724-5C= (n.1724-5C=)
c.1520-5C= (n.1520-5C=)
c.1661-5C= (n.1661-5C=)
c.1715-5C= (n.1715-5C=)
c.1511-5C= (n.1511-5C=)
7g.75985918C>TCA4304237PORc.1445-5C>T (n.1445-5C>T)
c.1571-5C>T (n.1571-5C>T)
c.1670-5C>T (n.1670-5C>T)
c.*109-142C>T (n.*109-142C>T)
c.884-5C>T (n.884-5C>T)
c.1821-5C>T
c.*975-5C>T (n.*975-5C>T)
n.281-5C>T
c.1724-5C>T (n.1724-5C>T)
c.1520-5C>T (n.1520-5C>T)
c.1661-5C>T (n.1661-5C>T)
c.1715-5C>T (n.1715-5C>T)
c.1511-5C>T (n.1511-5C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.75985919G>ACA4304238PORc.1445-4G>A (n.1445-4G>A)
c.1571-4G>A (n.1571-4G>A)
c.1670-4G>A (n.1670-4G>A)
c.*109-141G>A (n.*109-141G>A)
c.884-4G>A (n.884-4G>A)
c.1821-4G>A
c.*975-4G>A (n.*975-4G>A)
n.281-4G>A
c.1724-4G>A (n.1724-4G>A)
c.1520-4G>A (n.1520-4G>A)
c.1661-4G>A (n.1661-4G>A)
c.1715-4G>A (n.1715-4G>A)
c.1511-4G>A (n.1511-4G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985919G=CA1718180425PORc.1445-4G= (n.1445-4G=)
c.1571-4G= (n.1571-4G=)
c.1670-4G= (n.1670-4G=)
c.*109-141G= (n.*109-141G=)
c.884-4G= (n.884-4G=)
c.1821-4G=
c.*975-4G= (n.*975-4G=)
n.281-4G=
c.1724-4G= (n.1724-4G=)
c.1520-4G= (n.1520-4G=)
c.1661-4G= (n.1661-4G=)
c.1715-4G= (n.1715-4G=)
c.1511-4G= (n.1511-4G=)
7g.75985920C>ACA2683384749PORc.1445-3C>A (n.1445-3C>A)
c.1571-3C>A (n.1571-3C>A)
c.1670-3C>A (n.1670-3C>A)
c.*109-140C>A (n.*109-140C>A)
c.884-3C>A (n.884-3C>A)
c.1821-3C>A
c.*975-3C>A (n.*975-3C>A)
n.281-3C>A
c.1724-3C>A (n.1724-3C>A)
c.1520-3C>A (n.1520-3C>A)
c.1661-3C>A (n.1661-3C>A)
c.1715-3C>A (n.1715-3C>A)
c.1511-3C>A (n.1511-3C>A)
 gnomAD v4
7g.75985920C=CA1718180426PORc.1445-3C= (n.1445-3C=)
c.1571-3C= (n.1571-3C=)
c.1670-3C= (n.1670-3C=)
c.*109-140C= (n.*109-140C=)
c.884-3C= (n.884-3C=)
c.1821-3C=
c.*975-3C= (n.*975-3C=)
n.281-3C=
c.1724-3C= (n.1724-3C=)
c.1520-3C= (n.1520-3C=)
c.1661-3C= (n.1661-3C=)
c.1715-3C= (n.1715-3C=)
c.1511-3C= (n.1511-3C=)
7g.75985920C>TCA4304239PORc.1445-3C>T (n.1445-3C>T)
c.1571-3C>T (n.1571-3C>T)
c.1670-3C>T (n.1670-3C>T)
c.*109-140C>T (n.*109-140C>T)
c.884-3C>T (n.884-3C>T)
c.1821-3C>T
c.*975-3C>T (n.*975-3C>T)
n.281-3C>T
c.1724-3C>T (n.1724-3C>T)
c.1520-3C>T (n.1520-3C>T)
c.1661-3C>T (n.1661-3C>T)
c.1715-3C>T (n.1715-3C>T)
c.1511-3C>T (n.1511-3C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985921A>CCA367750424PORc.1445-2A>C (n.1445-2A>C)
c.1571-2A>C (n.1571-2A>C)
c.1670-2A>C (n.1670-2A>C)
c.*109-139A>C (n.*109-139A>C)
c.884-2A>C (n.884-2A>C)
c.1821-2A>C
c.*975-2A>C (n.*975-2A>C)
n.281-2A>C
c.1724-2A>C (n.1724-2A>C)
c.1520-2A>C (n.1520-2A>C)
c.1661-2A>C (n.1661-2A>C)
c.1715-2A>C (n.1715-2A>C)
c.1511-2A>C (n.1511-2A>C)
7g.75985921A>GCA367750425PORc.1445-2A>G (n.1445-2A>G)
c.1571-2A>G (n.1571-2A>G)
c.1670-2A>G (n.1670-2A>G)
c.*109-139A>G (n.*109-139A>G)
c.884-2A>G (n.884-2A>G)
c.1821-2A>G
c.*975-2A>G (n.*975-2A>G)
n.281-2A>G
c.1724-2A>G (n.1724-2A>G)
c.1520-2A>G (n.1520-2A>G)
c.1661-2A>G (n.1661-2A>G)
c.1715-2A>G (n.1715-2A>G)
c.1511-2A>G (n.1511-2A>G)
 ClinVar gnomAD v4
7g.75985921A>TCA367750426PORc.1445-2A>T (n.1445-2A>T)
c.1571-2A>T (n.1571-2A>T)
c.1670-2A>T (n.1670-2A>T)
c.*109-139A>T (n.*109-139A>T)
c.884-2A>T (n.884-2A>T)
c.1821-2A>T
c.*975-2A>T (n.*975-2A>T)
n.281-2A>T
c.1724-2A>T (n.1724-2A>T)
c.1520-2A>T (n.1520-2A>T)
c.1661-2A>T (n.1661-2A>T)
c.1715-2A>T (n.1715-2A>T)
c.1511-2A>T (n.1511-2A>T)
7g.75985922G>ACA367750427PORc.1445-1G>A (n.1445-1G>A)
c.1571-1G>A (n.1571-1G>A)
c.1670-1G>A (n.1670-1G>A)
c.*109-138G>A (n.*109-138G>A)
c.884-1G>A (n.884-1G>A)
c.1821-1G>A
c.*975-1G>A (n.*975-1G>A)
n.281-1G>A
c.1724-1G>A (n.1724-1G>A)
c.1520-1G>A (n.1520-1G>A)
c.1661-1G>A (n.1661-1G>A)
c.1715-1G>A (n.1715-1G>A)
c.1511-1G>A (n.1511-1G>A)
 gnomAD v4
7g.75985922G>CCA367750428PORc.1445-1G>C (n.1445-1G>C)
c.1571-1G>C (n.1571-1G>C)
c.1670-1G>C (n.1670-1G>C)
c.*109-138G>C (n.*109-138G>C)
c.884-1G>C (n.884-1G>C)
c.1821-1G>C
c.*975-1G>C (n.*975-1G>C)
n.281-1G>C
c.1724-1G>C (n.1724-1G>C)
c.1520-1G>C (n.1520-1G>C)
c.1661-1G>C (n.1661-1G>C)
c.1715-1G>C (n.1715-1G>C)
c.1511-1G>C (n.1511-1G>C)
7g.75985922G>TCA367750429PORc.1445-1G>T (n.1445-1G>T)
c.1571-1G>T (n.1571-1G>T)
c.1670-1G>T (n.1670-1G>T)
c.*109-138G>T (n.*109-138G>T)
c.884-1G>T (n.884-1G>T)
c.1821-1G>T
c.*975-1G>T (n.*975-1G>T)
n.281-1G>T
c.1724-1G>T (n.1724-1G>T)
c.1520-1G>T (n.1520-1G>T)
c.1661-1G>T (n.1661-1G>T)
c.1715-1G>T (n.1715-1G>T)
c.1511-1G>T (n.1511-1G>T)
7g.75985923G>ACA367750430PORc.1445G>A (p.Gly482Asp)
c.1571G>A (p.Gly524Asp)
c.1670G>A (p.Gly557Asp)
c.*109-137G>A (n.*109-137G>A)
c.884G>A (p.Gly295Asp)
c.1821G>A
c.*975G>A (n.*975G>A)
n.281G>A
c.1724G>A (p.Gly575Asp)
c.1520G>A (p.Gly507Asp)
c.1661G>A (p.Gly554Asp)
c.1715G>A (p.Gly572Asp)
c.1511G>A (p.Gly504Asp)
 gnomAD v4
7g.75985923G>CCA367750431PORc.1445G>C (p.Gly482Ala)
c.1571G>C (p.Gly524Ala)
c.1670G>C (p.Gly557Ala)
c.*109-137G>C (n.*109-137G>C)
c.884G>C (p.Gly295Ala)
c.1821G>C
c.*975G>C (n.*975G>C)
n.281G>C
c.1724G>C (p.Gly575Ala)
c.1520G>C (p.Gly507Ala)
c.1661G>C (p.Gly554Ala)
c.1715G>C (p.Gly572Ala)
c.1511G>C (p.Gly504Ala)
7g.75985923G=CA1718180427PORc.1445G= (p.Gly482=)
c.1571G= (p.Gly524=)
c.1670G= (p.Gly557=)
c.*109-137G= (n.*109-137G=)
c.884G= (p.Gly295=)
c.1821G=
c.*975G= (n.*975G=)
n.281G=
c.1724G= (p.Gly575=)
c.1520G= (p.Gly507=)
c.1661G= (p.Gly554=)
c.1715G= (p.Gly572=)
c.1511G= (p.Gly504=)
7g.75985923G>TCA4304240PORc.1445G>T (p.Gly482Val)
c.1571G>T (p.Gly524Val)
c.1670G>T (p.Gly557Val)
c.*109-137G>T (n.*109-137G>T)
c.884G>T (p.Gly295Val)
c.1821G>T
c.*975G>T (n.*975G>T)
n.281G>T
c.1724G>T (p.Gly575Val)
c.1520G>T (p.Gly507Val)
c.1661G>T (p.Gly554Val)
c.1715G>T (p.Gly572Val)
c.1511G>T (p.Gly504Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985924C>ACA456331340PORc.1446C>A (p.Gly482=)
c.1572C>A (p.Gly524=)
c.1671C>A (p.Gly557=)
c.*109-136C>A (n.*109-136C>A)
c.885C>A (p.Gly295=)
c.1822C>A
c.*976C>A (n.*976C>A)
n.282C>A
c.1725C>A (p.Gly575=)
c.1521C>A (p.Gly507=)
c.1662C>A (p.Gly554=)
c.1716C>A (p.Gly572=)
c.1512C>A (p.Gly504=)
 gnomAD v4
7g.75985924C=CA1718180428PORc.1446C= (p.Gly482=)
c.1572C= (p.Gly524=)
c.1671C= (p.Gly557=)
c.*109-136C= (n.*109-136C=)
c.885C= (p.Gly295=)
c.1822C=
c.*976C= (n.*976C=)
n.282C=
c.1725C= (p.Gly575=)
c.1521C= (p.Gly507=)
c.1662C= (p.Gly554=)
c.1716C= (p.Gly572=)
c.1512C= (p.Gly504=)
7g.75985924C>GCA456331341PORc.1446C>G (p.Gly482=)
c.1572C>G (p.Gly524=)
c.1671C>G (p.Gly557=)
c.*109-136C>G (n.*109-136C>G)
c.885C>G (p.Gly295=)
c.1822C>G
c.*976C>G (n.*976C>G)
n.282C>G
c.1725C>G (p.Gly575=)
c.1521C>G (p.Gly507=)
c.1662C>G (p.Gly554=)
c.1716C>G (p.Gly572=)
c.1512C>G (p.Gly504=)
7g.75985924C>TCA4304241PORc.1446C>T (p.Gly482=)
c.1572C>T (p.Gly524=)
c.1671C>T (p.Gly557=)
c.*109-136C>T (n.*109-136C>T)
c.885C>T (p.Gly295=)
c.1822C>T
c.*976C>T (n.*976C>T)
n.282C>T
c.1725C>T (p.Gly575=)
c.1521C>T (p.Gly507=)
c.1662C>T (p.Gly554=)
c.1716C>T (p.Gly572=)
c.1512C>T (p.Gly504=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985925A>CCA367750432PORc.1447A>C (p.Lys483Gln)
c.1573A>C (p.Lys525Gln)
c.1672A>C (p.Lys558Gln)
c.*109-135A>C (n.*109-135A>C)
c.886A>C (p.Lys296Gln)
c.1823A>C
c.*977A>C (n.*977A>C)
n.283A>C
c.1726A>C (p.Lys576Gln)
c.1522A>C (p.Lys508Gln)
c.1663A>C (p.Lys555Gln)
c.1717A>C (p.Lys573Gln)
c.1513A>C (p.Lys505Gln)
7g.75985925A>GCA367750433PORc.1447A>G (p.Lys483Glu)
c.1573A>G (p.Lys525Glu)
c.1672A>G (p.Lys558Glu)
c.*109-135A>G (n.*109-135A>G)
c.886A>G (p.Lys296Glu)
c.1823A>G
c.*977A>G (n.*977A>G)
n.283A>G
c.1726A>G (p.Lys576Glu)
c.1522A>G (p.Lys508Glu)
c.1663A>G (p.Lys555Glu)
c.1717A>G (p.Lys573Glu)
c.1513A>G (p.Lys505Glu)
7g.75985925A>TCA367750434PORc.1447A>T (p.Lys483Ter)
c.1573A>T (p.Lys525Ter)
c.1672A>T (p.Lys558Ter)
c.*109-135A>T (n.*109-135A>T)
c.886A>T (p.Lys296Ter)
c.1823A>T
c.*977A>T (n.*977A>T)
n.283A>T
c.1726A>T (p.Lys576Ter)
c.1522A>T (p.Lys508Ter)
c.1663A>T (p.Lys555Ter)
c.1717A>T (p.Lys573Ter)
c.1513A>T (p.Lys505Ter)
 gnomAD v4
7g.75985926A>CCA367750435PORc.1448A>C (p.Lys483Thr)
c.1574A>C (p.Lys525Thr)
c.1673A>C (p.Lys558Thr)
c.*109-134A>C (n.*109-134A>C)
c.887A>C (p.Lys296Thr)
c.1824A>C
c.*978A>C (n.*978A>C)
n.284A>C
c.1727A>C (p.Lys576Thr)
c.1523A>C (p.Lys508Thr)
c.1664A>C (p.Lys555Thr)
c.1718A>C (p.Lys573Thr)
c.1514A>C (p.Lys505Thr)
7g.75985926A>GCA367750437PORc.1448A>G (p.Lys483Arg)
c.1574A>G (p.Lys525Arg)
c.1673A>G (p.Lys558Arg)
c.*109-134A>G (n.*109-134A>G)
c.887A>G (p.Lys296Arg)
c.1824A>G
c.*978A>G (n.*978A>G)
n.284A>G
c.1727A>G (p.Lys576Arg)
c.1523A>G (p.Lys508Arg)
c.1664A>G (p.Lys555Arg)
c.1718A>G (p.Lys573Arg)
c.1514A>G (p.Lys505Arg)
7g.75985926A>TCA367750436PORc.1448A>T (p.Lys483Met)
c.1574A>T (p.Lys525Met)
c.1673A>T (p.Lys558Met)
c.*109-134A>T (n.*109-134A>T)
c.887A>T (p.Lys296Met)
c.1824A>T
c.*978A>T (n.*978A>T)
n.284A>T
c.1727A>T (p.Lys576Met)
c.1523A>T (p.Lys508Met)
c.1664A>T (p.Lys555Met)
c.1718A>T (p.Lys573Met)
c.1514A>T (p.Lys505Met)
7g.75985927G>ACA456331342PORc.1449G>A (p.Lys483=)
c.1575G>A (p.Lys525=)
c.1674G>A (p.Lys558=)
c.*109-133G>A (n.*109-133G>A)
c.888G>A (p.Lys296=)
c.1825G>A
c.*979G>A (n.*979G>A)
n.285G>A
c.1728G>A (p.Lys576=)
c.1524G>A (p.Lys508=)
c.1665G>A (p.Lys555=)
c.1719G>A (p.Lys573=)
c.1515G>A (p.Lys505=)
7g.75985927G>CCA367750438PORc.1449G>C (p.Lys483Asn)
c.1575G>C (p.Lys525Asn)
c.1674G>C (p.Lys558Asn)
c.*109-133G>C (n.*109-133G>C)
c.888G>C (p.Lys296Asn)
c.1825G>C
c.*979G>C (n.*979G>C)
n.285G>C
c.1728G>C (p.Lys576Asn)
c.1524G>C (p.Lys508Asn)
c.1665G>C (p.Lys555Asn)
c.1719G>C (p.Lys573Asn)
c.1515G>C (p.Lys505Asn)
7g.75985927G>TCA367750439PORc.1449G>T (p.Lys483Asn)
c.1575G>T (p.Lys525Asn)
c.1674G>T (p.Lys558Asn)
c.*109-133G>T (n.*109-133G>T)
c.888G>T (p.Lys296Asn)
c.1825G>T
c.*979G>T (n.*979G>T)
n.285G>T
c.1728G>T (p.Lys576Asn)
c.1524G>T (p.Lys508Asn)
c.1665G>T (p.Lys555Asn)
c.1719G>T (p.Lys573Asn)
c.1515G>T (p.Lys505Asn)
7g.75985928G>ACA4304242PORc.1450G>A (p.Glu484Lys)
c.1576G>A (p.Glu526Lys)
c.1675G>A (p.Glu559Lys)
c.*109-132G>A (n.*109-132G>A)
c.889G>A (p.Glu297Lys)
c.1826G>A
c.*980G>A (n.*980G>A)
n.286G>A
c.1729G>A (p.Glu577Lys)
c.1525G>A (p.Glu509Lys)
c.1666G>A (p.Glu556Lys)
c.1720G>A (p.Glu574Lys)
c.1516G>A (p.Glu506Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
7g.75985928G>CCA367750440PORc.1450G>C (p.Glu484Gln)
c.1576G>C (p.Glu526Gln)
c.1675G>C (p.Glu559Gln)
c.*109-132G>C (n.*109-132G>C)
c.889G>C (p.Glu297Gln)
c.1826G>C
c.*980G>C (n.*980G>C)
n.286G>C
c.1729G>C (p.Glu577Gln)
c.1525G>C (p.Glu509Gln)
c.1666G>C (p.Glu556Gln)
c.1720G>C (p.Glu574Gln)
c.1516G>C (p.Glu506Gln)
7g.75985928G=CA1718180429PORc.1450G= (p.Glu484=)
c.1576G= (p.Glu526=)
c.1675G= (p.Glu559=)
c.*109-132G= (n.*109-132G=)
c.889G= (p.Glu297=)
c.1826G=
c.*980G= (n.*980G=)
n.286G=
c.1729G= (p.Glu577=)
c.1525G= (p.Glu509=)
c.1666G= (p.Glu556=)
c.1720G= (p.Glu574=)
c.1516G= (p.Glu506=)
7g.75985928G>TCA367750441PORc.1450G>T (p.Glu484Ter)
c.1576G>T (p.Glu526Ter)
c.1675G>T (p.Glu559Ter)
c.*109-132G>T (n.*109-132G>T)
c.889G>T (p.Glu297Ter)
c.1826G>T
c.*980G>T (n.*980G>T)
n.286G>T
c.1729G>T (p.Glu577Ter)
c.1525G>T (p.Glu509Ter)
c.1666G>T (p.Glu556Ter)
c.1720G>T (p.Glu574Ter)
c.1516G>T (p.Glu506Ter)
 gnomAD v4
7g.75985929A=CA1718180430PORc.1451A= (p.Glu484=)
c.1577A= (p.Glu526=)
c.1676A= (p.Glu559=)
c.*109-131A= (n.*109-131A=)
c.890A= (p.Glu297=)
c.1827A=
c.*981A= (n.*981A=)
n.287A=
c.1730A= (p.Glu577=)
c.1526A= (p.Glu509=)
c.1667A= (p.Glu556=)
c.1721A= (p.Glu574=)
c.1517A= (p.Glu506=)
7g.75985929A>CCA367750442PORc.1451A>C (p.Glu484Ala)
c.1577A>C (p.Glu526Ala)
c.1676A>C (p.Glu559Ala)
c.*109-131A>C (n.*109-131A>C)
c.890A>C (p.Glu297Ala)
c.1827A>C
c.*981A>C (n.*981A>C)
n.287A>C
c.1730A>C (p.Glu577Ala)
c.1526A>C (p.Glu509Ala)
c.1667A>C (p.Glu556Ala)
c.1721A>C (p.Glu574Ala)
c.1517A>C (p.Glu506Ala)
7g.75985929A>GCA367750443PORc.1451A>G (p.Glu484Gly)
c.1577A>G (p.Glu526Gly)
c.1676A>G (p.Glu559Gly)
c.*109-131A>G (n.*109-131A>G)
c.890A>G (p.Glu297Gly)
c.1827A>G
c.*981A>G (n.*981A>G)
n.287A>G
c.1730A>G (p.Glu577Gly)
c.1526A>G (p.Glu509Gly)
c.1667A>G (p.Glu556Gly)
c.1721A>G (p.Glu574Gly)
c.1517A>G (p.Glu506Gly)
7g.75985929A>TCA4304243PORc.1451A>T (p.Glu484Val)
c.1577A>T (p.Glu526Val)
c.1676A>T (p.Glu559Val)
c.*109-131A>T (n.*109-131A>T)
c.890A>T (p.Glu297Val)
c.1827A>T
c.*981A>T (n.*981A>T)
n.287A>T
c.1730A>T (p.Glu577Val)
c.1526A>T (p.Glu509Val)
c.1667A>T (p.Glu556Val)
c.1721A>T (p.Glu574Val)
c.1517A>T (p.Glu506Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.75985930G>ACA456331343PORc.1452G>A (p.Glu484=)
c.1578G>A (p.Glu526=)
c.1677G>A (p.Glu559=)
c.*109-130G>A (n.*109-130G>A)
c.891G>A (p.Glu297=)
c.1828G>A
c.*982G>A (n.*982G>A)
n.288G>A
c.1731G>A (p.Glu577=)
c.1527G>A (p.Glu509=)
c.1668G>A (p.Glu556=)
c.1722G>A (p.Glu574=)
c.1518G>A (p.Glu506=)
7g.75985930G>CCA367750444PORc.1452G>C (p.Glu484Asp)
c.1578G>C (p.Glu526Asp)
c.1677G>C (p.Glu559Asp)
c.*109-130G>C (n.*109-130G>C)
c.891G>C (p.Glu297Asp)
c.1828G>C
c.*982G>C (n.*982G>C)
n.288G>C
c.1731G>C (p.Glu577Asp)
c.1527G>C (p.Glu509Asp)
c.1668G>C (p.Glu556Asp)
c.1722G>C (p.Glu574Asp)
c.1518G>C (p.Glu506Asp)
7g.75985930G>TCA367750445PORc.1452G>T (p.Glu484Asp)
c.1578G>T (p.Glu526Asp)
c.1677G>T (p.Glu559Asp)
c.*109-130G>T (n.*109-130G>T)
c.891G>T (p.Glu297Asp)
c.1828G>T
