OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.74180134G>A | CA7654381 | STRA6 | c.1950C>T (p.Thr650=) c.1926C>T (p.Thr642=) c.1923C>T (p.Thr641=) c.2061C>T (p.Thr687=) n.1659C>T c.2067C>T (p.Thr689=) c.1995C>T (p.Thr665=) n.2222C>T c.1761C>T (p.Thr587=) c.1998C>T (p.Thr666=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180134G>C | CA491170301 | STRA6 | c.1950C>G (p.Thr650=) c.1926C>G (p.Thr642=) c.1923C>G (p.Thr641=) c.2061C>G (p.Thr687=) n.1659C>G c.2067C>G (p.Thr689=) c.1995C>G (p.Thr665=) n.2222C>G c.1761C>G (p.Thr587=) c.1998C>G (p.Thr666=) | |
| 15 | g.74180134G= | CA2187549710 | STRA6 | c.1950C= (p.Thr650=) c.1926C= (p.Thr642=) c.1923C= (p.Thr641=) c.2061C= (p.Thr687=) n.1659C= c.2067C= (p.Thr689=) c.1995C= (p.Thr665=) n.2222C= c.1761C= (p.Thr587=) c.1998C= (p.Thr666=) | |
| 15 | g.74180134G>T | CA491170302 | STRA6 | c.1950C>A (p.Thr650=) c.1926C>A (p.Thr642=) c.1923C>A (p.Thr641=) c.2061C>A (p.Thr687=) n.1659C>A c.2067C>A (p.Thr689=) c.1995C>A (p.Thr665=) n.2222C>A c.1761C>A (p.Thr587=) c.1998C>A (p.Thr666=) | |
| 15 | g.74180135G>A | CA393128245 | STRA6 | c.1949C>T (p.Thr650Ile) c.1925C>T (p.Thr642Ile) c.1922C>T (p.Thr641Ile) c.2060C>T (p.Thr687Ile) n.1658C>T c.2066C>T (p.Thr689Ile) c.1994C>T (p.Thr665Ile) n.2221C>T c.1760C>T (p.Thr587Ile) c.1997C>T (p.Thr666Ile) | |
| 15 | g.74180135G>C | CA393128246 | STRA6 | c.1949C>G (p.Thr650Ser) c.1925C>G (p.Thr642Ser) c.1922C>G (p.Thr641Ser) c.2060C>G (p.Thr687Ser) n.1658C>G c.2066C>G (p.Thr689Ser) c.1994C>G (p.Thr665Ser) n.2221C>G c.1760C>G (p.Thr587Ser) c.1997C>G (p.Thr666Ser) | |
| 15 | g.74180135G>T | CA393128247 | STRA6 | c.1949C>A (p.Thr650Asn) c.1925C>A (p.Thr642Asn) c.1922C>A (p.Thr641Asn) c.2060C>A (p.Thr687Asn) n.1658C>A c.2066C>A (p.Thr689Asn) c.1994C>A (p.Thr665Asn) n.2221C>A c.1760C>A (p.Thr587Asn) c.1997C>A (p.Thr666Asn) | |
| 15 | g.74180136T>A | CA393128248 | STRA6 | c.1948A>T (p.Thr650Ser) c.1924A>T (p.Thr642Ser) c.1921A>T (p.Thr641Ser) c.2059A>T (p.Thr687Ser) n.1657A>T c.2065A>T (p.Thr689Ser) c.1993A>T (p.Thr665Ser) n.2220A>T c.1759A>T (p.Thr587Ser) c.1996A>T (p.Thr666Ser) | |