c.*982G>T (n.*982G>T)
n.288G>T
c.1731G>T (p.Glu577Asp)
c.1527G>T (p.Glu509Asp)
c.1668G>T (p.Glu556Asp)
c.1722G>T (p.Glu574Asp)
c.1518G>T (p.Glu506Asp)
 gnomAD v4
7g.75985931G>ACA367750448PORc.1453G>A (p.Val485Met)
c.1579G>A (p.Val527Met)
c.1678G>A (p.Val560Met)
c.*109-129G>A (n.*109-129G>A)
c.892G>A (p.Val298Met)
c.1829G>A
c.*983G>A (n.*983G>A)
n.289G>A
c.1732G>A (p.Val578Met)
c.1528G>A (p.Val510Met)
c.1669G>A (p.Val557Met)
c.1723G>A (p.Val575Met)
c.1519G>A (p.Val507Met)
7g.75985931G>CCA367750447PORc.1453G>C (p.Val485Leu)
c.1579G>C (p.Val527Leu)
c.1678G>C (p.Val560Leu)
c.*109-129G>C (n.*109-129G>C)
c.892G>C (p.Val298Leu)
c.1829G>C
c.*983G>C (n.*983G>C)
n.289G>C
c.1732G>C (p.Val578Leu)
c.1528G>C (p.Val510Leu)
c.1669G>C (p.Val557Leu)
c.1723G>C (p.Val575Leu)
c.1519G>C (p.Val507Leu)
7g.75985931G>TCA367750446PORc.1453G>T (p.Val485Leu)
c.1579G>T (p.Val527Leu)
c.1678G>T (p.Val560Leu)
c.*109-129G>T (n.*109-129G>T)
c.892G>T (p.Val298Leu)
c.1829G>T
c.*983G>T (n.*983G>T)
n.289G>T
c.1732G>T (p.Val578Leu)
c.1528G>T (p.Val510Leu)
c.1669G>T (p.Val557Leu)
c.1723G>T (p.Val575Leu)
c.1519G>T (p.Val507Leu)
 gnomAD v4
7g.75985932T>ACA367750449PORc.1454T>A (p.Val485Glu)
c.1580T>A (p.Val527Glu)
c.1679T>A (p.Val560Glu)
c.*109-128T>A (n.*109-128T>A)
c.893T>A (p.Val298Glu)
c.1830T>A
c.*984T>A (n.*984T>A)
n.290T>A
c.1733T>A (p.Val578Glu)
c.1529T>A (p.Val510Glu)
c.1670T>A (p.Val557Glu)
c.1724T>A (p.Val575Glu)
c.1520T>A (p.Val507Glu)
 gnomAD v4
7g.75985932T>CCA367750450PORc.1454T>C (p.Val485Ala)
c.1580T>C (p.Val527Ala)
c.1679T>C (p.Val560Ala)
c.*109-128T>C (n.*109-128T>C)
c.893T>C (p.Val298Ala)
c.1830T>C
c.*984T>C (n.*984T>C)
n.290T>C
c.1733T>C (p.Val578Ala)
c.1529T>C (p.Val510Ala)
c.1670T>C (p.Val557Ala)
c.1724T>C (p.Val575Ala)
c.1520T>C (p.Val507Ala)
7g.75985932T>GCA367750451PORc.1454T>G (p.Val485Gly)
c.1580T>G (p.Val527Gly)
c.1679T>G (p.Val560Gly)
c.*109-128T>G (n.*109-128T>G)
c.893T>G (p.Val298Gly)
c.1830T>G
c.*984T>G (n.*984T>G)
n.290T>G
c.1733T>G (p.Val578Gly)
c.1529T>G (p.Val510Gly)
c.1670T>G (p.Val557Gly)
c.1724T>G (p.Val575Gly)
c.1520T>G (p.Val507Gly)
 dbSNP gnomAD v4
7g.75985932T=CA1718180431PORc.1454T= (p.Val485=)
c.1580T= (p.Val527=)
c.1679T= (p.Val560=)
c.*109-128T= (n.*109-128T=)
c.893T= (p.Val298=)
c.1830T=
c.*984T= (n.*984T=)
n.290T=
c.1733T= (p.Val578=)
c.1529T= (p.Val510=)
c.1670T= (p.Val557=)
c.1724T= (p.Val575=)
c.1520T= (p.Val507=)
7g.75985933G>ACA456331344PORc.1455G>A (p.Val485=)
c.1581G>A (p.Val527=)
c.1680G>A (p.Val560=)
c.*109-127G>A (n.*109-127G>A)
c.894G>A (p.Val298=)
c.1831G>A
c.*985G>A (n.*985G>A)
n.291G>A
c.1734G>A (p.Val578=)
c.1530G>A (p.Val510=)
c.1671G>A (p.Val557=)
c.1725G>A (p.Val575=)
c.1521G>A (p.Val507=)
 dbSNP gnomAD v2 gnomAD v4
7g.75985933G>CCA4304245PORc.1455G>C (p.Val485=)
c.1581G>C (p.Val527=)
c.1680G>C (p.Val560=)
c.*109-127G>C (n.*109-127G>C)
c.894G>C (p.Val298=)
c.1831G>C
c.*985G>C (n.*985G>C)
n.291G>C
c.1734G>C (p.Val578=)
c.1530G>C (p.Val510=)
c.1671G>C (p.Val557=)
c.1725G>C (p.Val575=)
c.1521G>C (p.Val507=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985933G=CA1718180432PORc.1455G= (p.Val485=)
c.1581G= (p.Val527=)
c.1680G= (p.Val560=)
c.*109-127G= (n.*109-127G=)
c.894G= (p.Val298=)
c.1831G=
c.*985G= (n.*985G=)
n.291G=
c.1734G= (p.Val578=)
c.1530G= (p.Val510=)
c.1671G= (p.Val557=)
c.1725G= (p.Val575=)
c.1521G= (p.Val507=)
7g.75985933G>TCA4304244PORc.1455G>T (p.Val485=)
c.1581G>T (p.Val527=)
c.1680G>T (p.Val560=)
c.*109-127G>T (n.*109-127G>T)
c.894G>T (p.Val298=)
c.1831G>T
c.*985G>T (n.*985G>T)
n.291G>T
c.1734G>T (p.Val578=)
c.1530G>T (p.Val510=)
c.1671G>T (p.Val557=)
c.1725G>T (p.Val575=)
c.1521G>T (p.Val507=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.75985937dupCA2582341728PORc.1459dup (p.Glu487GlyfsTer13)
c.1585dup (p.Glu529GlyfsTer13)
c.1684dup (p.Glu562GlyfsTer13)
c.*109-123dup (n.*109-123dup)
c.898dup (p.Glu300GlyfsTer13)
c.1835dup
c.*989dup (n.*989dup)
n.295dup
c.1738dup (p.Glu580GlyfsTer13)
c.1534dup (p.Glu512GlyfsTer13)
c.1675dup (p.Glu559GlyfsTer13)
c.1729dup (p.Glu577GlyfsTer13)
c.1525dup (p.Glu509GlyfsTer13)
 ClinVar
7g.75985937delCA2683384809PORc.1459del (p.Glu487ArgfsTer?)
c.1585del (p.Glu529ArgfsTer?)
c.1684del (p.Glu562ArgfsTer?)
c.*109-123del (n.*109-123del)
c.898del (p.Glu300ArgfsTer?)
c.1835del
c.*989del (n.*989del)
n.295del
c.1738del (p.Glu580ArgfsTer?)
c.1534del (p.Glu512ArgfsTer?)
c.1675del (p.Glu559ArgfsTer?)
c.1729del (p.Glu577ArgfsTer?)
c.1525del (p.Glu509ArgfsTer?)
 gnomAD v4
7g.75985934G>ACA367750453PORc.1456G>A (p.Gly486Arg)
c.1582G>A (p.Gly528Arg)
c.1681G>A (p.Gly561Arg)
c.*109-126G>A (n.*109-126G>A)
c.895G>A (p.Gly299Arg)
c.1832G>A
c.*986G>A (n.*986G>A)
n.292G>A
c.1735G>A (p.Gly579Arg)
c.1531G>A (p.Gly511Arg)
c.1672G>A (p.Gly558Arg)
c.1726G>A (p.Gly576Arg)
c.1522G>A (p.Gly508Arg)
 gnomAD v4
7g.75985934G>CCA4304246PORc.1456G>C (p.Gly486Arg)
c.1582G>C (p.Gly528Arg)
c.1681G>C (p.Gly561Arg)
c.*109-126G>C (n.*109-126G>C)
c.895G>C (p.Gly299Arg)
c.1832G>C
c.*986G>C (n.*986G>C)
n.292G>C
c.1735G>C (p.Gly579Arg)
c.1531G>C (p.Gly511Arg)
c.1672G>C (p.Gly558Arg)
c.1726G>C (p.Gly576Arg)
c.1522G>C (p.Gly508Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985934G=CA1718180433PORc.1456G= (p.Gly486=)
c.1582G= (p.Gly528=)
c.1681G= (p.Gly561=)
c.*109-126G= (n.*109-126G=)
c.895G= (p.Gly299=)
c.1832G=
c.*986G= (n.*986G=)
n.292G=
c.1735G= (p.Gly579=)
c.1531G= (p.Gly511=)
c.1672G= (p.Gly558=)
c.1726G= (p.Gly576=)
c.1522G= (p.Gly508=)
7g.75985934G>TCA367750452PORc.1456G>T (p.Gly486Trp)
c.1582G>T (p.Gly528Trp)
c.1681G>T (p.Gly561Trp)
c.*109-126G>T (n.*109-126G>T)
c.895G>T (p.Gly299Trp)
c.1832G>T
c.*986G>T (n.*986G>T)
n.292G>T
c.1735G>T (p.Gly579Trp)
c.1531G>T (p.Gly511Trp)
c.1672G>T (p.Gly558Trp)
c.1726G>T (p.Gly576Trp)
c.1522G>T (p.Gly508Trp)
 gnomAD v4
7g.75985935G>ACA367750454PORc.1457G>A (p.Gly486Glu)
c.1583G>A (p.Gly528Glu)
c.1682G>A (p.Gly561Glu)
c.*109-125G>A (n.*109-125G>A)
c.896G>A (p.Gly299Glu)
c.1833G>A
c.*987G>A (n.*987G>A)
n.293G>A
c.1736G>A (p.Gly579Glu)
c.1532G>A (p.Gly511Glu)
c.1673G>A (p.Gly558Glu)
c.1727G>A (p.Gly576Glu)
c.1523G>A (p.Gly508Glu)
 gnomAD v4
7g.75985935G>CCA367750455PORc.1457G>C (p.Gly486Ala)
c.1583G>C (p.Gly528Ala)
c.1682G>C (p.Gly561Ala)
c.*109-125G>C (n.*109-125G>C)
c.896G>C (p.Gly299Ala)
c.1833G>C
c.*987G>C (n.*987G>C)
n.293G>C
c.1736G>C (p.Gly579Ala)
c.1532G>C (p.Gly511Ala)
c.1673G>C (p.Gly558Ala)
c.1727G>C (p.Gly576Ala)
c.1523G>C (p.Gly508Ala)
7g.75985935G>TCA367750456PORc.1457G>T (p.Gly486Val)
c.1583G>T (p.Gly528Val)
c.1682G>T (p.Gly561Val)
c.*109-125G>T (n.*109-125G>T)
c.896G>T (p.Gly299Val)
c.1833G>T
c.*987G>T (n.*987G>T)
n.293G>T
c.1736G>T (p.Gly579Val)
c.1532G>T (p.Gly511Val)
c.1673G>T (p.Gly558Val)
c.1727G>T (p.Gly576Val)
c.1523G>T (p.Gly508Val)
 gnomAD v4
7g.75985936G>ACA456331345PORc.1458G>A (p.Gly486=)
c.1584G>A (p.Gly528=)
c.1683G>A (p.Gly561=)
c.*109-124G>A (n.*109-124G>A)
c.897G>A (p.Gly299=)
c.1834G>A
c.*988G>A (n.*988G>A)
n.294G>A
c.1737G>A (p.Gly579=)
c.1533G>A (p.Gly511=)
c.1674G>A (p.Gly558=)
c.1728G>A (p.Gly576=)
c.1524G>A (p.Gly508=)
 ClinVar gnomAD v4
7g.75985936G>CCA456331346PORc.1458G>C (p.Gly486=)
c.1584G>C (p.Gly528=)
c.1683G>C (p.Gly561=)
c.*109-124G>C (n.*109-124G>C)
c.897G>C (p.Gly299=)
c.1834G>C
c.*988G>C (n.*988G>C)
n.294G>C
c.1737G>C (p.Gly579=)
c.1533G>C (p.Gly511=)
c.1674G>C (p.Gly558=)
c.1728G>C (p.Gly576=)
c.1524G>C (p.Gly508=)
7g.75985936G>TCA456331347PORc.1458G>T (p.Gly486=)
c.1584G>T (p.Gly528=)
c.1683G>T (p.Gly561=)
c.*109-124G>T (n.*109-124G>T)
c.897G>T (p.Gly299=)
c.1834G>T
c.*988G>T (n.*988G>T)
n.294G>T
c.1737G>T (p.Gly579=)
c.1533G>T (p.Gly511=)
c.1674G>T (p.Gly558=)
c.1728G>T (p.Gly576=)
c.1524G>T (p.Gly508=)
7g.75985937G>ACA367750457PORc.1459G>A (p.Glu487Lys)
c.1585G>A (p.Glu529Lys)
c.1684G>A (p.Glu562Lys)
c.*109-123G>A (n.*109-123G>A)
c.898G>A (p.Glu300Lys)
c.1835G>A
c.*989G>A (n.*989G>A)
n.295G>A
c.1738G>A (p.Glu580Lys)
c.1534G>A (p.Glu512Lys)
c.1675G>A (p.Glu559Lys)
c.1729G>A (p.Glu577Lys)
c.1525G>A (p.Glu509Lys)
 gnomAD v2 gnomAD v4
7g.75985937G>CCA367750458PORc.1459G>C (p.Glu487Gln)
c.1585G>C (p.Glu529Gln)
c.1684G>C (p.Glu562Gln)
c.*109-123G>C (n.*109-123G>C)
c.898G>C (p.Glu300Gln)
c.1835G>C
c.*989G>C (n.*989G>C)
n.295G>C
c.1738G>C (p.Glu580Gln)
c.1534G>C (p.Glu512Gln)
c.1675G>C (p.Glu559Gln)
c.1729G>C (p.Glu577Gln)
c.1525G>C (p.Glu509Gln)
7g.75985937G=CA1718180434PORc.1459G= (p.Glu487=)
c.1585G= (p.Glu529=)
c.1684G= (p.Glu562=)
c.*109-123G= (n.*109-123G=)
c.898G= (p.Glu300=)
c.1835G=
c.*989G= (n.*989G=)
n.295G=
c.1738G= (p.Glu580=)
c.1534G= (p.Glu512=)
c.1675G= (p.Glu559=)
c.1729G= (p.Glu577=)
c.1525G= (p.Glu509=)
7g.75985937G>TCA367750459PORc.1459G>T (p.Glu487Ter)
c.1585G>T (p.Glu529Ter)
c.1684G>T (p.Glu562Ter)
c.*109-123G>T (n.*109-123G>T)
c.898G>T (p.Glu300Ter)
c.1835G>T
c.*989G>T (n.*989G>T)
n.295G>T
c.1738G>T (p.Glu580Ter)
c.1534G>T (p.Glu512Ter)
c.1675G>T (p.Glu559Ter)
c.1729G>T (p.Glu577Ter)
c.1525G>T (p.Glu509Ter)
 gnomAD v4
7g.75985938A>CCA367750460PORc.1460A>C (p.Glu487Ala)
c.1586A>C (p.Glu529Ala)
c.1685A>C (p.Glu562Ala)
c.*109-122A>C (n.*109-122A>C)
c.899A>C (p.Glu300Ala)
c.1836A>C
c.*990A>C (n.*990A>C)
n.296A>C
c.1739A>C (p.Glu580Ala)
c.1535A>C (p.Glu512Ala)
c.1676A>C (p.Glu559Ala)
c.1730A>C (p.Glu577Ala)
c.1526A>C (p.Glu509Ala)
7g.75985938A>GCA367750462PORc.1460A>G (p.Glu487Gly)
c.1586A>G (p.Glu529Gly)
c.1685A>G (p.Glu562Gly)
c.*109-122A>G (n.*109-122A>G)
c.899A>G (p.Glu300Gly)
c.1836A>G
c.*990A>G (n.*990A>G)
n.296A>G
c.1739A>G (p.Glu580Gly)
c.1535A>G (p.Glu512Gly)
c.1676A>G (p.Glu559Gly)
c.1730A>G (p.Glu577Gly)
c.1526A>G (p.Glu509Gly)
 gnomAD v4
7g.75985938A>TCA367750461PORc.1460A>T (p.Glu487Val)
c.1586A>T (p.Glu529Val)
c.1685A>T (p.Glu562Val)
c.*109-122A>T (n.*109-122A>T)
c.899A>T (p.Glu300Val)
c.1836A>T
c.*990A>T (n.*990A>T)
n.296A>T
c.1739A>T (p.Glu580Val)
c.1535A>T (p.Glu512Val)
c.1676A>T (p.Glu559Val)
c.1730A>T (p.Glu577Val)
c.1526A>T (p.Glu509Val)
7g.75985938_75985941dupCA4304247PORc.1460_1463dup (p.Leu489AspfsTer12)
c.1586_1589dup (p.Leu531AspfsTer12)
c.1685_1688dup (p.Leu564AspfsTer12)
c.*109-122_*109-119dup (n.*109-122_*109-119dup)
c.899_902dup (p.Leu302AspfsTer12)
c.1836_1839dup
c.*990_*993dup (n.*990_*993dup)
n.296_299dup
c.1739_1742dup (p.Leu582AspfsTer12)
c.1535_1538dup (p.Leu514AspfsTer12)
c.1676_1679dup (p.Leu561AspfsTer12)
c.1730_1733dup (p.Leu579AspfsTer12)
c.1526_1529dup (p.Leu511AspfsTer12)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.75985939G>ACA456331348PORc.1461G>A (p.Glu487=)
c.1587G>A (p.Glu529=)
c.1686G>A (p.Glu562=)
c.*109-121G>A (n.*109-121G>A)
c.900G>A (p.Glu300=)
c.1837G>A
c.*991G>A (n.*991G>A)
n.297G>A
c.1740G>A (p.Glu580=)
c.1536G>A (p.Glu512=)
c.1677G>A (p.Glu559=)
c.1731G>A (p.Glu577=)
c.1527G>A (p.Glu509=)
 dbSNP gnomAD v4
7g.75985939G>CCA367750463PORc.1461G>C (p.Glu487Asp)
c.1587G>C (p.Glu529Asp)
c.1686G>C (p.Glu562Asp)
c.*109-121G>C (n.*109-121G>C)
c.900G>C (p.Glu300Asp)
c.1837G>C
c.*991G>C (n.*991G>C)
n.297G>C
c.1740G>C (p.Glu580Asp)
c.1536G>C (p.Glu512Asp)
c.1677G>C (p.Glu559Asp)
c.1731G>C (p.Glu577Asp)
c.1527G>C (p.Glu509Asp)
7g.75985939G=CA1718180435PORc.1461G= (p.Glu487=)
c.1587G= (p.Glu529=)
c.1686G= (p.Glu562=)
c.*109-121G= (n.*109-121G=)
c.900G= (p.Glu300=)
c.1837G=
c.*991G= (n.*991G=)
n.297G=
c.1740G= (p.Glu580=)
c.1536G= (p.Glu512=)
c.1677G= (p.Glu559=)
c.1731G= (p.Glu577=)
c.1527G= (p.Glu509=)
7g.75985939G>TCA367750464PORc.1461G>T (p.Glu487Asp)
c.1587G>T (p.Glu529Asp)
c.1686G>T (p.Glu562Asp)
c.*109-121G>T (n.*109-121G>T)
c.900G>T (p.Glu300Asp)
c.1837G>T
c.*991G>T (n.*991G>T)
n.297G>T
c.1740G>T (p.Glu580Asp)
c.1536G>T (p.Glu512Asp)
c.1677G>T (p.Glu559Asp)
c.1731G>T (p.Glu577Asp)
c.1527G>T (p.Glu509Asp)
 gnomAD v4
7g.75985940A>CCA367750465PORc.1462A>C (p.Thr488Pro)
c.1588A>C (p.Thr530Pro)
c.1687A>C (p.Thr563Pro)
c.*109-120A>C (n.*109-120A>C)
c.901A>C (p.Thr301Pro)
c.1838A>C
c.*992A>C (n.*992A>C)
n.298A>C
c.1741A>C (p.Thr581Pro)
c.1537A>C (p.Thr513Pro)
c.1678A>C (p.Thr560Pro)
c.1732A>C (p.Thr578Pro)
c.1528A>C (p.Thr510Pro)
7g.75985940A>GCA367750466PORc.1462A>G (p.Thr488Ala)
c.1588A>G (p.Thr530Ala)
c.1687A>G (p.Thr563Ala)
c.*109-120A>G (n.*109-120A>G)
c.901A>G (p.Thr301Ala)
c.1838A>G
c.*992A>G (n.*992A>G)
n.298A>G
c.1741A>G (p.Thr581Ala)
c.1537A>G (p.Thr513Ala)
c.1678A>G (p.Thr560Ala)
c.1732A>G (p.Thr578Ala)
c.1528A>G (p.Thr510Ala)
 gnomAD v4
7g.75985940A>TCA367750467PORc.1462A>T (p.Thr488Ser)
c.1588A>T (p.Thr530Ser)
c.1687A>T (p.Thr563Ser)
c.*109-120A>T (n.*109-120A>T)
c.901A>T (p.Thr301Ser)
c.1838A>T
c.*992A>T (n.*992A>T)
n.298A>T
c.1741A>T (p.Thr581Ser)
c.1537A>T (p.Thr513Ser)
c.1678A>T (p.Thr560Ser)
c.1732A>T (p.Thr578Ser)
c.1528A>T (p.Thr510Ser)
7g.75985941C>ACA367750468PORc.1463C>A (p.Thr488Lys)
c.1589C>A (p.Thr530Lys)
c.1688C>A (p.Thr563Lys)
c.*109-119C>A (n.*109-119C>A)
c.902C>A (p.Thr301Lys)
c.1839C>A
c.*993C>A (n.*993C>A)
n.299C>A
c.1742C>A (p.Thr581Lys)
c.1538C>A (p.Thr513Lys)
c.1679C>A (p.Thr560Lys)
c.1733C>A (p.Thr578Lys)
c.1529C>A (p.Thr510Lys)
 gnomAD v4
7g.75985941C=CA1718180436PORc.1463C= (p.Thr488=)
c.1589C= (p.Thr530=)
c.1688C= (p.Thr563=)
c.*109-119C= (n.*109-119C=)
c.902C= (p.Thr301=)
c.1839C=
c.*993C= (n.*993C=)
n.299C=
c.1742C= (p.Thr581=)
c.1538C= (p.Thr513=)
c.1679C= (p.Thr560=)
c.1733C= (p.Thr578=)
c.1529C= (p.Thr510=)
7g.75985941C>GCA367750469PORc.1463C>G (p.Thr488Arg)
c.1589C>G (p.Thr530Arg)
c.1688C>G (p.Thr563Arg)
c.*109-119C>G (n.*109-119C>G)
c.902C>G (p.Thr301Arg)
c.1839C>G
c.*993C>G (n.*993C>G)
n.299C>G
c.1742C>G (p.Thr581Arg)
c.1538C>G (p.Thr513Arg)
c.1679C>G (p.Thr560Arg)
c.1733C>G (p.Thr578Arg)
c.1529C>G (p.Thr510Arg)
7g.75985941C>TCA4304248PORc.1463C>T (p.Thr488Met)
c.1589C>T (p.Thr530Met)
c.1688C>T (p.Thr563Met)
c.*109-119C>T (n.*109-119C>T)
c.902C>T (p.Thr301Met)
c.1839C>T
c.*993C>T (n.*993C>T)
n.299C>T
c.1742C>T (p.Thr581Met)
c.1538C>T (p.Thr513Met)
c.1679C>T (p.Thr560Met)
c.1733C>T (p.Thr578Met)
c.1529C>T (p.Thr510Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985942G>ACA4304249PORc.1464G>A (p.Thr488=)
c.1590G>A (p.Thr530=)
c.1689G>A (p.Thr563=)
c.*109-118G>A (n.*109-118G>A)
c.903G>A (p.Thr301=)
c.1840G>A
c.*994G>A (n.*994G>A)
n.300G>A
c.1743G>A (p.Thr581=)
c.1539G>A (p.Thr513=)
c.1680G>A (p.Thr560=)
c.1734G>A (p.Thr578=)
c.1530G>A (p.Thr510=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985942G>CCA456331350PORc.1464G>C (p.Thr488=)
c.1590G>C (p.Thr530=)
c.1689G>C (p.Thr563=)
c.*109-118G>C (n.*109-118G>C)
c.903G>C (p.Thr301=)
c.1840G>C
c.*994G>C (n.*994G>C)
n.300G>C
c.1743G>C (p.Thr581=)
c.1539G>C (p.Thr513=)
c.1680G>C (p.Thr560=)
c.1734G>C (p.Thr578=)
c.1530G>C (p.Thr510=)
7g.75985942G=CA1718180437PORc.1464G= (p.Thr488=)
c.1590G= (p.Thr530=)
c.1689G= (p.Thr563=)
c.*109-118G= (n.*109-118G=)
c.903G= (p.Thr301=)
c.1840G=
c.*994G= (n.*994G=)
n.300G=
c.1743G= (p.Thr581=)
c.1539G= (p.Thr513=)
c.1680G= (p.Thr560=)
c.1734G= (p.Thr578=)
c.1530G= (p.Thr510=)
7g.75985942G>TCA456331351PORc.1464G>T (p.Thr488=)
c.1590G>T (p.Thr530=)
c.1689G>T (p.Thr563=)
c.*109-118G>T (n.*109-118G>T)
c.903G>T (p.Thr301=)
c.1840G>T
c.*994G>T (n.*994G>T)
n.300G>T
c.1743G>T (p.Thr581=)
c.1539G>T (p.Thr513=)
c.1680G>T (p.Thr560=)
c.1734G>T (p.Thr578=)
c.1530G>T (p.Thr510=)
 gnomAD v4
7g.75985943C>ACA367750470PORc.1465C>A (p.Leu489Met)
c.1591C>A (p.Leu531Met)
c.1690C>A (p.Leu564Met)
c.*109-117C>A (n.*109-117C>A)
c.904C>A (p.Leu302Met)
c.1841C>A
c.*995C>A (n.*995C>A)
n.301C>A
c.1744C>A (p.Leu582Met)
c.1540C>A (p.Leu514Met)
c.1681C>A (p.Leu561Met)
c.1735C>A (p.Leu579Met)
c.1531C>A (p.Leu511Met)
 gnomAD v4
7g.75985943C>GCA367750471PORc.1465C>G (p.Leu489Val)
c.1591C>G (p.Leu531Val)
c.1690C>G (p.Leu564Val)
c.*109-117C>G (n.*109-117C>G)
c.904C>G (p.Leu302Val)
c.1841C>G
c.*995C>G (n.*995C>G)
n.301C>G
c.1744C>G (p.Leu582Val)
c.1540C>G (p.Leu514Val)
c.1681C>G (p.Leu561Val)
c.1735C>G (p.Leu579Val)
c.1531C>G (p.Leu511Val)
 gnomAD v4
7g.75985943C>TCA456331352PORc.1465C>T (p.Leu489=)
c.1591C>T (p.Leu531=)
c.1690C>T (p.Leu564=)
c.*109-117C>T (n.*109-117C>T)
c.904C>T (p.Leu302=)
c.1841C>T
c.*995C>T (n.*995C>T)
n.301C>T
c.1744C>T (p.Leu582=)
c.1540C>T (p.Leu514=)
c.1681C>T (p.Leu561=)
c.1735C>T (p.Leu579=)
c.1531C>T (p.Leu511=)
7g.75985944T>ACA367750472PORc.1466T>A (p.Leu489Gln)
c.1592T>A (p.Leu531Gln)
c.1691T>A (p.Leu564Gln)
c.*109-116T>A (n.*109-116T>A)
c.905T>A (p.Leu302Gln)
c.1842T>A
c.*996T>A (n.*996T>A)
n.302T>A
c.1745T>A (p.Leu582Gln)
c.1541T>A (p.Leu514Gln)
c.1682T>A (p.Leu561Gln)
c.1736T>A (p.Leu579Gln)
c.1532T>A (p.Leu511Gln)
 gnomAD v4
7g.75985944T>CCA367750474PORc.1466T>C (p.Leu489Pro)
c.1592T>C (p.Leu531Pro)
c.1691T>C (p.Leu564Pro)
c.*109-116T>C (n.*109-116T>C)
c.905T>C (p.Leu302Pro)
c.1842T>C
c.*996T>C (n.*996T>C)
n.302T>C
c.1745T>C (p.Leu582Pro)
c.1541T>C (p.Leu514Pro)
c.1682T>C (p.Leu561Pro)
c.1736T>C (p.Leu579Pro)
c.1532T>C (p.Leu511Pro)
 gnomAD v4
7g.75985944T>GCA367750473PORc.1466T>G (p.Leu489Arg)
c.1592T>G (p.Leu531Arg)
c.1691T>G (p.Leu564Arg)
c.*109-116T>G (n.*109-116T>G)
c.905T>G (p.Leu302Arg)
c.1842T>G
c.*996T>G (n.*996T>G)
n.302T>G
c.1745T>G (p.Leu582Arg)
c.1541T>G (p.Leu514Arg)
c.1682T>G (p.Leu561Arg)
c.1736T>G (p.Leu579Arg)
c.1532T>G (p.Leu511Arg)
7g.75985945G>ACA456331353PORc.1467G>A (p.Leu489=)
c.1593G>A (p.Leu531=)
c.1692G>A (p.Leu564=)
c.*109-115G>A (n.*109-115G>A)
c.906G>A (p.Leu302=)
c.1843G>A
c.*997G>A (n.*997G>A)
n.303G>A
c.1746G>A (p.Leu582=)
c.1542G>A (p.Leu514=)
c.1683G>A (p.Leu561=)
c.1737G>A (p.Leu579=)
c.1533G>A (p.Leu511=)
 gnomAD v4
7g.75985945G>CCA456331354PORc.1467G>C (p.Leu489=)
c.1593G>C (p.Leu531=)
c.1692G>C (p.Leu564=)
c.*109-115G>C (n.*109-115G>C)
c.906G>C (p.Leu302=)
c.1843G>C
c.*997G>C (n.*997G>C)
n.303G>C
c.1746G>C (p.Leu582=)
c.1542G>C (p.Leu514=)
c.1683G>C (p.Leu561=)
c.1737G>C (p.Leu579=)
c.1533G>C (p.Leu511=)
7g.75985945G>TCA456331355PORc.1467G>T (p.Leu489=)
c.1593G>T (p.Leu531=)
c.1692G>T (p.Leu564=)
c.*109-115G>T (n.*109-115G>T)
c.906G>T (p.Leu302=)
c.1843G>T
c.*997G>T (n.*997G>T)
n.303G>T
c.1746G>T (p.Leu582=)
c.1542G>T (p.Leu514=)
c.1683G>T (p.Leu561=)
c.1737G>T (p.Leu579=)
c.1533G>T (p.Leu511=)
 gnomAD v4
7g.75985946C>ACA367750475PORc.1468C>A (p.Leu490Met)
c.1594C>A (p.Leu532Met)
c.1693C>A (p.Leu565Met)
c.*109-114C>A (n.*109-114C>A)
c.907C>A (p.Leu303Met)
c.1844C>A
c.*998C>A (n.*998C>A)
n.304C>A
c.1747C>A (p.Leu583Met)
c.1543C>A (p.Leu515Met)
c.1684C>A (p.Leu562Met)
c.1738C>A (p.Leu580Met)
c.1534C>A (p.Leu512Met)
 gnomAD v4
7g.75985946C>GCA367750476PORc.1468C>G (p.Leu490Val)
c.1594C>G (p.Leu532Val)
c.1693C>G (p.Leu565Val)
c.*109-114C>G (n.*109-114C>G)
c.907C>G (p.Leu303Val)
c.1844C>G
c.*998C>G (n.*998C>G)
n.304C>G
c.1747C>G (p.Leu583Val)
c.1543C>G (p.Leu515Val)
c.1684C>G (p.Leu562Val)
c.1738C>G (p.Leu580Val)
c.1534C>G (p.Leu512Val)
7g.75985946C>TCA456331357PORc.1468C>T (p.Leu490=)
c.1594C>T (p.Leu532=)
c.1693C>T (p.Leu565=)
c.*109-114C>T (n.*109-114C>T)
c.907C>T (p.Leu303=)
c.1844C>T
c.*998C>T (n.*998C>T)
n.304C>T
c.1747C>T (p.Leu583=)
c.1543C>T (p.Leu515=)
c.1684C>T (p.Leu562=)
c.1738C>T (p.Leu580=)
c.1534C>T (p.Leu512=)
 dbSNP gnomAD v4
7g.75985947T>ACA367750477PORc.1469T>A (p.Leu490Gln)
c.1595T>A (p.Leu532Gln)
c.1694T>A (p.Leu565Gln)
c.*109-113T>A (n.*109-113T>A)
c.908T>A (p.Leu303Gln)
c.1845T>A
c.*999T>A (n.*999T>A)
n.305T>A
c.1748T>A (p.Leu583Gln)
c.1544T>A (p.Leu515Gln)
c.1685T>A (p.Leu562Gln)
c.1739T>A (p.Leu580Gln)
c.1535T>A (p.Leu512Gln)
7g.75985947T>CCA367750478PORc.1469T>C (p.Leu490Pro)
c.1595T>C (p.Leu532Pro)
c.1694T>C (p.Leu565Pro)
c.*109-113T>C (n.*109-113T>C)
c.908T>C (p.Leu303Pro)
c.1845T>C
c.*999T>C (n.*999T>C)
n.305T>C
c.1748T>C (p.Leu583Pro)
c.1544T>C (p.Leu515Pro)
c.1685T>C (p.Leu562Pro)
c.1739T>C (p.Leu580Pro)
c.1535T>C (p.Leu512Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75985947T>GCA367750479PORc.1469T>G (p.Leu490Arg)
c.1595T>G (p.Leu532Arg)
c.1694T>G (p.Leu565Arg)
c.*109-113T>G (n.*109-113T>G)
c.908T>G (p.Leu303Arg)
c.1845T>G
c.*999T>G (n.*999T>G)
n.305T>G
c.1748T>G (p.Leu583Arg)
c.1544T>G (p.Leu515Arg)
c.1685T>G (p.Leu562Arg)
c.1739T>G (p.Leu580Arg)
c.1535T>G (p.Leu512Arg)
7g.75985947T=CA1718180438PORc.1469T= (p.Leu490=)
c.1595T= (p.Leu532=)
c.1694T= (p.Leu565=)
c.*109-113T= (n.*109-113T=)
c.908T= (p.Leu303=)
c.1845T=
c.*999T= (n.*999T=)
n.305T=
c.1748T= (p.Leu583=)
c.1544T= (p.Leu515=)
c.1685T= (p.Leu562=)
c.1739T= (p.Leu580=)
c.1535T= (p.Leu512=)
7g.75985948G>ACA456331358PORc.1470G>A (p.Leu490=)
c.1596G>A (p.Leu532=)
c.1695G>A (p.Leu565=)
c.*109-112G>A (n.*109-112G>A)
c.909G>A (p.Leu303=)
c.1846G>A
c.*1000G>A (n.*1000G>A)
n.306G>A
c.1749G>A (p.Leu583=)
c.1545G>A (p.Leu515=)
c.1686G>A (p.Leu562=)
c.1740G>A (p.Leu580=)
c.1536G>A (p.Leu512=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75985948G>CCA4304250PORc.1470G>C (p.Leu490=)
c.1596G>C (p.Leu532=)
c.1695G>C (p.Leu565=)
c.*109-112G>C (n.*109-112G>C)
c.909G>C (p.Leu303=)
c.1846G>C
c.*1000G>C (n.*1000G>C)
n.306G>C
c.1749G>C (p.Leu583=)
c.1545G>C (p.Leu515=)
c.1686G>C (p.Leu562=)
c.1740G>C (p.Leu580=)
c.1536G>C (p.Leu512=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.75985948G=CA1718180439PORc.1470G= (p.Leu490=)
c.1596G= (p.Leu532=)
c.1695G= (p.Leu565=)
c.*109-112G= (n.*109-112G=)
c.909G= (p.Leu303=)
c.1846G=
c.*1000G= (n.*1000G=)
n.306G=
c.1749G= (p.Leu583=)
c.1545G= (p.Leu515=)
c.1686G= (p.Leu562=)
c.1740G= (p.Leu580=)
c.1536G= (p.Leu512=)
7g.75985948G>TCA456331359PORc.1470G>T (p.Leu490=)
c.1596G>T (p.Leu532=)
c.1695G>T (p.Leu565=)
c.*109-112G>T (n.*109-112G>T)
c.909G>T (p.Leu303=)
c.1846G>T
c.*1000G>T (n.*1000G>T)
n.306G>T
c.1749G>T (p.Leu583=)
c.1545G>T (p.Leu515=)
c.1686G>T (p.Leu562=)
c.1740G>T (p.Leu580=)
c.1536G>T (p.Leu512=)
7g.75985949T>ACA367750480PORc.1471T>A (p.Tyr491Asn)
c.1597T>A (p.Tyr533Asn)
c.1696T>A (p.Tyr566Asn)
c.*109-111T>A (n.*109-111T>A)
c.910T>A (p.Tyr304Asn)
c.1847T>A
c.*1001T>A (n.*1001T>A)
n.307T>A
c.1750T>A (p.Tyr584Asn)
c.1546T>A (p.Tyr516Asn)
c.1687T>A (p.Tyr563Asn)
c.1741T>A (p.Tyr581Asn)
c.1537T>A (p.Tyr513Asn)
7g.75985949T>CCA367750481PORc.1471T>C (p.Tyr491His)
c.1597T>C (p.Tyr533His)
c.1696T>C (p.Tyr566His)
c.*109-111T>C (n.*109-111T>C)
c.910T>C (p.Tyr304His)
c.1847T>C
c.*1001T>C (n.*1001T>C)
n.307T>C
c.1750T>C (p.Tyr584His)
c.1546T>C (p.Tyr516His)
c.1687T>C (p.Tyr563His)
c.1741T>C (p.Tyr581His)
c.1537T>C (p.Tyr513His)
7g.75985949T>GCA367750482PORc.1471T>G (p.Tyr491Asp)
c.1597T>G (p.Tyr533Asp)
c.1696T>G (p.Tyr566Asp)
c.*109-111T>G (n.*109-111T>G)
c.910T>G (p.Tyr304Asp)
c.1847T>G
c.*1001T>G (n.*1001T>G)
n.307T>G
c.1750T>G (p.Tyr584Asp)
c.1546T>G (p.Tyr516Asp)
c.1687T>G (p.Tyr563Asp)
c.1741T>G (p.Tyr581Asp)
c.1537T>G (p.Tyr513Asp)
7g.75985950A>CCA367750483PORc.1472A>C (p.Tyr491Ser)
c.1598A>C (p.Tyr533Ser)
c.1697A>C (p.Tyr566Ser)
c.*109-110A>C (n.*109-110A>C)
c.911A>C (p.Tyr304Ser)
c.1848A>C
c.*1002A>C (n.*1002A>C)
n.308A>C
c.1751A>C (p.Tyr584Ser)
c.1547A>C (p.Tyr516Ser)
c.1688A>C (p.Tyr563Ser)
c.1742A>C (p.Tyr581Ser)
c.1538A>C (p.Tyr513Ser)
7g.75985950A>GCA367750484PORc.1472A>G (p.Tyr491Cys)
c.1598A>G (p.Tyr533Cys)
c.1697A>G (p.Tyr566Cys)
c.*109-110A>G (n.*109-110A>G)
c.911A>G (p.Tyr304Cys)
c.1848A>G
c.*1002A>G (n.*1002A>G)
n.308A>G
c.1751A>G (p.Tyr584Cys)
c.1547A>G (p.Tyr516Cys)
c.1688A>G (p.Tyr563Cys)
c.1742A>G (p.Tyr581Cys)
c.1538A>G (p.Tyr513Cys)
 gnomAD v4
7g.75985950A>TCA367750485PORc.1472A>T (p.Tyr491Phe)
c.1598A>T (p.Tyr533Phe)
c.1697A>T (p.Tyr566Phe)
c.*109-110A>T (n.*109-110A>T)
c.911A>T (p.Tyr304Phe)
c.1848A>T
c.*1002A>T (n.*1002A>T)
n.308A>T
c.1751A>T (p.Tyr584Phe)
c.1547A>T (p.Tyr516Phe)
c.1688A>T (p.Tyr563Phe)
c.1742A>T (p.Tyr581Phe)
c.1538A>T (p.Tyr513Phe)
7g.75985951C>ACA367750487PORc.1473C>A (p.Tyr491Ter)
c.1599C>A (p.Tyr533Ter)
c.1698C>A (p.Tyr566Ter)
c.*109-109C>A (n.*109-109C>A)
c.912C>A (p.Tyr304Ter)
c.1849C>A
c.*1003C>A (n.*1003C>A)
n.309C>A
c.1752C>A (p.Tyr584Ter)
c.1548C>A (p.Tyr516Ter)
c.1689C>A (p.Tyr563Ter)
c.1743C>A (p.Tyr581Ter)
c.1539C>A (p.Tyr513Ter)
 gnomAD v4
7g.75985951C=CA1718180440PORc.1473C= (p.Tyr491=)
c.1599C= (p.Tyr533=)
c.1698C= (p.Tyr566=)
c.*109-109C= (n.*109-109C=)
c.912C= (p.Tyr304=)
c.1849C=
c.*1003C= (n.*1003C=)
n.309C=
c.1752C= (p.Tyr584=)
c.1548C= (p.Tyr516=)
c.1689C= (p.Tyr563=)
c.1743C= (p.Tyr581=)
c.1539C= (p.Tyr513=)
7g.75985951C>GCA367750486PORc.1473C>G (p.Tyr491Ter)
c.1599C>G (p.Tyr533Ter)
c.1698C>G (p.Tyr566Ter)
c.*109-109C>G (n.*109-109C>G)
c.912C>G (p.Tyr304Ter)
c.1849C>G
c.*1003C>G (n.*1003C>G)
n.309C>G
c.1752C>G (p.Tyr584Ter)
c.1548C>G (p.Tyr516Ter)
c.1689C>G (p.Tyr563Ter)
c.1743C>G (p.Tyr581Ter)
c.1539C>G (p.Tyr513Ter)
7g.75985951C>TCA4304251PORc.1473C>T (p.Tyr491=)
c.1599C>T (p.Tyr533=)
c.1698C>T (p.Tyr566=)
c.*109-109C>T (n.*109-109C>T)
c.912C>T (p.Tyr304=)
c.1849C>T
c.*1003C>T (n.*1003C>T)
n.309C>T
c.1752C>T (p.Tyr584=)
c.1548C>T (p.Tyr516=)
c.1689C>T (p.Tyr563=)
c.1743C>T (p.Tyr581=)
c.1539C>T (p.Tyr513=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.75985951dupCA2695207853PORc.1473dup (p.Tyr492LeufsTer8)
c.1599dup (p.Tyr534LeufsTer8)
c.1698dup (p.Tyr567LeufsTer8)
c.*109-109dup (n.*109-109dup)
c.912dup (p.Tyr305LeufsTer8)
c.1849dup
c.*1003dup (n.*1003dup)
n.309dup
c.1752dup (p.Tyr585LeufsTer8)
c.1548dup (p.Tyr517LeufsTer8)
c.1689dup (p.Tyr564LeufsTer8)
c.1743dup (p.Tyr582LeufsTer8)
c.1539dup (p.Tyr514LeufsTer8)
7g.75985952T>ACA367750488PORc.1474T>A (p.Tyr492Asn)
c.1600T>A (p.Tyr534Asn)
c.1699T>A (p.Tyr567Asn)
c.*109-108T>A (n.*109-108T>A)
c.913T>A (p.Tyr305Asn)
c.1850T>A
c.*1004T>A (n.*1004T>A)
n.310T>A
c.1753T>A (p.Tyr585Asn)
c.1549T>A (p.Tyr517Asn)
c.1690T>A (p.Tyr564Asn)
c.1744T>A (p.Tyr582Asn)
c.1540T>A (p.Tyr514Asn)
 gnomAD v4
7g.75985952T>CCA367750489PORc.1474T>C (p.Tyr492His)
c.1600T>C (p.Tyr534His)
c.1699T>C (p.Tyr567His)
c.*109-108T>C (n.*109-108T>C)
c.913T>C (p.Tyr305His)
c.1850T>C
c.*1004T>C (n.*1004T>C)
n.310T>C
c.1753T>C (p.Tyr585His)
c.1549T>C (p.Tyr517His)
c.1690T>C (p.Tyr564His)
c.1744T>C (p.Tyr582His)
c.1540T>C (p.Tyr514His)
 gnomAD v4
7g.75985952T>GCA367750490PORc.1474T>G (p.Tyr492Asp)
c.1600T>G (p.Tyr534Asp)
c.1699T>G (p.Tyr567Asp)
c.*109-108T>G (n.*109-108T>G)
c.913T>G (p.Tyr305Asp)
c.1850T>G
c.*1004T>G (n.*1004T>G)
n.310T>G
c.1753T>G (p.Tyr585Asp)
c.1549T>G (p.Tyr517Asp)
c.1690T>G (p.Tyr564Asp)
c.1744T>G (p.Tyr582Asp)
c.1540T>G (p.Tyr514Asp)
7g.75985952_75985953dupCA2740097376PORc.1474_1475dup (p.Gly493ThrfsTer?)