| 15 | g.74180136T>C | CA7654382 | STRA6 | c.1948A>G (p.Thr650Ala) c.1924A>G (p.Thr642Ala) c.1921A>G (p.Thr641Ala) c.2059A>G (p.Thr687Ala) n.1657A>G c.2065A>G (p.Thr689Ala) c.1993A>G (p.Thr665Ala) n.2220A>G c.1759A>G (p.Thr587Ala) c.1996A>G (p.Thr666Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180136T>G | CA393128249 | STRA6 | c.1948A>C (p.Thr650Pro) c.1924A>C (p.Thr642Pro) c.1921A>C (p.Thr641Pro) c.2059A>C (p.Thr687Pro) n.1657A>C c.2065A>C (p.Thr689Pro) c.1993A>C (p.Thr665Pro) n.2220A>C c.1759A>C (p.Thr587Pro) c.1996A>C (p.Thr666Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74180136T= | CA2187549711 | STRA6 | c.1948A= (p.Thr650=) c.1924A= (p.Thr642=) c.1921A= (p.Thr641=) c.2059A= (p.Thr687=) n.1657A= c.2065A= (p.Thr689=) c.1993A= (p.Thr665=) n.2220A= c.1759A= (p.Thr587=) c.1996A= (p.Thr666=) | |
| 15 | g.74180137T>A | CA491170305 | STRA6 | c.1947A>T (p.Pro649=) c.1923A>T (p.Pro641=) c.1920A>T (p.Pro640=) c.2058A>T (p.Pro686=) n.1656A>T c.2064A>T (p.Pro688=) c.1992A>T (p.Pro664=) n.2219A>T c.1758A>T (p.Pro586=) c.1995A>T (p.Pro665=) | |
| 15 | g.74180137T>C | CA491170303 | STRA6 | c.1947A>G (p.Pro649=) c.1923A>G (p.Pro641=) c.1920A>G (p.Pro640=) c.2058A>G (p.Pro686=) n.1656A>G c.2064A>G (p.Pro688=) c.1992A>G (p.Pro664=) n.2219A>G c.1758A>G (p.Pro586=) c.1995A>G (p.Pro665=) | gnomAD v4 |
| 15 | g.74180137T>G | CA491170304 | STRA6 | c.1947A>C (p.Pro649=) c.1923A>C (p.Pro641=) c.1920A>C (p.Pro640=) c.2058A>C (p.Pro686=) n.1656A>C c.2064A>C (p.Pro688=) c.1992A>C (p.Pro664=) n.2219A>C c.1758A>C (p.Pro586=) c.1995A>C (p.Pro665=) | |
| 15 | g.74180138G>A | CA393128250 | STRA6 | c.1946C>T (p.Pro649Leu) c.1922C>T (p.Pro641Leu) c.1919C>T (p.Pro640Leu) c.2057C>T (p.Pro686Leu) n.1655C>T c.2063C>T (p.Pro688Leu) c.1991C>T (p.Pro664Leu) n.2218C>T c.1757C>T (p.Pro586Leu) c.1994C>T (p.Pro665Leu) | |
| 15 | g.74180138G>C | CA393128251 | STRA6 | c.1946C>G (p.Pro649Arg) c.1922C>G (p.Pro641Arg) c.1919C>G (p.Pro640Arg) c.2057C>G (p.Pro686Arg) n.1655C>G c.2063C>G (p.Pro688Arg) c.1991C>G (p.Pro664Arg) n.2218C>G c.1757C>G (p.Pro586Arg) c.1994C>G (p.Pro665Arg) | |
| 15 | g.74180138G>T | CA393128252 | STRA6 | c.1946C>A (p.Pro649Gln) c.1922C>A (p.Pro641Gln) c.1919C>A (p.Pro640Gln) c.2057C>A (p.Pro686Gln) n.1655C>A c.2063C>A (p.Pro688Gln) c.1991C>A (p.Pro664Gln) n.2218C>A c.1757C>A (p.Pro586Gln) c.1994C>A (p.Pro665Gln) | |
| 15 | g.74180139G>A | CA393128255 | STRA6 | c.1945C>T (p.Pro649Ser) c.1921C>T (p.Pro641Ser) c.1918C>T (p.Pro640Ser) c.2056C>T (p.Pro686Ser) n.1654C>T c.2062C>T (p.Pro688Ser) c.1990C>T (p.Pro664Ser) n.2217C>T c.1756C>T (p.Pro586Ser) c.1993C>T (p.Pro665Ser) | COSMIC COSMIC |
| 15 | g.74180139G>C | CA393128254 | STRA6 | c.1945C>G (p.Pro649Ala) c.1921C>G (p.Pro641Ala) c.1918C>G (p.Pro640Ala) c.2056C>G (p.Pro686Ala) n.1654C>G c.2062C>G (p.Pro688Ala) c.1990C>G (p.Pro664Ala) n.2217C>G c.1756C>G (p.Pro586Ala) c.1993C>G (p.Pro665Ala) | |
| 15 | g.74180139G>T | CA393128253 | STRA6 | c.1945C>A (p.Pro649Thr) c.1921C>A (p.Pro641Thr) c.1918C>A (p.Pro640Thr) c.2056C>A (p.Pro686Thr) n.1654C>A c.2062C>A (p.Pro688Thr) c.1990C>A (p.Pro664Thr) n.2217C>A c.1756C>A (p.Pro586Thr) c.1993C>A (p.Pro665Thr) | |
| 15 | g.74180140G>A | CA491170306 | STRA6 | c.1944C>T (p.Asn648=) c.1920C>T (p.Asn640=) c.1917C>T (p.Asn639=) c.2055C>T (p.Asn685=) n.1653C>T c.2061C>T (p.Asn687=) c.1989C>T (p.Asn663=) n.2216C>T c.1755C>T (p.Asn585=) c.1992C>T (p.Asn664=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74180140G>C | CA393128256 | STRA6 | c.1944C>G (p.Asn648Lys) c.1920C>G (p.Asn640Lys) c.1917C>G (p.Asn639Lys) c.2055C>G (p.Asn685Lys) n.1653C>G c.2061C>G (p.Asn687Lys) c.1989C>G (p.Asn663Lys) n.2216C>G c.1755C>G (p.Asn585Lys) c.1992C>G (p.Asn664Lys) | COSMIC COSMIC |
| 15 | g.74180140G= | CA2187549712 | STRA6 | c.1944C= (p.Asn648=) c.1920C= (p.Asn640=) c.1917C= (p.Asn639=) c.2055C= (p.Asn685=) n.1653C= c.2061C= (p.Asn687=) c.1989C= (p.Asn663=) n.2216C= c.1755C= (p.Asn585=) c.1992C= (p.Asn664=) | |
| 15 | g.74180140G>T | CA393128257 | STRA6 | c.1944C>A (p.Asn648Lys) c.1920C>A (p.Asn640Lys) c.1917C>A (p.Asn639Lys) c.2055C>A (p.Asn685Lys) n.1653C>A c.2061C>A (p.Asn687Lys) c.1989C>A (p.Asn663Lys) n.2216C>A c.1755C>A (p.Asn585Lys) c.1992C>A (p.Asn664Lys) | |
| 15 | g.74180140_74180141delinsGT | CA2187549713 | STRA6 | c.1943_1944delinsAC (p.Asn648=) c.1919_1920delinsAC (p.Asn640=) c.1916_1917delinsAC (p.Asn639=) c.2054_2055delinsAC (p.Asn685=) n.1652_1653delinsAC c.2060_2061delinsAC (p.Asn687=) c.1988_1989delinsAC (p.Asn663=) n.2215_2216delinsAC c.1754_1755delinsAC (p.Asn585=) c.1991_1992delinsAC (p.Asn664=) | |
| 15 | g.74180141T>A | CA393128258 | STRA6 | c.1943A>T (p.Asn648Ile) c.1919A>T (p.Asn640Ile) c.1916A>T (p.Asn639Ile) c.2054A>T (p.Asn685Ile) n.1652A>T c.2060A>T (p.Asn687Ile) c.1988A>T (p.Asn663Ile) n.2215A>T c.1754A>T (p.Asn585Ile) c.1991A>T (p.Asn664Ile) | |