c.1600_1601dup (p.Gly535ThrfsTer?)
c.1699_1700dup (p.Gly568ThrfsTer?)
c.*109-108_*109-107dup (n.*109-108_*109-107dup)
c.913_914dup (p.Gly306ThrfsTer?)
c.1850_1851dup
c.*1004_*1005dup (n.*1004_*1005dup)
n.310_311dup
c.1753_1754dup (p.Gly586ThrfsTer?)
c.1549_1550dup (p.Gly518ThrfsTer?)
c.1690_1691dup (p.Gly565ThrfsTer?)
c.1744_1745dup (p.Gly583ThrfsTer?)
c.1540_1541dup (p.Gly515ThrfsTer?)
 ClinVar
7g.75985953A=CA1718180441PORc.1475A= (p.Tyr492=)
c.1601A= (p.Tyr534=)
c.1700A= (p.Tyr567=)
c.*109-107A= (n.*109-107A=)
c.914A= (p.Tyr305=)
c.1851A=
c.*1005A= (n.*1005A=)
n.311A=
c.1754A= (p.Tyr585=)
c.1550A= (p.Tyr517=)
c.1691A= (p.Tyr564=)
c.1745A= (p.Tyr582=)
c.1541A= (p.Tyr514=)
7g.75985953A>CCA367750491PORc.1475A>C (p.Tyr492Ser)
c.1601A>C (p.Tyr534Ser)
c.1700A>C (p.Tyr567Ser)
c.*109-107A>C (n.*109-107A>C)
c.914A>C (p.Tyr305Ser)
c.1851A>C
c.*1005A>C (n.*1005A>C)
n.311A>C
c.1754A>C (p.Tyr585Ser)
c.1550A>C (p.Tyr517Ser)
c.1691A>C (p.Tyr564Ser)
c.1745A>C (p.Tyr582Ser)
c.1541A>C (p.Tyr514Ser)
7g.75985953A>GCA367750492PORc.1475A>G (p.Tyr492Cys)
c.1601A>G (p.Tyr534Cys)
c.1700A>G (p.Tyr567Cys)
c.*109-107A>G (n.*109-107A>G)
c.914A>G (p.Tyr305Cys)
c.1851A>G
c.*1005A>G (n.*1005A>G)
n.311A>G
c.1754A>G (p.Tyr585Cys)
c.1550A>G (p.Tyr517Cys)
c.1691A>G (p.Tyr564Cys)
c.1745A>G (p.Tyr582Cys)
c.1541A>G (p.Tyr514Cys)
 dbSNP gnomAD v2 gnomAD v4
7g.75985953A>TCA367750493PORc.1475A>T (p.Tyr492Phe)
c.1601A>T (p.Tyr534Phe)
c.1700A>T (p.Tyr567Phe)
c.*109-107A>T (n.*109-107A>T)
c.914A>T (p.Tyr305Phe)
c.1851A>T
c.*1005A>T (n.*1005A>T)
n.311A>T
c.1754A>T (p.Tyr585Phe)
c.1550A>T (p.Tyr517Phe)
c.1691A>T (p.Tyr564Phe)
c.1745A>T (p.Tyr582Phe)
c.1541A>T (p.Tyr514Phe)
 gnomAD v4
7g.75985954C>ACA367750494PORc.1476C>A (p.Tyr492Ter)
c.1602C>A (p.Tyr534Ter)
c.1701C>A (p.Tyr567Ter)
c.*109-106C>A (n.*109-106C>A)
c.915C>A (p.Tyr305Ter)
c.1852C>A
c.*1006C>A (n.*1006C>A)
n.312C>A
c.1755C>A (p.Tyr585Ter)
c.1551C>A (p.Tyr517Ter)
c.1692C>A (p.Tyr564Ter)
c.1746C>A (p.Tyr582Ter)
c.1542C>A (p.Tyr514Ter)
 gnomAD v4
7g.75985954C=CA1718180442PORc.1476C= (p.Tyr492=)
c.1602C= (p.Tyr534=)
c.1701C= (p.Tyr567=)
c.*109-106C= (n.*109-106C=)
c.915C= (p.Tyr305=)
c.1852C=
c.*1006C= (n.*1006C=)
n.312C=
c.1755C= (p.Tyr585=)
c.1551C= (p.Tyr517=)
c.1692C= (p.Tyr564=)
c.1746C= (p.Tyr582=)
c.1542C= (p.Tyr514=)
7g.75985954C>GCA367750495PORc.1476C>G (p.Tyr492Ter)
c.1602C>G (p.Tyr534Ter)
c.1701C>G (p.Tyr567Ter)
c.*109-106C>G (n.*109-106C>G)
c.915C>G (p.Tyr305Ter)
c.1852C>G
c.*1006C>G (n.*1006C>G)
n.312C>G
c.1755C>G (p.Tyr585Ter)
c.1551C>G (p.Tyr517Ter)
c.1692C>G (p.Tyr564Ter)
c.1746C>G (p.Tyr582Ter)
c.1542C>G (p.Tyr514Ter)
7g.75985954C>TCA4304252PORc.1476C>T (p.Tyr492=)
c.1602C>T (p.Tyr534=)
c.1701C>T (p.Tyr567=)
c.*109-106C>T (n.*109-106C>T)
c.915C>T (p.Tyr305=)
c.1852C>T
c.*1006C>T (n.*1006C>T)
n.312C>T
c.1755C>T (p.Tyr585=)
c.1551C>T (p.Tyr517=)
c.1692C>T (p.Tyr564=)
c.1746C>T (p.Tyr582=)
c.1542C>T (p.Tyr514=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.75985955G>ACA4304253PORc.1477G>A (p.Gly493Ser)
c.1603G>A (p.Gly535Ser)
c.1702G>A (p.Gly568Ser)
c.*109-105G>A (n.*109-105G>A)
c.916G>A (p.Gly306Ser)
c.1853G>A
c.*1007G>A (n.*1007G>A)
n.313G>A
c.1756G>A (p.Gly586Ser)
c.1552G>A (p.Gly518Ser)
c.1693G>A (p.Gly565Ser)
c.1747G>A (p.Gly583Ser)
c.1543G>A (p.Gly515Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985955G>CCA367750496PORc.1477G>C (p.Gly493Arg)
c.1603G>C (p.Gly535Arg)
c.1702G>C (p.Gly568Arg)
c.*109-105G>C (n.*109-105G>C)
c.916G>C (p.Gly306Arg)
c.1853G>C
c.*1007G>C (n.*1007G>C)
n.313G>C
c.1756G>C (p.Gly586Arg)
c.1552G>C (p.Gly518Arg)
c.1693G>C (p.Gly565Arg)
c.1747G>C (p.Gly583Arg)
c.1543G>C (p.Gly515Arg)
7g.75985955G=CA1718180443PORc.1477G= (p.Gly493=)
c.1603G= (p.Gly535=)
c.1702G= (p.Gly568=)
c.*109-105G= (n.*109-105G=)
c.916G= (p.Gly306=)
c.1853G=
c.*1007G= (n.*1007G=)
n.313G=
c.1756G= (p.Gly586=)
c.1552G= (p.Gly518=)
c.1693G= (p.Gly565=)
c.1747G= (p.Gly583=)
c.1543G= (p.Gly515=)
7g.75985955G>TCA367750497PORc.1477G>T (p.Gly493Cys)
c.1603G>T (p.Gly535Cys)
c.1702G>T (p.Gly568Cys)
c.*109-105G>T (n.*109-105G>T)
c.916G>T (p.Gly306Cys)
c.1853G>T
c.*1007G>T (n.*1007G>T)
n.313G>T
c.1756G>T (p.Gly586Cys)
c.1552G>T (p.Gly518Cys)
c.1693G>T (p.Gly565Cys)
c.1747G>T (p.Gly583Cys)
c.1543G>T (p.Gly515Cys)
 gnomAD v4
7g.75985956G>ACA367750500PORc.1478G>A (p.Gly493Asp)
c.1604G>A (p.Gly535Asp)
c.1703G>A (p.Gly568Asp)
c.*109-104G>A (n.*109-104G>A)
c.917G>A (p.Gly306Asp)
c.1854G>A
c.*1008G>A (n.*1008G>A)
n.314G>A
c.1757G>A (p.Gly586Asp)
c.1553G>A (p.Gly518Asp)
c.1694G>A (p.Gly565Asp)
c.1748G>A (p.Gly583Asp)
c.1544G>A (p.Gly515Asp)
 gnomAD v4
7g.75985956G>CCA367750499PORc.1478G>C (p.Gly493Ala)
c.1604G>C (p.Gly535Ala)
c.1703G>C (p.Gly568Ala)
c.*109-104G>C (n.*109-104G>C)
c.917G>C (p.Gly306Ala)
c.1854G>C
c.*1008G>C (n.*1008G>C)
n.314G>C
c.1757G>C (p.Gly586Ala)
c.1553G>C (p.Gly518Ala)
c.1694G>C (p.Gly565Ala)
c.1748G>C (p.Gly583Ala)
c.1544G>C (p.Gly515Ala)
7g.75985956G>TCA367750498PORc.1478G>T (p.Gly493Val)
c.1604G>T (p.Gly535Val)
c.1703G>T (p.Gly568Val)
c.*109-104G>T (n.*109-104G>T)
c.917G>T (p.Gly306Val)
c.1854G>T
c.*1008G>T (n.*1008G>T)
n.314G>T
c.1757G>T (p.Gly586Val)
c.1553G>T (p.Gly518Val)
c.1694G>T (p.Gly565Val)
c.1748G>T (p.Gly583Val)
c.1544G>T (p.Gly515Val)
 gnomAD v4
7g.75985958_75985960delCA913127821PORc.1480_1482del (p.Cys494del)
c.1606_1608del (p.Cys536del)
c.1705_1707del (p.Cys569del)
c.*109-102_*109-100del (n.*109-102_*109-100del)
c.919_921del (p.Cys307del)
c.1856_1858del
c.*1010_*1012del (n.*1010_*1012del)
n.316_318del
c.1759_1761del (p.Cys587del)
c.1555_1557del (p.Cys519del)
c.1696_1698del (p.Cys566del)
c.1750_1752del (p.Cys584del)
c.1546_1548del (p.Cys516del)
7g.75985957C>ACA456331361PORc.1479C>A (p.Gly493=)
c.1605C>A (p.Gly535=)
c.1704C>A (p.Gly568=)
c.*109-103C>A (n.*109-103C>A)
c.918C>A (p.Gly306=)
c.1855C>A
c.*1009C>A (n.*1009C>A)
n.315C>A
c.1758C>A (p.Gly586=)
c.1554C>A (p.Gly518=)
c.1695C>A (p.Gly565=)
c.1749C>A (p.Gly583=)
c.1545C>A (p.Gly515=)
 gnomAD v4
7g.75985957C=CA1718180444PORc.1479C= (p.Gly493=)
c.1605C= (p.Gly535=)
c.1704C= (p.Gly568=)
c.*109-103C= (n.*109-103C=)
c.918C= (p.Gly306=)
c.1855C=
c.*1009C= (n.*1009C=)
n.315C=
c.1758C= (p.Gly586=)
c.1554C= (p.Gly518=)
c.1695C= (p.Gly565=)
c.1749C= (p.Gly583=)
c.1545C= (p.Gly515=)
7g.75985957C>GCA456331362PORc.1479C>G (p.Gly493=)
c.1605C>G (p.Gly535=)
c.1704C>G (p.Gly568=)
c.*109-103C>G (n.*109-103C>G)
c.918C>G (p.Gly306=)
c.1855C>G
c.*1009C>G (n.*1009C>G)
n.315C>G
c.1758C>G (p.Gly586=)
c.1554C>G (p.Gly518=)
c.1695C>G (p.Gly565=)
c.1749C>G (p.Gly583=)
c.1545C>G (p.Gly515=)
 dbSNP
7g.75985957C>TCA456331363PORc.1479C>T (p.Gly493=)
c.1605C>T (p.Gly535=)
c.1704C>T (p.Gly568=)
c.*109-103C>T (n.*109-103C>T)
c.918C>T (p.Gly306=)
c.1855C>T
c.*1009C>T (n.*1009C>T)
n.315C>T
c.1758C>T (p.Gly586=)
c.1554C>T (p.Gly518=)
c.1695C>T (p.Gly565=)
c.1749C>T (p.Gly583=)
c.1545C>T (p.Gly515=)
 gnomAD v4
7g.75985958T>ACA367750503PORc.1480T>A (p.Cys494Ser)
c.1606T>A (p.Cys536Ser)
c.1705T>A (p.Cys569Ser)
c.*109-102T>A (n.*109-102T>A)
c.919T>A (p.Cys307Ser)
c.1856T>A
c.*1010T>A (n.*1010T>A)
n.316T>A
c.1759T>A (p.Cys587Ser)
c.1555T>A (p.Cys519Ser)
c.1696T>A (p.Cys566Ser)
c.1750T>A (p.Cys584Ser)
c.1546T>A (p.Cys516Ser)
7g.75985958T>CCA367750501PORc.1480T>C (p.Cys494Arg)
c.1606T>C (p.Cys536Arg)
c.1705T>C (p.Cys569Arg)
c.*109-102T>C (n.*109-102T>C)
c.919T>C (p.Cys307Arg)
c.1856T>C
c.*1010T>C (n.*1010T>C)
n.316T>C
c.1759T>C (p.Cys587Arg)
c.1555T>C (p.Cys519Arg)
c.1696T>C (p.Cys566Arg)
c.1750T>C (p.Cys584Arg)
c.1546T>C (p.Cys516Arg)
 gnomAD v4
7g.75985958T>GCA367750502PORc.1480T>G (p.Cys494Gly)
c.1606T>G (p.Cys536Gly)
c.1705T>G (p.Cys569Gly)
c.*109-102T>G (n.*109-102T>G)
c.919T>G (p.Cys307Gly)
c.1856T>G
c.*1010T>G (n.*1010T>G)
n.316T>G
c.1759T>G (p.Cys587Gly)
c.1555T>G (p.Cys519Gly)
c.1696T>G (p.Cys566Gly)
c.1750T>G (p.Cys584Gly)
c.1546T>G (p.Cys516Gly)
 gnomAD v4
7g.75985958T=CA1718180445PORc.1480T= (p.Cys494=)
c.1606T= (p.Cys536=)
c.1705T= (p.Cys569=)
c.*109-102T= (n.*109-102T=)
c.919T= (p.Cys307=)
c.1856T=
c.*1010T= (n.*1010T=)
n.316T=
c.1759T= (p.Cys587=)
c.1555T= (p.Cys519=)
c.1696T= (p.Cys566=)
c.1750T= (p.Cys584=)
c.1546T= (p.Cys516=)
7g.75985959G>ACA257655PORc.1481G>A (p.Cys494Tyr)
c.1607G>A (p.Cys536Tyr)
c.1706G>A (p.Cys569Tyr)
c.*109-101G>A (n.*109-101G>A)
c.920G>A (p.Cys307Tyr)
c.1857G>A
c.*1011G>A (n.*1011G>A)
n.317G>A
c.1760G>A (p.Cys587Tyr)
c.1556G>A (p.Cys519Tyr)
c.1697G>A (p.Cys566Tyr)
c.1751G>A (p.Cys584Tyr)
c.1547G>A (p.Cys516Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75985959G>CCA367750505PORc.1481G>C (p.Cys494Ser)
c.1607G>C (p.Cys536Ser)
c.1706G>C (p.Cys569Ser)
c.*109-101G>C (n.*109-101G>C)
c.920G>C (p.Cys307Ser)
c.1857G>C
c.*1011G>C (n.*1011G>C)
n.317G>C
c.1760G>C (p.Cys587Ser)
c.1556G>C (p.Cys519Ser)
c.1697G>C (p.Cys566Ser)
c.1751G>C (p.Cys584Ser)
c.1547G>C (p.Cys516Ser)
7g.75985959G=CA1718180446PORc.1481G= (p.Cys494=)
c.1607G= (p.Cys536=)
c.1706G= (p.Cys569=)
c.*109-101G= (n.*109-101G=)
c.920G= (p.Cys307=)
c.1857G=
c.*1011G= (n.*1011G=)
n.317G=
c.1760G= (p.Cys587=)
c.1556G= (p.Cys519=)
c.1697G= (p.Cys566=)
c.1751G= (p.Cys584=)
c.1547G= (p.Cys516=)
7g.75985959G>TCA367750506PORc.1481G>T (p.Cys494Phe)
c.1607G>T (p.Cys536Phe)
c.1706G>T (p.Cys569Phe)
c.*109-101G>T (n.*109-101G>T)
c.920G>T (p.Cys307Phe)
c.1857G>T
c.*1011G>T (n.*1011G>T)
n.317G>T
c.1760G>T (p.Cys587Phe)
c.1556G>T (p.Cys519Phe)
c.1697G>T (p.Cys566Phe)
c.1751G>T (p.Cys584Phe)
c.1547G>T (p.Cys516Phe)
 gnomAD v4
7g.75985959dupCA367750504PORc.1481dup (p.Cys494TrpfsTer6)
c.1607dup (p.Cys536TrpfsTer6)
c.1706dup (p.Cys569TrpfsTer6)
c.*109-101dup (n.*109-101dup)
c.920dup (p.Cys307TrpfsTer6)
c.1857dup
c.*1011dup (n.*1011dup)
n.317dup
c.1760dup (p.Cys587TrpfsTer6)
c.1556dup (p.Cys519TrpfsTer6)
c.1697dup (p.Cys566TrpfsTer6)
c.1751dup (p.Cys584TrpfsTer6)
c.1547dup (p.Cys516TrpfsTer6)
 dbSNP
7g.75985959_75985961delinsGCCCA1718180447PORc.1481_1483delinsGCC (p.Cys494=)
c.1607_1609delinsGCC (p.Cys536=)
c.1706_1708delinsGCC (p.Cys569=)
c.*109-101_*109-99delinsGCC (n.*109-101_*109-99delinsGCC)
c.920_922delinsGCC (p.Cys307=)
c.1857_1859delinsGCC
c.*1011_*1013delinsGCC (n.*1011_*1013delinsGCC)
n.317_319delinsGCC
c.1760_1762delinsGCC (p.Cys587=)
c.1556_1558delinsGCC (p.Cys519=)
c.1697_1699delinsGCC (p.Cys566=)
c.1751_1753delinsGCC (p.Cys584=)
c.1547_1549delinsGCC (p.Cys516=)
7g.75985960C>ACA4304255PORc.1482C>A (p.Cys494Ter)
c.1608C>A (p.Cys536Ter)
c.1707C>A (p.Cys569Ter)
c.*109-100C>A (n.*109-100C>A)
c.921C>A (p.Cys307Ter)
c.1858C>A
c.*1012C>A (n.*1012C>A)
n.318C>A
c.1761C>A (p.Cys587Ter)
c.1557C>A (p.Cys519Ter)
c.1698C>A (p.Cys566Ter)
c.1752C>A (p.Cys584Ter)
c.1548C>A (p.Cys516Ter)
 dbSNP ExAC gnomAD v4
7g.75985960C=CA1718180448PORc.1482C= (p.Cys494=)
c.1608C= (p.Cys536=)
c.1707C= (p.Cys569=)
c.*109-100C= (n.*109-100C=)
c.921C= (p.Cys307=)
c.1858C=
c.*1012C= (n.*1012C=)
n.318C=
c.1761C= (p.Cys587=)
c.1557C= (p.Cys519=)
c.1698C= (p.Cys566=)
c.1752C= (p.Cys584=)
c.1548C= (p.Cys516=)
7g.75985960C>GCA4304254PORc.1482C>G (p.Cys494Trp)
c.1608C>G (p.Cys536Trp)
c.1707C>G (p.Cys569Trp)
c.*109-100C>G (n.*109-100C>G)
c.921C>G (p.Cys307Trp)
c.1858C>G
c.*1012C>G (n.*1012C>G)
n.318C>G
c.1761C>G (p.Cys587Trp)
c.1557C>G (p.Cys519Trp)
c.1698C>G (p.Cys566Trp)
c.1752C>G (p.Cys584Trp)
c.1548C>G (p.Cys516Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.75985960C>TCA456331365PORc.1482C>T (p.Cys494=)
c.1608C>T (p.Cys536=)
c.1707C>T (p.Cys569=)
c.*109-100C>T (n.*109-100C>T)
c.921C>T (p.Cys307=)
c.1858C>T
c.*1012C>T (n.*1012C>T)
n.318C>T
c.1761C>T (p.Cys587=)
c.1557C>T (p.Cys519=)
c.1698C>T (p.Cys566=)
c.1752C>T (p.Cys584=)
c.1548C>T (p.Cys516=)
 dbSNP gnomAD v4
7g.75985960_75985961delCA456331364PORc.1482_1483del (p.Cys494TrpfsTer5)
c.1608_1609del (p.Cys536TrpfsTer5)
c.1707_1708del (p.Cys569TrpfsTer5)
c.*109-100_*109-99del (n.*109-100_*109-99del)
c.921_922del (p.Cys307TrpfsTer5)
c.1858_1859del
c.*1012_*1013del (n.*1012_*1013del)
n.318_319del
c.1761_1762del (p.Cys587TrpfsTer5)
c.1557_1558del (p.Cys519TrpfsTer5)
c.1698_1699del (p.Cys566TrpfsTer5)
c.1752_1753del (p.Cys584TrpfsTer5)
c.1548_1549del (p.Cys516TrpfsTer5)
 dbSNP
7g.75985961C>ACA367750507PORc.1483C>A (p.Arg495Ser)
c.1609C>A (p.Arg537Ser)
c.1708C>A (p.Arg570Ser)
c.*109-99C>A (n.*109-99C>A)
c.922C>A (p.Arg308Ser)
c.1859C>A
c.*1013C>A (n.*1013C>A)
n.319C>A
c.1762C>A (p.Arg588Ser)
c.1558C>A (p.Arg520Ser)
c.1699C>A (p.Arg567Ser)
c.1753C>A (p.Arg585Ser)
c.1549C>A (p.Arg517Ser)
 gnomAD v4
7g.75985961C=CA1718180449PORc.1483C= (p.Arg495=)
c.1609C= (p.Arg537=)
c.1708C= (p.Arg570=)
c.*109-99C= (n.*109-99C=)
c.922C= (p.Arg308=)
c.1859C=
c.*1013C= (n.*1013C=)
n.319C=
c.1762C= (p.Arg588=)
c.1558C= (p.Arg520=)
c.1699C= (p.Arg567=)
c.1753C= (p.Arg585=)
c.1549C= (p.Arg517=)
7g.75985961C>GCA367750509PORc.1483C>G (p.Arg495Gly)
c.1609C>G (p.Arg537Gly)
c.1708C>G (p.Arg570Gly)
c.*109-99C>G (n.*109-99C>G)
c.922C>G (p.Arg308Gly)
c.1859C>G
c.*1013C>G (n.*1013C>G)
n.319C>G
c.1762C>G (p.Arg588Gly)
c.1558C>G (p.Arg520Gly)
c.1699C>G (p.Arg567Gly)
c.1753C>G (p.Arg585Gly)
c.1549C>G (p.Arg517Gly)
7g.75985961C>TCA4304256PORc.1483C>T (p.Arg495Cys)
c.1609C>T (p.Arg537Cys)
c.1708C>T (p.Arg570Cys)
c.*109-99C>T (n.*109-99C>T)
c.922C>T (p.Arg308Cys)
c.1859C>T
c.*1013C>T (n.*1013C>T)
n.319C>T
c.1762C>T (p.Arg588Cys)
c.1558C>T (p.Arg520Cys)
c.1699C>T (p.Arg567Cys)
c.1753C>T (p.Arg585Cys)
c.1549C>T (p.Arg517Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985962_75985963delCA367750508PORc.1484_1485del (p.Arg495ProfsTer4)
c.1610_1611del (p.Arg537ProfsTer4)
c.1709_1710del (p.Arg570ProfsTer4)
c.*109-98_*109-97del (n.*109-98_*109-97del)
c.923_924del (p.Arg308ProfsTer4)
c.1860_1861del
c.*1014_*1015del (n.*1014_*1015del)
n.320_321del
c.1763_1764del (p.Arg588ProfsTer4)
c.1559_1560del (p.Arg520ProfsTer4)
c.1700_1701del (p.Arg567ProfsTer4)
c.1754_1755del (p.Arg585ProfsTer4)
c.1550_1551del (p.Arg517ProfsTer4)
7g.75985962G>ACA4304257PORc.1484G>A (p.Arg495His)
c.1610G>A (p.Arg537His)
c.1709G>A (p.Arg570His)
c.*109-98G>A (n.*109-98G>A)
c.923G>A (p.Arg308His)
c.1860G>A
c.*1014G>A (n.*1014G>A)
n.320G>A
c.1763G>A (p.Arg588His)
c.1559G>A (p.Arg520His)
c.1700G>A (p.Arg567His)
c.1754G>A (p.Arg585His)
c.1550G>A (p.Arg517His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985962G>CCA367750510PORc.1484G>C (p.Arg495Pro)
c.1610G>C (p.Arg537Pro)
c.1709G>C (p.Arg570Pro)
c.*109-98G>C (n.*109-98G>C)
c.923G>C (p.Arg308Pro)
c.1860G>C
c.*1014G>C (n.*1014G>C)
n.320G>C
c.1763G>C (p.Arg588Pro)
c.1559G>C (p.Arg520Pro)
c.1700G>C (p.Arg567Pro)
c.1754G>C (p.Arg585Pro)
c.1550G>C (p.Arg517Pro)
7g.75985962G=CA1718180450PORc.1484G= (p.Arg495=)
c.1610G= (p.Arg537=)
c.1709G= (p.Arg570=)
c.*109-98G= (n.*109-98G=)
c.923G= (p.Arg308=)
c.1860G=
c.*1014G= (n.*1014G=)
n.320G=
c.1763G= (p.Arg588=)
c.1559G= (p.Arg520=)
c.1700G= (p.Arg567=)
c.1754G= (p.Arg585=)
c.1550G= (p.Arg517=)
7g.75985962G>TCA367750511PORc.1484G>T (p.Arg495Leu)
c.1610G>T (p.Arg537Leu)
c.1709G>T (p.Arg570Leu)
c.*109-98G>T (n.*109-98G>T)
c.923G>T (p.Arg308Leu)
c.1860G>T
c.*1014G>T (n.*1014G>T)
n.320G>T
c.1763G>T (p.Arg588Leu)
c.1559G>T (p.Arg520Leu)
c.1700G>T (p.Arg567Leu)
c.1754G>T (p.Arg585Leu)
c.1550G>T (p.Arg517Leu)
 gnomAD v4
7g.75985963C>ACA456331366PORc.1485C>A (p.Arg495=)
c.1611C>A (p.Arg537=)
c.1710C>A (p.Arg570=)
c.*109-97C>A (n.*109-97C>A)
c.924C>A (p.Arg308=)
c.1861C>A
c.*1015C>A (n.*1015C>A)
n.321C>A
c.1764C>A (p.Arg588=)
c.1560C>A (p.Arg520=)
c.1701C>A (p.Arg567=)
c.1755C>A (p.Arg585=)
c.1551C>A (p.Arg517=)
 gnomAD v4
7g.75985963C>GCA456331367PORc.1485C>G (p.Arg495=)
c.1611C>G (p.Arg537=)
c.1710C>G (p.Arg570=)
c.*109-97C>G (n.*109-97C>G)
c.924C>G (p.Arg308=)
c.1861C>G
c.*1015C>G (n.*1015C>G)
n.321C>G
c.1764C>G (p.Arg588=)
c.1560C>G (p.Arg520=)
c.1701C>G (p.Arg567=)
c.1755C>G (p.Arg585=)
c.1551C>G (p.Arg517=)
7g.75985963C>TCA456331368PORc.1485C>T (p.Arg495=)
c.1611C>T (p.Arg537=)
c.1710C>T (p.Arg570=)
c.*109-97C>T (n.*109-97C>T)
c.924C>T (p.Arg308=)
c.1861C>T
c.*1015C>T (n.*1015C>T)
n.321C>T
c.1764C>T (p.Arg588=)
c.1560C>T (p.Arg520=)
c.1701C>T (p.Arg567=)
c.1755C>T (p.Arg585=)
c.1551C>T (p.Arg517=)
 gnomAD v4
7g.75985964C>ACA367750513PORc.1486C>A (p.Arg496Ser)
c.1612C>A (p.Arg538Ser)
c.1711C>A (p.Arg571Ser)
c.*109-96C>A (n.*109-96C>A)
c.925C>A (p.Arg309Ser)
c.1862C>A
c.*1016C>A (n.*1016C>A)
n.322C>A
c.1765C>A (p.Arg589Ser)
c.1561C>A (p.Arg521Ser)
c.1702C>A (p.Arg568Ser)
c.1756C>A (p.Arg586Ser)
c.1552C>A (p.Arg518Ser)
 gnomAD v4 COSMIC COSMIC
7g.75985964C=CA1718180451PORc.1486C= (p.Arg496=)
c.1612C= (p.Arg538=)
c.1711C= (p.Arg571=)
c.*109-96C= (n.*109-96C=)
c.925C= (p.Arg309=)
c.1862C=
c.*1016C= (n.*1016C=)
n.322C=
c.1765C= (p.Arg589=)
c.1561C= (p.Arg521=)
c.1702C= (p.Arg568=)
c.1756C= (p.Arg586=)
c.1552C= (p.Arg518=)
7g.75985964C>GCA367750512PORc.1486C>G (p.Arg496Gly)
c.1612C>G (p.Arg538Gly)
c.1711C>G (p.Arg571Gly)
c.*109-96C>G (n.*109-96C>G)
c.925C>G (p.Arg309Gly)
c.1862C>G
c.*1016C>G (n.*1016C>G)
n.322C>G
c.1765C>G (p.Arg589Gly)
c.1561C>G (p.Arg521Gly)
c.1702C>G (p.Arg568Gly)
c.1756C>G (p.Arg586Gly)
c.1552C>G (p.Arg518Gly)
 gnomAD v4
7g.75985964C>TCA4304258PORc.1486C>T (p.Arg496Cys)
c.1612C>T (p.Arg538Cys)
c.1711C>T (p.Arg571Cys)
c.*109-96C>T (n.*109-96C>T)
c.925C>T (p.Arg309Cys)
c.1862C>T
c.*1016C>T (n.*1016C>T)
n.322C>T
c.1765C>T (p.Arg589Cys)
c.1561C>T (p.Arg521Cys)
c.1702C>T (p.Arg568Cys)
c.1756C>T (p.Arg586Cys)
c.1552C>T (p.Arg518Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985965G>ACA4304259PORc.1487G>A (p.Arg496His)
c.1613G>A (p.Arg538His)
c.1712G>A (p.Arg571His)
c.*109-95G>A (n.*109-95G>A)
c.926G>A (p.Arg309His)
c.1863G>A
c.*1017G>A (n.*1017G>A)
n.323G>A
c.1766G>A (p.Arg589His)
c.1562G>A (p.Arg521His)
c.1703G>A (p.Arg568His)
c.1757G>A (p.Arg586His)
c.1553G>A (p.Arg518His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985965G>CCA367750514PORc.1487G>C (p.Arg496Pro)
c.1613G>C (p.Arg538Pro)
c.1712G>C (p.Arg571Pro)
c.*109-95G>C (n.*109-95G>C)
c.926G>C (p.Arg309Pro)
c.1863G>C
c.*1017G>C (n.*1017G>C)
n.323G>C
c.1766G>C (p.Arg589Pro)
c.1562G>C (p.Arg521Pro)
c.1703G>C (p.Arg568Pro)
c.1757G>C (p.Arg586Pro)
c.1553G>C (p.Arg518Pro)
7g.75985965G=CA1718180452PORc.1487G= (p.Arg496=)
c.1613G= (p.Arg538=)
c.1712G= (p.Arg571=)
c.*109-95G= (n.*109-95G=)
c.926G= (p.Arg309=)
c.1863G=
c.*1017G= (n.*1017G=)
n.323G=
c.1766G= (p.Arg589=)
c.1562G= (p.Arg521=)
c.1703G= (p.Arg568=)
c.1757G= (p.Arg586=)
c.1553G= (p.Arg518=)
7g.75985965G>TCA367750515PORc.1487G>T (p.Arg496Leu)
c.1613G>T (p.Arg538Leu)
c.1712G>T (p.Arg571Leu)
c.*109-95G>T (n.*109-95G>T)
c.926G>T (p.Arg309Leu)
c.1863G>T
c.*1017G>T (n.*1017G>T)
n.323G>T
c.1766G>T (p.Arg589Leu)
c.1562G>T (p.Arg521Leu)
c.1703G>T (p.Arg568Leu)
c.1757G>T (p.Arg586Leu)
c.1553G>T (p.Arg518Leu)
 dbSNP gnomAD v2 gnomAD v4
7g.75985966C>ACA456331376PORc.1488C>A (p.Arg496=)
c.1614C>A (p.Arg538=)
c.1713C>A (p.Arg571=)
c.*109-94C>A (n.*109-94C>A)
c.927C>A (p.Arg309=)
c.1864C>A
c.*1018C>A (n.*1018C>A)
n.324C>A
c.1767C>A (p.Arg589=)
c.1563C>A (p.Arg521=)
c.1704C>A (p.Arg568=)
c.1758C>A (p.Arg586=)
c.1554C>A (p.Arg518=)
 gnomAD v4
7g.75985966C>GCA456331369PORc.1488C>G (p.Arg496=)
c.1614C>G (p.Arg538=)
c.1713C>G (p.Arg571=)
c.*109-94C>G (n.*109-94C>G)
c.927C>G (p.Arg309=)
c.1864C>G
c.*1018C>G (n.*1018C>G)
n.324C>G
c.1767C>G (p.Arg589=)
c.1563C>G (p.Arg521=)
c.1704C>G (p.Arg568=)
c.1758C>G (p.Arg586=)
c.1554C>G (p.Arg518=)
7g.75985966C>TCA456331370PORc.1488C>T (p.Arg496=)
c.1614C>T (p.Arg538=)
c.1713C>T (p.Arg571=)
c.*109-94C>T (n.*109-94C>T)
c.927C>T (p.Arg309=)
c.1864C>T
c.*1018C>T (n.*1018C>T)
n.324C>T
c.1767C>T (p.Arg589=)
c.1563C>T (p.Arg521=)
c.1704C>T (p.Arg568=)
c.1758C>T (p.Arg586=)
c.1554C>T (p.Arg518=)
 gnomAD v4
7g.75985967T>ACA367750516PORc.1489T>A (p.Ser497Thr)
c.1615T>A (p.Ser539Thr)
c.1714T>A (p.Ser572Thr)
c.*109-93T>A (n.*109-93T>A)
c.928T>A (p.Ser310Thr)
c.1865T>A
c.*1019T>A (n.*1019T>A)
n.325T>A
c.1768T>A (p.Ser590Thr)
c.1564T>A (p.Ser522Thr)
c.1705T>A (p.Ser569Thr)
c.1759T>A (p.Ser587Thr)
c.1555T>A (p.Ser519Thr)
7g.75985967T>CCA367750517PORc.1489T>C (p.Ser497Pro)
c.1615T>C (p.Ser539Pro)
c.1714T>C (p.Ser572Pro)
c.*109-93T>C (n.*109-93T>C)
c.928T>C (p.Ser310Pro)
c.1865T>C
c.*1019T>C (n.*1019T>C)
n.325T>C
c.1768T>C (p.Ser590Pro)
c.1564T>C (p.Ser522Pro)
c.1705T>C (p.Ser569Pro)
c.1759T>C (p.Ser587Pro)
c.1555T>C (p.Ser519Pro)
7g.75985967T>GCA367750518PORc.1489T>G (p.Ser497Ala)
c.1615T>G (p.Ser539Ala)
c.1714T>G (p.Ser572Ala)
c.*109-93T>G (n.*109-93T>G)
c.928T>G (p.Ser310Ala)
c.1865T>G
c.*1019T>G (n.*1019T>G)
n.325T>G
c.1768T>G (p.Ser590Ala)
c.1564T>G (p.Ser522Ala)
c.1705T>G (p.Ser569Ala)
c.1759T>G (p.Ser587Ala)
c.1555T>G (p.Ser519Ala)
7g.75985968C>ACA367750519PORc.1490C>A (p.Ser497Ter)
c.1616C>A (p.Ser539Ter)
c.1715C>A (p.Ser572Ter)
c.*109-92C>A (n.*109-92C>A)
c.929C>A (p.Ser310Ter)
c.1866C>A
c.*1020C>A (n.*1020C>A)
n.326C>A
c.1769C>A (p.Ser590Ter)
c.1565C>A (p.Ser522Ter)
c.1706C>A (p.Ser569Ter)
c.1760C>A (p.Ser587Ter)
c.1556C>A (p.Ser519Ter)
 gnomAD v4
7g.75985968C=CA1718180453PORc.1490C= (p.Ser497=)
c.1616C= (p.Ser539=)
c.1715C= (p.Ser572=)
c.*109-92C= (n.*109-92C=)
c.929C= (p.Ser310=)
c.1866C=
c.*1020C= (n.*1020C=)
n.326C=
c.1769C= (p.Ser590=)
c.1565C= (p.Ser522=)
c.1706C= (p.Ser569=)
c.1760C= (p.Ser587=)
c.1556C= (p.Ser519=)
7g.75985968C>GCA367750520PORc.1490C>G (p.Ser497Trp)
c.1616C>G (p.Ser539Trp)
c.1715C>G (p.Ser572Trp)
c.*109-92C>G (n.*109-92C>G)
c.929C>G (p.Ser310Trp)
c.1866C>G
c.*1020C>G (n.*1020C>G)
n.326C>G
c.1769C>G (p.Ser590Trp)
c.1565C>G (p.Ser522Trp)
c.1706C>G (p.Ser569Trp)
c.1760C>G (p.Ser587Trp)
c.1556C>G (p.Ser519Trp)
7g.75985968C>TCA4304260PORc.1490C>T (p.Ser497Leu)
c.1616C>T (p.Ser539Leu)
c.1715C>T (p.Ser572Leu)
c.*109-92C>T (n.*109-92C>T)
c.929C>T (p.Ser310Leu)
c.1866C>T
c.*1020C>T (n.*1020C>T)
n.326C>T
c.1769C>T (p.Ser590Leu)
c.1565C>T (p.Ser522Leu)
c.1706C>T (p.Ser569Leu)
c.1760C>T (p.Ser587Leu)
c.1556C>T (p.Ser519Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985969G>ACA4304261PORc.1491G>A (p.Ser497=)
c.1617G>A (p.Ser539=)
c.1716G>A (p.Ser572=)
c.*109-91G>A (n.*109-91G>A)
c.930G>A (p.Ser310=)
c.1867G>A
c.*1021G>A (n.*1021G>A)
n.327G>A
c.1770G>A (p.Ser590=)
c.1566G>A (p.Ser522=)
c.1707G>A (p.Ser569=)
c.1761G>A (p.Ser587=)
c.1557G>A (p.Ser519=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985969G>CCA456331379PORc.1491G>C (p.Ser497=)
c.1617G>C (p.Ser539=)
c.1716G>C (p.Ser572=)
c.*109-91G>C (n.*109-91G>C)
c.930G>C (p.Ser310=)
c.1867G>C
c.*1021G>C (n.*1021G>C)
n.327G>C
c.1770G>C (p.Ser590=)
c.1566G>C (p.Ser522=)
c.1707G>C (p.Ser569=)
c.1761G>C (p.Ser587=)
c.1557G>C (p.Ser519=)
7g.75985969G=CA1718180454PORc.1491G= (p.Ser497=)
c.1617G= (p.Ser539=)
c.1716G= (p.Ser572=)
c.*109-91G= (n.*109-91G=)
c.930G= (p.Ser310=)
c.1867G=
c.*1021G= (n.*1021G=)
n.327G=
c.1770G= (p.Ser590=)
c.1566G= (p.Ser522=)
c.1707G= (p.Ser569=)
c.1761G= (p.Ser587=)
c.1557G= (p.Ser519=)
7g.75985969G>TCA456331380PORc.1491G>T (p.Ser497=)
c.1617G>T (p.Ser539=)
c.1716G>T (p.Ser572=)
c.*109-91G>T (n.*109-91G>T)
c.930G>T (p.Ser310=)
c.1867G>T
c.*1021G>T (n.*1021G>T)
n.327G>T
c.1770G>T (p.Ser590=)
c.1566G>T (p.Ser522=)
c.1707G>T (p.Ser569=)
c.1761G>T (p.Ser587=)
c.1557G>T (p.Ser519=)
 gnomAD v4
7g.75985970G>ACA367750521PORc.1492G>A (p.Asp498Asn)