| 15 | g.74180141T>C | CA393128259 | STRA6 | c.1943A>G (p.Asn648Ser) c.1919A>G (p.Asn640Ser) c.1916A>G (p.Asn639Ser) c.2054A>G (p.Asn685Ser) n.1652A>G c.2060A>G (p.Asn687Ser) c.1988A>G (p.Asn663Ser) n.2215A>G c.1754A>G (p.Asn585Ser) c.1991A>G (p.Asn664Ser) | |
| 15 | g.74180141T>G | CA393128260 | STRA6 | c.1943A>C (p.Asn648Thr) c.1919A>C (p.Asn640Thr) c.1916A>C (p.Asn639Thr) c.2054A>C (p.Asn685Thr) n.1652A>C c.2060A>C (p.Asn687Thr) c.1988A>C (p.Asn663Thr) n.2215A>C c.1754A>C (p.Asn585Thr) c.1991A>C (p.Asn664Thr) | |
| 15 | g.74180142del | CA2187549714 | STRA6 | c.1943del (p.Asn648ThrfsTer?) c.1919del (p.Asn640ThrfsTer?) c.1916del (p.Asn639ThrfsTer?) c.2054del (p.Asn685ThrfsTer?) n.1652del c.2060del (p.Asn687ThrfsTer?) c.1988del (p.Asn663ThrfsTer?) n.2215del c.1754del (p.Asn585ThrfsTer?) c.1991del (p.Asn664ThrfsTer?) | dbSNP |
| 15 | g.74180142T>A | CA393128261 | STRA6 | c.1942A>T (p.Asn648Tyr) c.1918A>T (p.Asn640Tyr) c.1915A>T (p.Asn639Tyr) c.2053A>T (p.Asn685Tyr) n.1651A>T c.2059A>T (p.Asn687Tyr) c.797A>T c.1987A>T (p.Asn663Tyr) n.2214A>T c.1753A>T (p.Asn585Tyr) c.1990A>T (p.Asn664Tyr) | |
| 15 | g.74180142T>C | CA393128262 | STRA6 | c.1942A>G (p.Asn648Asp) c.1918A>G (p.Asn640Asp) c.1915A>G (p.Asn639Asp) c.2053A>G (p.Asn685Asp) n.1651A>G c.2059A>G (p.Asn687Asp) c.797A>G c.1987A>G (p.Asn663Asp) n.2214A>G c.1753A>G (p.Asn585Asp) c.1990A>G (p.Asn664Asp) | |
| 15 | g.74180142T>G | CA393128263 | STRA6 | c.1942A>C (p.Asn648His) c.1918A>C (p.Asn640His) c.1915A>C (p.Asn639His) c.2053A>C (p.Asn685His) n.1651A>C c.2059A>C (p.Asn687His) c.797A>C c.1987A>C (p.Asn663His) n.2214A>C c.1753A>C (p.Asn585His) c.1990A>C (p.Asn664His) | ClinVar dbSNP |
| 15 | g.74180142T= | CA2187549715 | STRA6 | c.1942A= (p.Asn648=) c.1918A= (p.Asn640=) c.1915A= (p.Asn639=) c.2053A= (p.Asn685=) n.1651A= c.2059A= (p.Asn687=) c.797A= c.1987A= (p.Asn663=) n.2214A= c.1753A= (p.Asn585=) c.1990A= (p.Asn664=) | |
| 15 | g.74180143G>A | CA491170307 | STRA6 | c.1941C>T (p.His647=) c.1917C>T (p.His639=) c.1914C>T (p.His638=) c.2052C>T (p.His684=) n.1650C>T c.2058C>T (p.His686=) c.796C>T c.1986C>T (p.His662=) n.2213C>T c.1752C>T (p.His584=) c.1989C>T (p.His663=) | |