c.1618G>A (p.Asp540Asn)
c.1717G>A (p.Asp573Asn)
c.*109-90G>A (n.*109-90G>A)
c.931G>A (p.Asp311Asn)
c.1868G>A
c.*1022G>A (n.*1022G>A)
n.328G>A
c.1771G>A (p.Asp591Asn)
c.1567G>A (p.Asp523Asn)
c.1708G>A (p.Asp570Asn)
c.1762G>A (p.Asp588Asn)
c.1558G>A (p.Asp520Asn)
7g.75985970G>CCA4304262PORc.1492G>C (p.Asp498His)
c.1618G>C (p.Asp540His)
c.1717G>C (p.Asp573His)
c.*109-90G>C (n.*109-90G>C)
c.931G>C (p.Asp311His)
c.1868G>C
c.*1022G>C (n.*1022G>C)
n.328G>C
c.1771G>C (p.Asp591His)
c.1567G>C (p.Asp523His)
c.1708G>C (p.Asp570His)
c.1762G>C (p.Asp588His)
c.1558G>C (p.Asp520His)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.75985970G=CA1718180455PORc.1492G= (p.Asp498=)
c.1618G= (p.Asp540=)
c.1717G= (p.Asp573=)
c.*109-90G= (n.*109-90G=)
c.931G= (p.Asp311=)
c.1868G=
c.*1022G= (n.*1022G=)
n.328G=
c.1771G= (p.Asp591=)
c.1567G= (p.Asp523=)
c.1708G= (p.Asp570=)
c.1762G= (p.Asp588=)
c.1558G= (p.Asp520=)
7g.75985970G>TCA367750522PORc.1492G>T (p.Asp498Tyr)
c.1618G>T (p.Asp540Tyr)
c.1717G>T (p.Asp573Tyr)
c.*109-90G>T (n.*109-90G>T)
c.931G>T (p.Asp311Tyr)
c.1868G>T
c.*1022G>T (n.*1022G>T)
n.328G>T
c.1771G>T (p.Asp591Tyr)
c.1567G>T (p.Asp523Tyr)
c.1708G>T (p.Asp570Tyr)
c.1762G>T (p.Asp588Tyr)
c.1558G>T (p.Asp520Tyr)
 gnomAD v4
7g.75985971A>CCA367750523PORc.1493A>C (p.Asp498Ala)
c.1619A>C (p.Asp540Ala)
c.1718A>C (p.Asp573Ala)
c.*109-89A>C (n.*109-89A>C)
c.932A>C (p.Asp311Ala)
c.1869A>C
c.*1023A>C (n.*1023A>C)
n.329A>C
c.1772A>C (p.Asp591Ala)
c.1568A>C (p.Asp523Ala)
c.1709A>C (p.Asp570Ala)
c.1763A>C (p.Asp588Ala)
c.1559A>C (p.Asp520Ala)
7g.75985971A>GCA367750525PORc.1493A>G (p.Asp498Gly)
c.1619A>G (p.Asp540Gly)
c.1718A>G (p.Asp573Gly)
c.*109-89A>G (n.*109-89A>G)
c.932A>G (p.Asp311Gly)
c.1869A>G
c.*1023A>G (n.*1023A>G)
n.329A>G
c.1772A>G (p.Asp591Gly)
c.1568A>G (p.Asp523Gly)
c.1709A>G (p.Asp570Gly)
c.1763A>G (p.Asp588Gly)
c.1559A>G (p.Asp520Gly)
7g.75985971A>TCA367750524PORc.1493A>T (p.Asp498Val)
c.1619A>T (p.Asp540Val)
c.1718A>T (p.Asp573Val)
c.*109-89A>T (n.*109-89A>T)
c.932A>T (p.Asp311Val)
c.1869A>T
c.*1023A>T (n.*1023A>T)
n.329A>T
c.1772A>T (p.Asp591Val)
c.1568A>T (p.Asp523Val)
c.1709A>T (p.Asp570Val)
c.1763A>T (p.Asp588Val)
c.1559A>T (p.Asp520Val)
7g.75985972T>ACA367750526PORc.1494T>A (p.Asp498Glu)
c.1620T>A (p.Asp540Glu)
c.1719T>A (p.Asp573Glu)
c.*109-88T>A (n.*109-88T>A)
c.933T>A (p.Asp311Glu)
c.1870T>A
c.*1024T>A (n.*1024T>A)
n.330T>A
c.1773T>A (p.Asp591Glu)
c.1569T>A (p.Asp523Glu)
c.1710T>A (p.Asp570Glu)
c.1764T>A (p.Asp588Glu)
c.1560T>A (p.Asp520Glu)
 gnomAD v4
7g.75985972T>CCA456331381PORc.1494T>C (p.Asp498=)
c.1620T>C (p.Asp540=)
c.1719T>C (p.Asp573=)
c.*109-88T>C (n.*109-88T>C)
c.933T>C (p.Asp311=)
c.1870T>C
c.*1024T>C (n.*1024T>C)
n.330T>C
c.1773T>C (p.Asp591=)
c.1569T>C (p.Asp523=)
c.1710T>C (p.Asp570=)
c.1764T>C (p.Asp588=)
c.1560T>C (p.Asp520=)
 COSMIC COSMIC
7g.75985972T>GCA367750527PORc.1494T>G (p.Asp498Glu)
c.1620T>G (p.Asp540Glu)
c.1719T>G (p.Asp573Glu)
c.*109-88T>G (n.*109-88T>G)
c.933T>G (p.Asp311Glu)
c.1870T>G
c.*1024T>G (n.*1024T>G)
n.330T>G
c.1773T>G (p.Asp591Glu)
c.1569T>G (p.Asp523Glu)
c.1710T>G (p.Asp570Glu)
c.1764T>G (p.Asp588Glu)
c.1560T>G (p.Asp520Glu)
7g.75985973G>ACA367750528PORc.1495G>A (p.Glu499Lys)
c.1621G>A (p.Glu541Lys)
c.1720G>A (p.Glu574Lys)
c.*109-87G>A (n.*109-87G>A)
c.934G>A (p.Glu312Lys)
c.1871G>A
c.*1025G>A (n.*1025G>A)
n.331G>A
c.1774G>A (p.Glu592Lys)
c.1570G>A (p.Glu524Lys)
c.1711G>A (p.Glu571Lys)
c.1765G>A (p.Glu589Lys)
c.1561G>A (p.Glu521Lys)
 gnomAD v4
7g.75985973G>CCA367750529PORc.1495G>C (p.Glu499Gln)
c.1621G>C (p.Glu541Gln)
c.1720G>C (p.Glu574Gln)
c.*109-87G>C (n.*109-87G>C)
c.934G>C (p.Glu312Gln)
c.1871G>C
c.*1025G>C (n.*1025G>C)
n.331G>C
c.1774G>C (p.Glu592Gln)
c.1570G>C (p.Glu524Gln)
c.1711G>C (p.Glu571Gln)
c.1765G>C (p.Glu589Gln)
c.1561G>C (p.Glu521Gln)
7g.75985973G>TCA367750530PORc.1495G>T (p.Glu499Ter)
c.1621G>T (p.Glu541Ter)
c.1720G>T (p.Glu574Ter)
c.*109-87G>T (n.*109-87G>T)
c.934G>T (p.Glu312Ter)
c.1871G>T
c.*1025G>T (n.*1025G>T)
n.331G>T
c.1774G>T (p.Glu592Ter)
c.1570G>T (p.Glu524Ter)
c.1711G>T (p.Glu571Ter)
c.1765G>T (p.Glu589Ter)
c.1561G>T (p.Glu521Ter)
7g.75985974A>CCA367750531PORc.1496A>C (p.Glu499Ala)
c.1622A>C (p.Glu541Ala)
c.1721A>C (p.Glu574Ala)
c.*109-86A>C (n.*109-86A>C)
c.935A>C (p.Glu312Ala)
c.1872A>C
c.*1026A>C (n.*1026A>C)
n.332A>C
c.1775A>C (p.Glu592Ala)
c.1571A>C (p.Glu524Ala)
c.1712A>C (p.Glu571Ala)
c.1766A>C (p.Glu589Ala)
c.1562A>C (p.Glu521Ala)
7g.75985974A>GCA367750532PORc.1496A>G (p.Glu499Gly)
c.1622A>G (p.Glu541Gly)
c.1721A>G (p.Glu574Gly)
c.*109-86A>G (n.*109-86A>G)
c.935A>G (p.Glu312Gly)
c.1872A>G
c.*1026A>G (n.*1026A>G)
n.332A>G
c.1775A>G (p.Glu592Gly)
c.1571A>G (p.Glu524Gly)
c.1712A>G (p.Glu571Gly)
c.1766A>G (p.Glu589Gly)
c.1562A>G (p.Glu521Gly)
 gnomAD v4
7g.75985974A>TCA367750533PORc.1496A>T (p.Glu499Val)
c.1622A>T (p.Glu541Val)
c.1721A>T (p.Glu574Val)
c.*109-86A>T (n.*109-86A>T)
c.935A>T (p.Glu312Val)
c.1872A>T
c.*1026A>T (n.*1026A>T)
n.332A>T
c.1775A>T (p.Glu592Val)
c.1571A>T (p.Glu524Val)
c.1712A>T (p.Glu571Val)
c.1766A>T (p.Glu589Val)
c.1562A>T (p.Glu521Val)
 gnomAD v4
7g.75985975G>ACA456331386PORc.1497G>A (p.Glu499=)
c.1623G>A (p.Glu541=)
c.1722G>A (p.Glu574=)
c.*109-85G>A (n.*109-85G>A)
c.936G>A (p.Glu312=)
c.1873G>A
c.*1027G>A (n.*1027G>A)
n.333G>A
c.1776G>A (p.Glu592=)
c.1572G>A (p.Glu524=)
c.1713G>A (p.Glu571=)
c.1767G>A (p.Glu589=)
c.1563G>A (p.Glu521=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75985975G>CCA367750534PORc.1497G>C (p.Glu499Asp)
c.1623G>C (p.Glu541Asp)
c.1722G>C (p.Glu574Asp)
c.*109-85G>C (n.*109-85G>C)
c.936G>C (p.Glu312Asp)
c.1873G>C
c.*1027G>C (n.*1027G>C)
n.333G>C
c.1776G>C (p.Glu592Asp)
c.1572G>C (p.Glu524Asp)
c.1713G>C (p.Glu571Asp)
c.1767G>C (p.Glu589Asp)
c.1563G>C (p.Glu521Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.75985975G=CA1718180456PORc.1497G= (p.Glu499=)
c.1623G= (p.Glu541=)
c.1722G= (p.Glu574=)
c.*109-85G= (n.*109-85G=)
c.936G= (p.Glu312=)
c.1873G=
c.*1027G= (n.*1027G=)
n.333G=
c.1776G= (p.Glu592=)
c.1572G= (p.Glu524=)
c.1713G= (p.Glu571=)
c.1767G= (p.Glu589=)
c.1563G= (p.Glu521=)
7g.75985975G>TCA367750535PORc.1497G>T (p.Glu499Asp)
c.1623G>T (p.Glu541Asp)
c.1722G>T (p.Glu574Asp)
c.*109-85G>T (n.*109-85G>T)
c.936G>T (p.Glu312Asp)
c.1873G>T
c.*1027G>T (n.*1027G>T)
n.333G>T
c.1776G>T (p.Glu592Asp)
c.1572G>T (p.Glu524Asp)
c.1713G>T (p.Glu571Asp)
c.1767G>T (p.Glu589Asp)
c.1563G>T (p.Glu521Asp)
7g.75985976G>ACA4304263PORc.1498G>A (p.Asp500Asn)
c.1624G>A (p.Asp542Asn)
c.1723G>A (p.Asp575Asn)
c.*109-84G>A (n.*109-84G>A)
c.937G>A (p.Asp313Asn)
c.1874G>A
c.*1028G>A (n.*1028G>A)
n.334G>A
c.1777G>A (p.Asp593Asn)
c.1573G>A (p.Asp525Asn)
c.1714G>A (p.Asp572Asn)
c.1768G>A (p.Asp590Asn)
c.1564G>A (p.Asp522Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985976G>CCA367750536PORc.1498G>C (p.Asp500His)
c.1624G>C (p.Asp542His)
c.1723G>C (p.Asp575His)
c.*109-84G>C (n.*109-84G>C)
c.937G>C (p.Asp313His)
c.1874G>C
c.*1028G>C (n.*1028G>C)
n.334G>C
c.1777G>C (p.Asp593His)
c.1573G>C (p.Asp525His)
c.1714G>C (p.Asp572His)
c.1768G>C (p.Asp590His)
c.1564G>C (p.Asp522His)
7g.75985976G=CA1718180457PORc.1498G= (p.Asp500=)
c.1624G= (p.Asp542=)
c.1723G= (p.Asp575=)
c.*109-84G= (n.*109-84G=)
c.937G= (p.Asp313=)
c.1874G=
c.*1028G= (n.*1028G=)
n.334G=
c.1777G= (p.Asp593=)
c.1573G= (p.Asp525=)
c.1714G= (p.Asp572=)
c.1768G= (p.Asp590=)
c.1564G= (p.Asp522=)
7g.75985976G>TCA367750537PORc.1498G>T (p.Asp500Tyr)
c.1624G>T (p.Asp542Tyr)
c.1723G>T (p.Asp575Tyr)
c.*109-84G>T (n.*109-84G>T)
c.937G>T (p.Asp313Tyr)
c.1874G>T
c.*1028G>T (n.*1028G>T)
n.334G>T
c.1777G>T (p.Asp593Tyr)
c.1573G>T (p.Asp525Tyr)
c.1714G>T (p.Asp572Tyr)
c.1768G>T (p.Asp590Tyr)
c.1564G>T (p.Asp522Tyr)
 gnomAD v4
7g.75985977A>CCA367750540PORc.1499A>C (p.Asp500Ala)
c.1625A>C (p.Asp542Ala)
c.1724A>C (p.Asp575Ala)
c.*109-83A>C (n.*109-83A>C)
c.938A>C (p.Asp313Ala)
c.1875A>C
c.*1029A>C (n.*1029A>C)
n.335A>C
c.1778A>C (p.Asp593Ala)
c.1574A>C (p.Asp525Ala)
c.1715A>C (p.Asp572Ala)
c.1769A>C (p.Asp590Ala)
c.1565A>C (p.Asp522Ala)
7g.75985977A>GCA367750538PORc.1499A>G (p.Asp500Gly)
c.1625A>G (p.Asp542Gly)
c.1724A>G (p.Asp575Gly)
c.*109-83A>G (n.*109-83A>G)
c.938A>G (p.Asp313Gly)
c.1875A>G
c.*1029A>G (n.*1029A>G)
n.335A>G
c.1778A>G (p.Asp593Gly)
c.1574A>G (p.Asp525Gly)
c.1715A>G (p.Asp572Gly)
c.1769A>G (p.Asp590Gly)
c.1565A>G (p.Asp522Gly)
7g.75985977A>TCA367750539PORc.1499A>T (p.Asp500Val)
c.1625A>T (p.Asp542Val)
c.1724A>T (p.Asp575Val)
c.*109-83A>T (n.*109-83A>T)
c.938A>T (p.Asp313Val)
c.1875A>T
c.*1029A>T (n.*1029A>T)
n.335A>T
c.1778A>T (p.Asp593Val)
c.1574A>T (p.Asp525Val)
c.1715A>T (p.Asp572Val)
c.1769A>T (p.Asp590Val)
c.1565A>T (p.Asp522Val)
 gnomAD v4
7g.75985978C>ACA367750541PORc.1500C>A (p.Asp500Glu)
c.1626C>A (p.Asp542Glu)
c.1725C>A (p.Asp575Glu)
c.*109-82C>A (n.*109-82C>A)
c.939C>A (p.Asp313Glu)
c.1876C>A
c.*1030C>A (n.*1030C>A)
n.336C>A
c.1779C>A (p.Asp593Glu)
c.1575C>A (p.Asp525Glu)
c.1716C>A (p.Asp572Glu)
c.1770C>A (p.Asp590Glu)
c.1566C>A (p.Asp522Glu)
 gnomAD v4
7g.75985978C=CA1718180458PORc.1500C= (p.Asp500=)
c.1626C= (p.Asp542=)
c.1725C= (p.Asp575=)
c.*109-82C= (n.*109-82C=)
c.939C= (p.Asp313=)
c.1876C=
c.*1030C= (n.*1030C=)
n.336C=
c.1779C= (p.Asp593=)
c.1575C= (p.Asp525=)
c.1716C= (p.Asp572=)
c.1770C= (p.Asp590=)
c.1566C= (p.Asp522=)
7g.75985978C>GCA367750542PORc.1500C>G (p.Asp500Glu)
c.1626C>G (p.Asp542Glu)
c.1725C>G (p.Asp575Glu)
c.*109-82C>G (n.*109-82C>G)
c.939C>G (p.Asp313Glu)
c.1876C>G
c.*1030C>G (n.*1030C>G)
n.336C>G
c.1779C>G (p.Asp593Glu)
c.1575C>G (p.Asp525Glu)
c.1716C>G (p.Asp572Glu)
c.1770C>G (p.Asp590Glu)
c.1566C>G (p.Asp522Glu)
7g.75985978C>TCA456331389PORc.1500C>T (p.Asp500=)
c.1626C>T (p.Asp542=)
c.1725C>T (p.Asp575=)
c.*109-82C>T (n.*109-82C>T)
c.939C>T (p.Asp313=)
c.1876C>T
c.*1030C>T (n.*1030C>T)
n.336C>T
c.1779C>T (p.Asp593=)
c.1575C>T (p.Asp525=)
c.1716C>T (p.Asp572=)
c.1770C>T (p.Asp590=)
c.1566C>T (p.Asp522=)
 dbSNP gnomAD v2
7g.75985979T>ACA367750543PORc.1501T>A (p.Tyr501Asn)
c.1627T>A (p.Tyr543Asn)
c.1726T>A (p.Tyr576Asn)
c.*109-81T>A (n.*109-81T>A)
c.940T>A (p.Tyr314Asn)
c.1877T>A
c.*1031T>A (n.*1031T>A)
n.337T>A
c.1780T>A (p.Tyr594Asn)
c.1576T>A (p.Tyr526Asn)
c.1717T>A (p.Tyr573Asn)
c.1771T>A (p.Tyr591Asn)
c.1567T>A (p.Tyr523Asn)
7g.75985979T>CCA367750544PORc.1501T>C (p.Tyr501His)
c.1627T>C (p.Tyr543His)
c.1726T>C (p.Tyr576His)
c.*109-81T>C (n.*109-81T>C)
c.940T>C (p.Tyr314His)
c.1877T>C
c.*1031T>C (n.*1031T>C)
n.337T>C
c.1780T>C (p.Tyr594His)
c.1576T>C (p.Tyr526His)
c.1717T>C (p.Tyr573His)
c.1771T>C (p.Tyr591His)
c.1567T>C (p.Tyr523His)
 dbSNP gnomAD v4
7g.75985979T>GCA367750545PORc.1501T>G (p.Tyr501Asp)
c.1627T>G (p.Tyr543Asp)
c.1726T>G (p.Tyr576Asp)
c.*109-81T>G (n.*109-81T>G)
c.940T>G (p.Tyr314Asp)
c.1877T>G
c.*1031T>G (n.*1031T>G)
n.337T>G
c.1780T>G (p.Tyr594Asp)
c.1576T>G (p.Tyr526Asp)
c.1717T>G (p.Tyr573Asp)
c.1771T>G (p.Tyr591Asp)
c.1567T>G (p.Tyr523Asp)
7g.75985979T=CA1718180459PORc.1501T= (p.Tyr501=)
c.1627T= (p.Tyr543=)
c.1726T= (p.Tyr576=)
c.*109-81T= (n.*109-81T=)
c.940T= (p.Tyr314=)
c.1877T=
c.*1031T= (n.*1031T=)
n.337T=
c.1780T= (p.Tyr594=)
c.1576T= (p.Tyr526=)
c.1717T= (p.Tyr573=)
c.1771T= (p.Tyr591=)
c.1567T= (p.Tyr523=)
7g.75985979dupCA645561167PORc.1501dup (p.Tyr501LeufsTer?)
c.1627dup (p.Tyr543LeufsTer?)
c.1726dup (p.Tyr576LeufsTer?)
c.*109-81dup (n.*109-81dup)
c.940dup (p.Tyr314LeufsTer?)
c.1877dup
c.*1031dup (n.*1031dup)
n.337dup
c.1780dup (p.Tyr594LeufsTer?)
c.1576dup (p.Tyr526LeufsTer?)
c.1717dup (p.Tyr573LeufsTer?)
c.1771dup (p.Tyr591LeufsTer?)
c.1567dup (p.Tyr523LeufsTer?)