| 15 | g.74180143G>C | CA7654383 | STRA6 | c.1941C>G (p.His647Gln) c.1917C>G (p.His639Gln) c.1914C>G (p.His638Gln) c.2052C>G (p.His684Gln) n.1650C>G c.2058C>G (p.His686Gln) c.796C>G c.1986C>G (p.His662Gln) n.2213C>G c.1752C>G (p.His584Gln) c.1989C>G (p.His663Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180143G= | CA2187549716 | STRA6 | c.1941C= (p.His647=) c.1917C= (p.His639=) c.1914C= (p.His638=) c.2052C= (p.His684=) n.1650C= c.2058C= (p.His686=) c.796C= c.1986C= (p.His662=) n.2213C= c.1752C= (p.His584=) c.1989C= (p.His663=) | |
| 15 | g.74180143G>T | CA393128264 | STRA6 | c.1941C>A (p.His647Gln) c.1917C>A (p.His639Gln) c.1914C>A (p.His638Gln) c.2052C>A (p.His684Gln) n.1650C>A c.2058C>A (p.His686Gln) c.796C>A c.1986C>A (p.His662Gln) n.2213C>A c.1752C>A (p.His584Gln) c.1989C>A (p.His663Gln) | gnomAD v4 |
| 15 | g.74180144T>A | CA393128265 | STRA6 | c.1940A>T (p.His647Leu) c.1916A>T (p.His639Leu) c.1913A>T (p.His638Leu) c.2051A>T (p.His684Leu) n.1649A>T c.2057A>T (p.His686Leu) c.795A>T c.1985A>T (p.His662Leu) n.2212A>T c.1751A>T (p.His584Leu) c.1988A>T (p.His663Leu) | |
| 15 | g.74180144T>C | CA393128266 | STRA6 | c.1940A>G (p.His647Arg) c.1916A>G (p.His639Arg) c.1913A>G (p.His638Arg) c.2051A>G (p.His684Arg) n.1649A>G c.2057A>G (p.His686Arg) c.795A>G c.1985A>G (p.His662Arg) n.2212A>G c.1751A>G (p.His584Arg) c.1988A>G (p.His663Arg) | dbSNP gnomAD v4 |
| 15 | g.74180144T>G | CA393128267 | STRA6 | c.1940A>C (p.His647Pro) c.1916A>C (p.His639Pro) c.1913A>C (p.His638Pro) c.2051A>C (p.His684Pro) n.1649A>C c.2057A>C (p.His686Pro) c.795A>C c.1985A>C (p.His662Pro) n.2212A>C c.1751A>C (p.His584Pro) c.1988A>C (p.His663Pro) | |
| 15 | g.74180144T= | CA2187549717 | STRA6 | c.1940A= (p.His647=) c.1916A= (p.His639=) c.1913A= (p.His638=) c.2051A= (p.His684=) n.1649A= c.2057A= (p.His686=) c.795A= c.1985A= (p.His662=) n.2212A= c.1751A= (p.His584=) c.1988A= (p.His663=) | |
| 15 | g.74180145G>A | CA393128270 | STRA6 | c.1939C>T (p.His647Tyr) c.1915C>T (p.His639Tyr) c.1912C>T (p.His638Tyr) c.2050C>T (p.His684Tyr) n.1648C>T c.2056C>T (p.His686Tyr) c.794C>T c.1984C>T (p.His662Tyr) n.2211C>T c.1750C>T (p.His584Tyr) c.1987C>T (p.His663Tyr) | gnomAD v4 COSMIC |
| 15 | g.74180145G>C | CA393128269 | STRA6 | c.1939C>G (p.His647Asp) c.1915C>G (p.His639Asp) c.1912C>G (p.His638Asp) c.2050C>G (p.His684Asp) n.1648C>G c.2056C>G (p.His686Asp) c.794C>G c.1984C>G (p.His662Asp) n.2211C>G c.1750C>G (p.His584Asp) c.1987C>G (p.His663Asp) | gnomAD v4 |