 COSMIC COSMIC
7g.75985980A=CA1718180460PORc.1502A= (p.Tyr501=)
c.1628A= (p.Tyr543=)
c.1727A= (p.Tyr576=)
c.*109-80A= (n.*109-80A=)
c.941A= (p.Tyr314=)
c.1878A=
c.*1032A= (n.*1032A=)
n.338A=
c.1781A= (p.Tyr594=)
c.1577A= (p.Tyr526=)
c.1718A= (p.Tyr573=)
c.1772A= (p.Tyr591=)
c.1568A= (p.Tyr523=)
7g.75985980A>CCA367750546PORc.1502A>C (p.Tyr501Ser)
c.1628A>C (p.Tyr543Ser)
c.1727A>C (p.Tyr576Ser)
c.*109-80A>C (n.*109-80A>C)
c.941A>C (p.Tyr314Ser)
c.1878A>C
c.*1032A>C (n.*1032A>C)
n.338A>C
c.1781A>C (p.Tyr594Ser)
c.1577A>C (p.Tyr526Ser)
c.1718A>C (p.Tyr573Ser)
c.1772A>C (p.Tyr591Ser)
c.1568A>C (p.Tyr523Ser)
7g.75985980A>GCA367750547PORc.1502A>G (p.Tyr501Cys)
c.1628A>G (p.Tyr543Cys)
c.1727A>G (p.Tyr576Cys)
c.*109-80A>G (n.*109-80A>G)
c.941A>G (p.Tyr314Cys)
c.1878A>G
c.*1032A>G (n.*1032A>G)
n.338A>G
c.1781A>G (p.Tyr594Cys)
c.1577A>G (p.Tyr526Cys)
c.1718A>G (p.Tyr573Cys)
c.1772A>G (p.Tyr591Cys)
c.1568A>G (p.Tyr523Cys)
 dbSNP gnomAD v4
7g.75985980A>TCA367750548PORc.1502A>T (p.Tyr501Phe)
c.1628A>T (p.Tyr543Phe)
c.1727A>T (p.Tyr576Phe)
c.*109-80A>T (n.*109-80A>T)
c.941A>T (p.Tyr314Phe)
c.1878A>T
c.*1032A>T (n.*1032A>T)
n.338A>T
c.1781A>T (p.Tyr594Phe)
c.1577A>T (p.Tyr526Phe)
c.1718A>T (p.Tyr573Phe)
c.1772A>T (p.Tyr591Phe)
c.1568A>T (p.Tyr523Phe)
7g.75985980dupCA575786102PORc.1502dup (p.Tyr501Ter)
c.1628dup (p.Tyr543Ter)
c.1727dup (p.Tyr576Ter)
c.*109-80dup (n.*109-80dup)
c.941dup (p.Tyr314Ter)
c.1878dup
c.*1032dup (n.*1032dup)
n.338dup
c.1781dup (p.Tyr594Ter)
c.1577dup (p.Tyr526Ter)
c.1718dup (p.Tyr573Ter)
c.1772dup (p.Tyr591Ter)
c.1568dup (p.Tyr523Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75985981C>ACA367750549PORc.1503C>A (p.Tyr501Ter)
c.1629C>A (p.Tyr543Ter)
c.1728C>A (p.Tyr576Ter)
c.*109-79C>A (n.*109-79C>A)
c.942C>A (p.Tyr314Ter)
c.1879C>A
c.*1033C>A (n.*1033C>A)
n.339C>A
c.1782C>A (p.Tyr594Ter)
c.1578C>A (p.Tyr526Ter)
c.1719C>A (p.Tyr573Ter)
c.1773C>A (p.Tyr591Ter)
c.1569C>A (p.Tyr523Ter)
 gnomAD v4
7g.75985981C>GCA367750550PORc.1503C>G (p.Tyr501Ter)
c.1629C>G (p.Tyr543Ter)
c.1728C>G (p.Tyr576Ter)
c.*109-79C>G (n.*109-79C>G)
c.942C>G (p.Tyr314Ter)
c.1879C>G
c.*1033C>G (n.*1033C>G)
n.339C>G
c.1782C>G (p.Tyr594Ter)
c.1578C>G (p.Tyr526Ter)
c.1719C>G (p.Tyr573Ter)
c.1773C>G (p.Tyr591Ter)
c.1569C>G (p.Tyr523Ter)
7g.75985981C>TCA456331392PORc.1503C>T (p.Tyr501=)
c.1629C>T (p.Tyr543=)
c.1728C>T (p.Tyr576=)
c.*109-79C>T (n.*109-79C>T)
c.942C>T (p.Tyr314=)
c.1879C>T
c.*1033C>T (n.*1033C>T)
n.339C>T
c.1782C>T (p.Tyr594=)
c.1578C>T (p.Tyr526=)
c.1719C>T (p.Tyr573=)
c.1773C>T (p.Tyr591=)
c.1569C>T (p.Tyr523=)
 gnomAD v4
7g.75985982C>ACA367750551PORc.1504C>A (p.Leu502Met)
c.1630C>A (p.Leu544Met)
c.1729C>A (p.Leu577Met)
c.*109-78C>A (n.*109-78C>A)
c.943C>A (p.Leu315Met)
c.1880C>A
c.*1034C>A (n.*1034C>A)
n.340C>A
c.1783C>A (p.Leu595Met)
c.1579C>A (p.Leu527Met)
c.1720C>A (p.Leu574Met)
c.1774C>A (p.Leu592Met)
c.1570C>A (p.Leu524Met)
 gnomAD v4
7g.75985982C>GCA367750552PORc.1504C>G (p.Leu502Val)
c.1630C>G (p.Leu544Val)
c.1729C>G (p.Leu577Val)
c.*109-78C>G (n.*109-78C>G)
c.943C>G (p.Leu315Val)
c.1880C>G
c.*1034C>G (n.*1034C>G)
n.340C>G
c.1783C>G (p.Leu595Val)
c.1579C>G (p.Leu527Val)
c.1720C>G (p.Leu574Val)
c.1774C>G (p.Leu592Val)
c.1570C>G (p.Leu524Val)
7g.75985982C>TCA456331393PORc.1504C>T (p.Leu502=)
c.1630C>T (p.Leu544=)
c.1729C>T (p.Leu577=)
c.*109-78C>T (n.*109-78C>T)
c.943C>T (p.Leu315=)
c.1880C>T
c.*1034C>T (n.*1034C>T)
n.340C>T
c.1783C>T (p.Leu595=)
c.1579C>T (p.Leu527=)
c.1720C>T (p.Leu574=)
c.1774C>T (p.Leu592=)
c.1570C>T (p.Leu524=)
 gnomAD v4
7g.75985983T>ACA367750553PORc.1505T>A (p.Leu502Gln)
c.1631T>A (p.Leu544Gln)
c.1730T>A (p.Leu577Gln)
c.*109-77T>A (n.*109-77T>A)
c.944T>A (p.Leu315Gln)
c.1881T>A
c.*1035T>A (n.*1035T>A)
n.341T>A
c.1784T>A (p.Leu595Gln)
c.1580T>A (p.Leu527Gln)
c.1721T>A (p.Leu574Gln)
c.1775T>A (p.Leu592Gln)
c.1571T>A (p.Leu524Gln)
7g.75985983T>CCA4304264PORc.1505T>C (p.Leu502Pro)
c.1631T>C (p.Leu544Pro)
c.1730T>C (p.Leu577Pro)
c.*109-77T>C (n.*109-77T>C)
c.944T>C (p.Leu315Pro)
c.1881T>C
c.*1035T>C (n.*1035T>C)
n.341T>C
c.1784T>C (p.Leu595Pro)
c.1580T>C (p.Leu527Pro)
c.1721T>C (p.Leu574Pro)
c.1775T>C (p.Leu592Pro)
c.1571T>C (p.Leu524Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985983T>GCA367750554PORc.1505T>G (p.Leu502Arg)
c.1631T>G (p.Leu544Arg)
c.1730T>G (p.Leu577Arg)
c.*109-77T>G (n.*109-77T>G)
c.944T>G (p.Leu315Arg)
c.1881T>G
c.*1035T>G (n.*1035T>G)
n.341T>G
c.1784T>G (p.Leu595Arg)
c.1580T>G (p.Leu527Arg)
c.1721T>G (p.Leu574Arg)
c.1775T>G (p.Leu592Arg)
c.1571T>G (p.Leu524Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75985983T=CA1718180461PORc.1505T= (p.Leu502=)
c.1631T= (p.Leu544=)
c.1730T= (p.Leu577=)
c.*109-77T= (n.*109-77T=)
c.944T= (p.Leu315=)
c.1881T=
c.*1035T= (n.*1035T=)
n.341T=
c.1784T= (p.Leu595=)
c.1580T= (p.Leu527=)
c.1721T= (p.Leu574=)
c.1775T= (p.Leu592=)
c.1571T= (p.Leu524=)
7g.75985984G>ACA456331394PORc.1506G>A (p.Leu502=)
c.1632G>A (p.Leu544=)
c.1731G>A (p.Leu577=)
c.*109-76G>A (n.*109-76G>A)
c.945G>A (p.Leu315=)
c.1882G>A
c.*1036G>A (n.*1036G>A)
n.342G>A
c.1785G>A (p.Leu595=)
c.1581G>A (p.Leu527=)
c.1722G>A (p.Leu574=)
c.1776G>A (p.Leu592=)
c.1572G>A (p.Leu524=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.75985984G>CCA456331395PORc.1506G>C (p.Leu502=)
c.1632G>C (p.Leu544=)
c.1731G>C (p.Leu577=)
c.*109-76G>C (n.*109-76G>C)
c.945G>C (p.Leu315=)
c.1882G>C
c.*1036G>C (n.*1036G>C)
n.342G>C
c.1785G>C (p.Leu595=)
c.1581G>C (p.Leu527=)
c.1722G>C (p.Leu574=)
c.1776G>C (p.Leu592=)
c.1572G>C (p.Leu524=)
 gnomAD v4
7g.75985984G=CA1718180462PORc.1506G= (p.Leu502=)
c.1632G= (p.Leu544=)
c.1731G= (p.Leu577=)
c.*109-76G= (n.*109-76G=)
c.945G= (p.Leu315=)
c.1882G=
c.*1036G= (n.*1036G=)
n.342G=
c.1785G= (p.Leu595=)
c.1581G= (p.Leu527=)
c.1722G= (p.Leu574=)
c.1776G= (p.Leu592=)
c.1572G= (p.Leu524=)
7g.75985984G>TCA456331396PORc.1506G>T (p.Leu502=)
c.1632G>T (p.Leu544=)
c.1731G>T (p.Leu577=)
c.*109-76G>T (n.*109-76G>T)
c.945G>T (p.Leu315=)
c.1882G>T
c.*1036G>T (n.*1036G>T)
n.342G>T
c.1785G>T (p.Leu595=)
c.1581G>T (p.Leu527=)
c.1722G>T (p.Leu574=)
c.1776G>T (p.Leu592=)
c.1572G>T (p.Leu524=)
 gnomAD v4
7g.75985985T>ACA367750555PORc.1507T>A (p.Tyr503Asn)
c.1633T>A (p.Tyr545Asn)
c.1732T>A (p.Tyr578Asn)
c.*109-75T>A (n.*109-75T>A)
c.946T>A (p.Tyr316Asn)
c.1883T>A
c.*1037T>A (n.*1037T>A)
n.343T>A
c.1786T>A (p.Tyr596Asn)
c.1582T>A (p.Tyr528Asn)
c.1723T>A (p.Tyr575Asn)
c.1777T>A (p.Tyr593Asn)
c.1573T>A (p.Tyr525Asn)
7g.75985985T>CCA367750557PORc.1507T>C (p.Tyr503His)
c.1633T>C (p.Tyr545His)
c.1732T>C (p.Tyr578His)
c.*109-75T>C (n.*109-75T>C)
c.946T>C (p.Tyr316His)
c.1883T>C
c.*1037T>C (n.*1037T>C)
n.343T>C
c.1786T>C (p.Tyr596His)
c.1582T>C (p.Tyr528His)
c.1723T>C (p.Tyr575His)
c.1777T>C (p.Tyr593His)
c.1573T>C (p.Tyr525His)
 dbSNP gnomAD v4
7g.75985985T>GCA367750556PORc.1507T>G (p.Tyr503Asp)
c.1633T>G (p.Tyr545Asp)
c.1732T>G (p.Tyr578Asp)
c.*109-75T>G (n.*109-75T>G)
c.946T>G (p.Tyr316Asp)
c.1883T>G
c.*1037T>G (n.*1037T>G)
n.343T>G
c.1786T>G (p.Tyr596Asp)
c.1582T>G (p.Tyr528Asp)
c.1723T>G (p.Tyr575Asp)
c.1777T>G (p.Tyr593Asp)
c.1573T>G (p.Tyr525Asp)
7g.75985985T=CA1718180463PORc.1507T= (p.Tyr503=)
c.1633T= (p.Tyr545=)
c.1732T= (p.Tyr578=)
c.*109-75T= (n.*109-75T=)
c.946T= (p.Tyr316=)
c.1883T=
c.*1037T= (n.*1037T=)
n.343T=
c.1786T= (p.Tyr596=)
c.1582T= (p.Tyr528=)
c.1723T= (p.Tyr575=)
c.1777T= (p.Tyr593=)
c.1573T= (p.Tyr525=)
7g.75985986A=CA1718180464PORc.1508A= (p.Tyr503=)
c.1634A= (p.Tyr545=)
c.1733A= (p.Tyr578=)
c.*109-74A= (n.*109-74A=)
c.947A= (p.Tyr316=)
c.1884A=
c.*1038A= (n.*1038A=)
n.344A=
c.1787A= (p.Tyr596=)
c.1583A= (p.Tyr528=)
c.1724A= (p.Tyr575=)
c.1778A= (p.Tyr593=)
c.1574A= (p.Tyr525=)
7g.75985986A>CCA367750558PORc.1508A>C (p.Tyr503Ser)
c.1634A>C (p.Tyr545Ser)
c.1733A>C (p.Tyr578Ser)
c.*109-74A>C (n.*109-74A>C)
c.947A>C (p.Tyr316Ser)
c.1884A>C
c.*1038A>C (n.*1038A>C)
n.344A>C
c.1787A>C (p.Tyr596Ser)
c.1583A>C (p.Tyr528Ser)
c.1724A>C (p.Tyr575Ser)
c.1778A>C (p.Tyr593Ser)
c.1574A>C (p.Tyr525Ser)
7g.75985986A>GCA257665PORc.1508A>G (p.Tyr503Cys)
c.1634A>G (p.Tyr545Cys)
c.1733A>G (p.Tyr578Cys)
c.*109-74A>G (n.*109-74A>G)
c.947A>G (p.Tyr316Cys)
c.1884A>G
c.*1038A>G (n.*1038A>G)
n.344A>G
c.1787A>G (p.Tyr596Cys)
c.1583A>G (p.Tyr528Cys)
c.1724A>G (p.Tyr575Cys)
c.1778A>G (p.Tyr593Cys)
c.1574A>G (p.Tyr525Cys)
 ClinVar dbSNP
7g.75985986A>TCA367750559PORc.1508A>T (p.Tyr503Phe)
c.1634A>T (p.Tyr545Phe)
c.1733A>T (p.Tyr578Phe)
c.*109-74A>T (n.*109-74A>T)
c.947A>T (p.Tyr316Phe)
c.1884A>T
c.*1038A>T (n.*1038A>T)
n.344A>T
c.1787A>T (p.Tyr596Phe)
c.1583A>T (p.Tyr528Phe)
c.1724A>T (p.Tyr575Phe)
c.1778A>T (p.Tyr593Phe)
c.1574A>T (p.Tyr525Phe)
 gnomAD v4
7g.75985987C>ACA367750560PORc.1509C>A (p.Tyr503Ter)
c.1635C>A (p.Tyr545Ter)
c.1734C>A (p.Tyr578Ter)
c.*109-73C>A (n.*109-73C>A)
c.948C>A (p.Tyr316Ter)
c.1885C>A
c.*1039C>A (n.*1039C>A)
n.345C>A
c.1788C>A (p.Tyr596Ter)
c.1584C>A (p.Tyr528Ter)
c.1725C>A (p.Tyr575Ter)
c.1779C>A (p.Tyr593Ter)
c.1575C>A (p.Tyr525Ter)
 gnomAD v4
7g.75985987C=CA1718180465PORc.1509C= (p.Tyr503=)
c.1635C= (p.Tyr545=)
c.1734C= (p.Tyr578=)
c.*109-73C= (n.*109-73C=)
c.948C= (p.Tyr316=)
c.1885C=
c.*1039C= (n.*1039C=)
n.345C=
c.1788C= (p.Tyr596=)
c.1584C= (p.Tyr528=)
c.1725C= (p.Tyr575=)
c.1779C= (p.Tyr593=)
c.1575C= (p.Tyr525=)
7g.75985987C>GCA367750561PORc.1509C>G (p.Tyr503Ter)
c.1635C>G (p.Tyr545Ter)
c.1734C>G (p.Tyr578Ter)
c.*109-73C>G (n.*109-73C>G)
c.948C>G (p.Tyr316Ter)
c.1885C>G
c.*1039C>G (n.*1039C>G)
n.345C>G
c.1788C>G (p.Tyr596Ter)
c.1584C>G (p.Tyr528Ter)
c.1725C>G (p.Tyr575Ter)
c.1779C>G (p.Tyr593Ter)
c.1575C>G (p.Tyr525Ter)
7g.75985987C>TCA456331398PORc.1509C>T (p.Tyr503=)
c.1635C>T (p.Tyr545=)
c.1734C>T (p.Tyr578=)
c.*109-73C>T (n.*109-73C>T)
c.948C>T (p.Tyr316=)
c.1885C>T
c.*1039C>T (n.*1039C>T)
n.345C>T
c.1788C>T (p.Tyr596=)
c.1584C>T (p.Tyr528=)
c.1725C>T (p.Tyr575=)
c.1779C>T (p.Tyr593=)
c.1575C>T (p.Tyr525=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75985988C>ACA456331399PORc.1510C>A (p.Arg504=)
c.1636C>A (p.Arg546=)
c.1735C>A (p.Arg579=)
c.*109-72C>A (n.*109-72C>A)
c.949C>A (p.Arg317=)
c.1886C>A
c.*1040C>A (n.*1040C>A)
n.346C>A
c.1789C>A (p.Arg597=)
c.1585C>A (p.Arg529=)
c.1726C>A (p.Arg576=)
c.1780C>A (p.Arg594=)
c.1576C>A (p.Arg526=)
 gnomAD v4
7g.75985988C=CA1718180466PORc.1510C= (p.Arg504=)
c.1636C= (p.Arg546=)
c.1735C= (p.Arg579=)
c.*109-72C= (n.*109-72C=)
c.949C= (p.Arg317=)
c.1886C=
c.*1040C= (n.*1040C=)
n.346C=
c.1789C= (p.Arg597=)
c.1585C= (p.Arg529=)
c.1726C= (p.Arg576=)
c.1780C= (p.Arg594=)
c.1576C= (p.Arg526=)
7g.75985988C>GCA367750562PORc.1510C>G (p.Arg504Gly)
c.1636C>G (p.Arg546Gly)
c.1735C>G (p.Arg579Gly)
c.*109-72C>G (n.*109-72C>G)
c.949C>G (p.Arg317Gly)
c.1886C>G
c.*1040C>G (n.*1040C>G)
n.346C>G
c.1789C>G (p.Arg597Gly)
c.1585C>G (p.Arg529Gly)
c.1726C>G (p.Arg576Gly)
c.1780C>G (p.Arg594Gly)
c.1576C>G (p.Arg526Gly)
7g.75985988C>TCA367750563PORc.1510C>T (p.Arg504Trp)
c.1636C>T (p.Arg546Trp)
c.1735C>T (p.Arg579Trp)
c.*109-72C>T (n.*109-72C>T)
c.949C>T (p.Arg317Trp)
c.1886C>T
c.*1040C>T (n.*1040C>T)
n.346C>T
c.1789C>T (p.Arg597Trp)
c.1585C>T (p.Arg529Trp)
c.1726C>T (p.Arg576Trp)
c.1780C>T (p.Arg594Trp)
c.1576C>T (p.Arg526Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75985989G>ACA4304265PORc.1511G>A (p.Arg504Gln)
c.1637G>A (p.Arg546Gln)
c.1736G>A (p.Arg579Gln)
c.*109-71G>A (n.*109-71G>A)
c.950G>A (p.Arg317Gln)
c.1887G>A
c.*1041G>A (n.*1041G>A)
n.347G>A
c.1790G>A (p.Arg597Gln)
c.1586G>A (p.Arg529Gln)
c.1727G>A (p.Arg576Gln)
c.1781G>A (p.Arg594Gln)
c.1577G>A (p.Arg526Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985989G>CCA4304266PORc.1511G>C (p.Arg504Pro)
c.1637G>C (p.Arg546Pro)
c.1736G>C (p.Arg579Pro)
c.*109-71G>C (n.*109-71G>C)
c.950G>C (p.Arg317Pro)
c.1887G>C
c.*1041G>C (n.*1041G>C)
n.347G>C
c.1790G>C (p.Arg597Pro)
c.1586G>C (p.Arg529Pro)
c.1727G>C (p.Arg576Pro)
c.1781G>C (p.Arg594Pro)
c.1577G>C (p.Arg526Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985989G=CA1718180467PORc.1511G= (p.Arg504=)
c.1637G= (p.Arg546=)
c.1736G= (p.Arg579=)
c.*109-71G= (n.*109-71G=)
c.950G= (p.Arg317=)
c.1887G=
c.*1041G= (n.*1041G=)
n.347G=
c.1790G= (p.Arg597=)
c.1586G= (p.Arg529=)
c.1727G= (p.Arg576=)
c.1781G= (p.Arg594=)
c.1577G= (p.Arg526=)
7g.75985989G>TCA367750564PORc.1511G>T (p.Arg504Leu)
c.1637G>T (p.Arg546Leu)
c.1736G>T (p.Arg579Leu)
c.*109-71G>T (n.*109-71G>T)
c.950G>T (p.Arg317Leu)
c.1887G>T
c.*1041G>T (n.*1041G>T)
n.347G>T
c.1790G>T (p.Arg597Leu)
c.1586G>T (p.Arg529Leu)
c.1727G>T (p.Arg576Leu)
c.1781G>T (p.Arg594Leu)
c.1577G>T (p.Arg526Leu)
 dbSNP gnomAD v2 gnomAD v4
7g.75985990G>ACA456331400PORc.1512G>A (p.Arg504=)
c.1638G>A (p.Arg546=)