| 15 | g.74180145G>T | CA393128268 | STRA6 | c.1939C>A (p.His647Asn) c.1915C>A (p.His639Asn) c.1912C>A (p.His638Asn) c.2050C>A (p.His684Asn) n.1648C>A c.2056C>A (p.His686Asn) c.794C>A c.1984C>A (p.His662Asn) n.2211C>A c.1750C>A (p.His584Asn) c.1987C>A (p.His663Asn) | |
| 15 | g.74180150_74180152del | CA2556700362 | STRA6 | c.1937_1939del (p.Leu646del) c.1913_1915del (p.Leu638del) c.1910_1912del (p.Leu637del) c.2048_2050del (p.Leu683del) n.1646_1648del c.2054_2056del (p.Leu685del) c.792_794del c.1982_1984del (p.Leu661del) n.2209_2211del c.1748_1750del (p.Leu583del) c.1985_1987del (p.Leu662del) | |
| 15 | g.74180146C>A | CA491170308 | STRA6 | c.1938G>T (p.Leu646=) c.1914G>T (p.Leu638=) c.1911G>T (p.Leu637=) c.2049G>T (p.Leu683=) n.1647G>T c.2055G>T (p.Leu685=) c.793G>T c.1983G>T (p.Leu661=) n.2210G>T c.1749G>T (p.Leu583=) c.1986G>T (p.Leu662=) | |
| 15 | g.74180146C>G | CA491170309 | STRA6 | c.1938G>C (p.Leu646=) c.1914G>C (p.Leu638=) c.1911G>C (p.Leu637=) c.2049G>C (p.Leu683=) n.1647G>C c.2055G>C (p.Leu685=) c.793G>C c.1983G>C (p.Leu661=) n.2210G>C c.1749G>C (p.Leu583=) c.1986G>C (p.Leu662=) | |
| 15 | g.74180146C>T | CA491170310 | STRA6 | c.1938G>A (p.Leu646=) c.1914G>A (p.Leu638=) c.1911G>A (p.Leu637=) c.2049G>A (p.Leu683=) n.1647G>A c.2055G>A (p.Leu685=) c.793G>A c.1983G>A (p.Leu661=) n.2210G>A c.1749G>A (p.Leu583=) c.1986G>A (p.Leu662=) | |
| 15 | g.74180147A>C | CA393128272 | STRA6 | c.1937T>G (p.Leu646Arg) c.1913T>G (p.Leu638Arg) c.1910T>G (p.Leu637Arg) c.2048T>G (p.Leu683Arg) n.1646T>G c.2054T>G (p.Leu685Arg) c.792T>G c.1982T>G (p.Leu661Arg) n.2209T>G c.1748T>G (p.Leu583Arg) c.1985T>G (p.Leu662Arg) | |
| 15 | g.74180147A>G | CA393128271 | STRA6 | c.1937T>C (p.Leu646Pro) c.1913T>C (p.Leu638Pro) c.1910T>C (p.Leu637Pro) c.2048T>C (p.Leu683Pro) n.1646T>C c.2054T>C (p.Leu685Pro) c.792T>C c.1982T>C (p.Leu661Pro) n.2209T>C c.1748T>C (p.Leu583Pro) c.1985T>C (p.Leu662Pro) | gnomAD v4 |
| 15 | g.74180147A>T | CA393128273 | STRA6 | c.1937T>A (p.Leu646Gln) c.1913T>A (p.Leu638Gln) c.1910T>A (p.Leu637Gln) c.2048T>A (p.Leu683Gln) n.1646T>A c.2054T>A (p.Leu685Gln) c.792T>A c.1982T>A (p.Leu661Gln) n.2209T>A c.1748T>A (p.Leu583Gln) c.1985T>A (p.Leu662Gln) | |
| 15 | g.74180148G>A | CA491170311 | STRA6 | c.1936C>T (p.Leu646=) c.1912C>T (p.Leu638=) c