c.1737G>A (p.Arg579=)
c.*109-70G>A (n.*109-70G>A)
c.951G>A (p.Arg317=)
c.1888G>A
c.*1042G>A (n.*1042G>A)
n.348G>A
c.1791G>A (p.Arg597=)
c.1587G>A (p.Arg529=)
c.1728G>A (p.Arg576=)
c.1782G>A (p.Arg594=)
c.1578G>A (p.Arg526=)
 gnomAD v4
7g.75985990G>CCA456331401PORc.1512G>C (p.Arg504=)
c.1638G>C (p.Arg546=)
c.1737G>C (p.Arg579=)
c.*109-70G>C (n.*109-70G>C)
c.951G>C (p.Arg317=)
c.1888G>C
c.*1042G>C (n.*1042G>C)
n.348G>C
c.1791G>C (p.Arg597=)
c.1587G>C (p.Arg529=)
c.1728G>C (p.Arg576=)
c.1782G>C (p.Arg594=)
c.1578G>C (p.Arg526=)
7g.75985990G>TCA456331403PORc.1512G>T (p.Arg504=)
c.1638G>T (p.Arg546=)
c.1737G>T (p.Arg579=)
c.*109-70G>T (n.*109-70G>T)
c.951G>T (p.Arg317=)
c.1888G>T
c.*1042G>T (n.*1042G>T)
n.348G>T
c.1791G>T (p.Arg597=)
c.1587G>T (p.Arg529=)
c.1728G>T (p.Arg576=)
c.1782G>T (p.Arg594=)
c.1578G>T (p.Arg526=)
 gnomAD v4
7g.75985991G>ACA367750565PORc.1513G>A (p.Glu505Lys)
c.1639G>A (p.Glu547Lys)
c.1738G>A (p.Glu580Lys)
c.*109-69G>A (n.*109-69G>A)
c.952G>A (p.Glu318Lys)
c.1889G>A
c.*1043G>A (n.*1043G>A)
n.349G>A
c.1792G>A (p.Glu598Lys)
c.1588G>A (p.Glu530Lys)
c.1729G>A (p.Glu577Lys)
c.1783G>A (p.Glu595Lys)
c.1579G>A (p.Glu527Lys)
7g.75985991G>CCA4304267PORc.1513G>C (p.Glu505Gln)
c.1639G>C (p.Glu547Gln)
c.1738G>C (p.Glu580Gln)
c.*109-69G>C (n.*109-69G>C)
c.952G>C (p.Glu318Gln)
c.1889G>C
c.*1043G>C (n.*1043G>C)
n.349G>C
c.1792G>C (p.Glu598Gln)
c.1588G>C (p.Glu530Gln)
c.1729G>C (p.Glu577Gln)
c.1783G>C (p.Glu595Gln)
c.1579G>C (p.Glu527Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985991G=CA1718180468PORc.1513G= (p.Glu505=)
c.1639G= (p.Glu547=)
c.1738G= (p.Glu580=)
c.*109-69G= (n.*109-69G=)
c.952G= (p.Glu318=)
c.1889G=
c.*1043G= (n.*1043G=)
n.349G=
c.1792G= (p.Glu598=)
c.1588G= (p.Glu530=)
c.1729G= (p.Glu577=)
c.1783G= (p.Glu595=)
c.1579G= (p.Glu527=)
7g.75985991G>TCA367750566PORc.1513G>T (p.Glu505Ter)
c.1639G>T (p.Glu547Ter)
c.1738G>T (p.Glu580Ter)
c.*109-69G>T (n.*109-69G>T)
c.952G>T (p.Glu318Ter)
c.1889G>T
c.*1043G>T (n.*1043G>T)
n.349G>T
c.1792G>T (p.Glu598Ter)
c.1588G>T (p.Glu530Ter)
c.1729G>T (p.Glu577Ter)
c.1783G>T (p.Glu595Ter)
c.1579G>T (p.Glu527Ter)
 gnomAD v4
7g.75985992A>CCA367750567PORc.1514A>C (p.Glu505Ala)
c.1640A>C (p.Glu547Ala)
c.1739A>C (p.Glu580Ala)
c.*109-68A>C (n.*109-68A>C)
c.953A>C (p.Glu318Ala)
c.1890A>C
c.*1044A>C (n.*1044A>C)
n.350A>C
c.1793A>C (p.Glu598Ala)
c.1589A>C (p.Glu530Ala)
c.1730A>C (p.Glu577Ala)
c.1784A>C (p.Glu595Ala)
c.1580A>C (p.Glu527Ala)
7g.75985992A>GCA367750569PORc.1514A>G (p.Glu505Gly)
c.1640A>G (p.Glu547Gly)
c.1739A>G (p.Glu580Gly)
c.*109-68A>G (n.*109-68A>G)
c.953A>G (p.Glu318Gly)
c.1890A>G
c.*1044A>G (n.*1044A>G)
n.350A>G
c.1793A>G (p.Glu598Gly)
c.1589A>G (p.Glu530Gly)
c.1730A>G (p.Glu577Gly)
c.1784A>G (p.Glu595Gly)
c.1580A>G (p.Glu527Gly)
 gnomAD v4
7g.75985992A>TCA367750568PORc.1514A>T (p.Glu505Val)
c.1640A>T (p.Glu547Val)
c.1739A>T (p.Glu580Val)
c.*109-68A>T (n.*109-68A>T)
c.953A>T (p.Glu318Val)
c.1890A>T
c.*1044A>T (n.*1044A>T)
n.350A>T
c.1793A>T (p.Glu598Val)
c.1589A>T (p.Glu530Val)
c.1730A>T (p.Glu577Val)
c.1784A>T (p.Glu595Val)
c.1580A>T (p.Glu527Val)
 gnomAD v3 gnomAD v4
7g.75985993G>ACA456331407PORc.1515G>A (p.Glu505=)
c.1641G>A (p.Glu547=)
c.1740G>A (p.Glu580=)
c.*109-67G>A (n.*109-67G>A)
c.954G>A (p.Glu318=)
c.1891G>A
c.*1045G>A (n.*1045G>A)
n.351G>A
c.1794G>A (p.Glu598=)
c.1590G>A (p.Glu530=)
c.1731G>A (p.Glu577=)
c.1785G>A (p.Glu595=)
c.1581G>A (p.Glu527=)
 ClinVar
7g.75985993G>CCA367750570PORc.1515G>C (p.Glu505Asp)
c.1641G>C (p.Glu547Asp)
c.1740G>C (p.Glu580Asp)
c.*109-67G>C (n.*109-67G>C)
c.954G>C (p.Glu318Asp)
c.1891G>C
c.*1045G>C (n.*1045G>C)
n.351G>C
c.1794G>C (p.Glu598Asp)
c.1590G>C (p.Glu530Asp)
c.1731G>C (p.Glu577Asp)
c.1785G>C (p.Glu595Asp)
c.1581G>C (p.Glu527Asp)
7g.75985993G>TCA367750571PORc.1515G>T (p.Glu505Asp)
c.1641G>T (p.Glu547Asp)
c.1740G>T (p.Glu580Asp)
c.*109-67G>T (n.*109-67G>T)
c.954G>T (p.Glu318Asp)
c.1891G>T
c.*1045G>T (n.*1045G>T)
n.351G>T
c.1794G>T (p.Glu598Asp)
c.1590G>T (p.Glu530Asp)
c.1731G>T (p.Glu577Asp)
c.1785G>T (p.Glu595Asp)
c.1581G>T (p.Glu527Asp)
 gnomAD v4
7g.75985994G>ACA367750572PORc.1516G>A (p.Glu506Lys)
c.1642G>A (p.Glu548Lys)
c.1741G>A (p.Glu581Lys)
c.*109-66G>A (n.*109-66G>A)
c.955G>A (p.Glu319Lys)
c.1892G>A
c.*1046G>A (n.*1046G>A)
n.352G>A
c.1795G>A (p.Glu599Lys)
c.1591G>A (p.Glu531Lys)
c.1732G>A (p.Glu578Lys)
c.1786G>A (p.Glu596Lys)
c.1582G>A (p.Glu528Lys)
7g.75985994G>CCA367750573PORc.1516G>C (p.Glu506Gln)
c.1642G>C (p.Glu548Gln)
c.1741G>C (p.Glu581Gln)
c.*109-66G>C (n.*109-66G>C)
c.955G>C (p.Glu319Gln)
c.1892G>C
c.*1046G>C (n.*1046G>C)
n.352G>C
c.1795G>C (p.Glu599Gln)
c.1591G>C (p.Glu531Gln)
c.1732G>C (p.Glu578Gln)
c.1786G>C (p.Glu596Gln)
c.1582G>C (p.Glu528Gln)
7g.75985994G>TCA367750574PORc.1516G>T (p.Glu506Ter)
c.1642G>T (p.Glu548Ter)
c.1741G>T (p.Glu581Ter)
c.*109-66G>T (n.*109-66G>T)
c.955G>T (p.Glu319Ter)
c.1892G>T
c.*1046G>T (n.*1046G>T)
n.352G>T
c.1795G>T (p.Glu599Ter)
c.1591G>T (p.Glu531Ter)
c.1732G>T (p.Glu578Ter)
c.1786G>T (p.Glu596Ter)
c.1582G>T (p.Glu528Ter)
7g.75985995A>CCA367750575PORc.1517A>C (p.Glu506Ala)
c.1643A>C (p.Glu548Ala)
c.1742A>C (p.Glu581Ala)
c.*109-65A>C (n.*109-65A>C)
c.956A>C (p.Glu319Ala)
c.1893A>C
c.*1047A>C (n.*1047A>C)
n.353A>C
c.1796A>C (p.Glu599Ala)
c.1592A>C (p.Glu531Ala)
c.1733A>C (p.Glu578Ala)
c.1787A>C (p.Glu596Ala)
c.1583A>C (p.Glu528Ala)
7g.75985995A>GCA367750576PORc.1517A>G (p.Glu506Gly)
c.1643A>G (p.Glu548Gly)
c.1742A>G (p.Glu581Gly)
c.*109-65A>G (n.*109-65A>G)
c.956A>G (p.Glu319Gly)
c.1893A>G
c.*1047A>G (n.*1047A>G)
n.353A>G
c.1796A>G (p.Glu599Gly)
c.1592A>G (p.Glu531Gly)
c.1733A>G (p.Glu578Gly)
c.1787A>G (p.Glu596Gly)
c.1583A>G (p.Glu528Gly)
 gnomAD v3 gnomAD v4
7g.75985995A>TCA367750577PORc.1517A>T (p.Glu506Val)
c.1643A>T (p.Glu548Val)
c.1742A>T (p.Glu581Val)
c.*109-65A>T (n.*109-65A>T)
c.956A>T (p.Glu319Val)
c.1893A>T
c.*1047A>T (n.*1047A>T)
n.353A>T
c.1796A>T (p.Glu599Val)
c.1592A>T (p.Glu531Val)
c.1733A>T (p.Glu578Val)
c.1787A>T (p.Glu596Val)
c.1583A>T (p.Glu528Val)
7g.75985996G>ACA456331412PORc.1518G>A (p.Glu506=)
c.1644G>A (p.Glu548=)
c.1743G>A (p.Glu581=)
c.*109-64G>A (n.*109-64G>A)
c.957G>A (p.Glu319=)
c.1894G>A
c.*1048G>A (n.*1048G>A)
n.354G>A
c.1797G>A (p.Glu599=)
c.1593G>A (p.Glu531=)
c.1734G>A (p.Glu578=)
c.1788G>A (p.Glu596=)
c.1584G>A (p.Glu528=)
7g.75985996G>CCA367750578PORc.1518G>C (p.Glu506Asp)
c.1644G>C (p.Glu548Asp)
c.1743G>C (p.Glu581Asp)
c.*109-64G>C (n.*109-64G>C)
c.957G>C (p.Glu319Asp)
c.1894G>C
c.*1048G>C (n.*1048G>C)
n.354G>C
c.1797G>C (p.Glu599Asp)
c.1593G>C (p.Glu531Asp)
c.1734G>C (p.Glu578Asp)
c.1788G>C (p.Glu596Asp)
c.1584G>C (p.Glu528Asp)
7g.75985996G=CA1718180469PORc.1518G= (p.Glu506=)
c.1644G= (p.Glu548=)
c.1743G= (p.Glu581=)
c.*109-64G= (n.*109-64G=)
c.957G= (p.Glu319=)
c.1894G=
c.*1048G= (n.*1048G=)
n.354G=
c.1797G= (p.Glu599=)
c.1593G= (p.Glu531=)
c.1734G= (p.Glu578=)
c.1788G= (p.Glu596=)
c.1584G= (p.Glu528=)
7g.75985996G>TCA367750579PORc.1518G>T (p.Glu506Asp)
c.1644G>T (p.Glu548Asp)
c.1743G>T (p.Glu581Asp)
c.*109-64G>T (n.*109-64G>T)
c.957G>T (p.Glu319Asp)
c.1894G>T
c.*1048G>T (n.*1048G>T)
n.354G>T
c.1797G>T (p.Glu599Asp)
c.1593G>T (p.Glu531Asp)
c.1734G>T (p.Glu578Asp)
c.1788G>T (p.Glu596Asp)
c.1584G>T (p.Glu528Asp)
 dbSNP gnomAD v4
7g.75985997C>ACA367750581PORc.1519C>A (p.Leu507Met)
c.1645C>A (p.Leu549Met)
c.1744C>A (p.Leu582Met)
c.*109-63C>A (n.*109-63C>A)
c.958C>A (p.Leu320Met)
c.1895C>A
c.*1049C>A (n.*1049C>A)
n.355C>A
c.1798C>A (p.Leu600Met)
c.1594C>A (p.Leu532Met)
c.1735C>A (p.Leu579Met)
c.1789C>A (p.Leu597Met)
c.1585C>A (p.Leu529Met)
 gnomAD v4
7g.75985997C>GCA367750580PORc.1519C>G (p.Leu507Val)
c.1645C>G (p.Leu549Val)
c.1744C>G (p.Leu582Val)
c.*109-63C>G (n.*109-63C>G)
c.958C>G (p.Leu320Val)
c.1895C>G
c.*1049C>G (n.*1049C>G)
n.355C>G
c.1798C>G (p.Leu600Val)
c.1594C>G (p.Leu532Val)
c.1735C>G (p.Leu579Val)
c.1789C>G (p.Leu597Val)
c.1585C>G (p.Leu529Val)
7g.75985997C>TCA456331416PORc.1519C>T (p.Leu507=)
c.1645C>T (p.Leu549=)
c.1744C>T (p.Leu582=)
c.*109-63C>T (n.*109-63C>T)
c.958C>T (p.Leu320=)
c.1895C>T
c.*1049C>T (n.*1049C>T)
n.355C>T
c.1798C>T (p.Leu600=)
c.1594C>T (p.Leu532=)
c.1735C>T (p.Leu579=)
c.1789C>T (p.Leu597=)
c.1585C>T (p.Leu529=)
7g.75985998T>ACA367750582PORc.1520T>A (p.Leu507Gln)
c.1646T>A (p.Leu549Gln)
c.1745T>A (p.Leu582Gln)
c.*109-62T>A (n.*109-62T>A)
c.959T>A (p.Leu320Gln)
c.1896T>A
c.*1050T>A (n.*1050T>A)
n.356T>A
c.1799T>A (p.Leu600Gln)
c.1595T>A (p.Leu532Gln)
c.1736T>A (p.Leu579Gln)
c.1790T>A (p.Leu597Gln)
c.1586T>A (p.Leu529Gln)
7g.75985998T>CCA367750583PORc.1520T>C (p.Leu507Pro)
c.1646T>C (p.Leu549Pro)
c.1745T>C (p.Leu582Pro)
c.*109-62T>C (n.*109-62T>C)
c.959T>C (p.Leu320Pro)
c.1896T>C
c.*1050T>C (n.*1050T>C)
n.356T>C
c.1799T>C (p.Leu600Pro)
c.1595T>C (p.Leu532Pro)
c.1736T>C (p.Leu579Pro)
c.1790T>C (p.Leu597Pro)
c.1586T>C (p.Leu529Pro)
7g.75985998T>GCA367750584PORc.1520T>G (p.Leu507Arg)
c.1646T>G (p.Leu549Arg)
c.1745T>G (p.Leu582Arg)
c.*109-62T>G (n.*109-62T>G)
c.959T>G (p.Leu320Arg)
c.1896T>G
c.*1050T>G (n.*1050T>G)
n.356T>G
c.1799T>G (p.Leu600Arg)
c.1595T>G (p.Leu532Arg)
c.1736T>G (p.Leu579Arg)
c.1790T>G (p.Leu597Arg)
c.1586T>G (p.Leu529Arg)
7g.75985999G>ACA456331423PORc.1521G>A (p.Leu507=)
c.1647G>A (p.Leu549=)
c.1746G>A (p.Leu582=)
c.*109-61G>A (n.*109-61G>A)
c.960G>A (p.Leu320=)
c.1897G>A
c.*1051G>A (n.*1051G>A)
n.357G>A
c.1800G>A (p.Leu600=)
c.1596G>A (p.Leu532=)
c.1737G>A (p.Leu579=)
c.1791G>A (p.Leu597=)
c.1587G>A (p.Leu529=)
 gnomAD v4
7g.75985999G>CCA456331424PORc.1521G>C (p.Leu507=)
c.1647G>C (p.Leu549=)
c.1746G>C (p.Leu582=)
c.*109-61G>C (n.*109-61G>C)
c.960G>C (p.Leu320=)
c.1897G>C
c.*1051G>C (n.*1051G>C)
n.357G>C
c.1800G>C (p.Leu600=)
c.1596G>C (p.Leu532=)
c.1737G>C (p.Leu579=)
c.1791G>C (p.Leu597=)
c.1587G>C (p.Leu529=)
7g.75985999G>TCA456331425PORc.1521G>T (p.Leu507=)
c.1647G>T (p.Leu549=)
c.1746G>T (p.Leu582=)
c.*109-61G>T (n.*109-61G>T)
c.960G>T (p.Leu320=)
c.1897G>T
c.*1051G>T (n.*1051G>T)
n.357G>T
c.1800G>T (p.Leu600=)
c.1596G>T (p.Leu532=)
c.1737G>T (p.Leu579=)
c.1791G>T (p.Leu597=)
c.1587G>T (p.Leu529=)
 gnomAD v4
7g.75986000G>ACA367750585PORc.1522G>A (p.Ala508Thr)
c.1648G>A (p.Ala550Thr)
c.1747G>A (p.Ala583Thr)
c.*109-60G>A (n.*109-60G>A)
c.961G>A (p.Ala321Thr)
c.1898G>A
c.*1052G>A (n.*1052G>A)
n.358G>A
c.1801G>A (p.Ala601Thr)
c.1597G>A (p.Ala533Thr)
c.1738G>A (p.Ala580Thr)
c.1792G>A (p.Ala598Thr)
c.1588G>A (p.Ala530Thr)
 gnomAD v4
7g.75986000G>CCA367750586PORc.1522G>C (p.Ala508Pro)
c.1648G>C (p.Ala550Pro)
c.1747G>C (p.Ala583Pro)
c.*109-60G>C (n.*109-60G>C)
c.961G>C (p.Ala321Pro)
c.1898G>C
c.*1052G>C (n.*1052G>C)
n.358G>C
c.1801G>C (p.Ala601Pro)
c.1597G>C (p.Ala533Pro)
c.1738G>C (p.Ala580Pro)
c.1792G>C (p.Ala598Pro)
c.1588G>C (p.Ala530Pro)
 dbSNP
7g.75986000G=CA1718180470PORc.1522G= (p.Ala508=)
c.1648G= (p.Ala550=)
c.1747G= (p.Ala583=)
c.*109-60G= (n.*109-60G=)
c.961G= (p.Ala321=)
c.1898G=
c.*1052G= (n.*1052G=)
n.358G=
c.1801G= (p.Ala601=)
c.1597G= (p.Ala533=)
c.1738G= (p.Ala580=)
c.1792G= (p.Ala598=)
c.1588G= (p.Ala530=)
7g.75986000G>TCA367750587PORc.1522G>T (p.Ala508Ser)
c.1648G>T (p.Ala550Ser)
c.1747G>T (p.Ala583Ser)
c.*109-60G>T (n.*109-60G>T)
c.961G>T (p.Ala321Ser)
c.1898G>T
c.*1052G>T (n.*1052G>T)
n.358G>T
c.1801G>T (p.Ala601Ser)
c.1597G>T (p.Ala533Ser)
c.1738G>T (p.Ala580Ser)
c.1792G>T (p.Ala598Ser)
c.1588G>T (p.Ala530Ser)
 gnomAD v4
7g.75986001C>ACA367750588PORc.1523C>A (p.Ala508Glu)
c.1649C>A (p.Ala550Glu)
c.1748C>A (p.Ala583Glu)
c.*109-59C>A (n.*109-59C>A)
c.962C>A (p.Ala321Glu)
c.1899C>A
c.*1053C>A (n.*1053C>A)
n.359C>A
c.1802C>A (p.Ala601Glu)
c.1598C>A (p.Ala533Glu)
c.1739C>A (p.Ala580Glu)
c.1793C>A (p.Ala598Glu)
c.1589C>A (p.Ala530Glu)
 gnomAD v4
7g.75986001C=CA1718180471PORc.1523C= (p.Ala508=)
c.1649C= (p.Ala550=)
c.1748C= (p.Ala583=)
c.*109-59C= (n.*109-59C=)
c.962C= (p.Ala321=)
c.1899C=
c.*1053C= (n.*1053C=)
n.359C=
c.1802C= (p.Ala601=)
c.1598C= (p.Ala533=)
c.1739C= (p.Ala580=)
c.1793C= (p.Ala598=)
c.1589C= (p.Ala530=)
7g.75986001C>GCA367750589PORc.1523C>G (p.Ala508Gly)
c.1649C>G (p.Ala550Gly)
c.1748C>G (p.Ala583Gly)
c.*109-59C>G (n.*109-59C>G)
c.962C>G (p.Ala321Gly)
c.1899C>G
c.*1053C>G (n.*1053C>G)
n.359C>G
c.1802C>G (p.Ala601Gly)
c.1598C>G (p.Ala533Gly)
c.1739C>G (p.Ala580Gly)
c.1793C>G (p.Ala598Gly)
c.1589C>G (p.Ala530Gly)
7g.75986001C>TCA367750590PORc.1523C>T (p.Ala508Val)
c.1649C>T (p.Ala550Val)
c.1748C>T (p.Ala583Val)
c.*109-59C>T (n.*109-59C>T)
c.962C>T (p.Ala321Val)
c.1899C>T
c.*1053C>T (n.*1053C>T)
n.359C>T
c.1802C>T (p.Ala601Val)
c.1598C>T (p.Ala533Val)
c.1739C>T (p.Ala580Val)
c.1793C>T (p.Ala598Val)
c.1589C>T (p.Ala530Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched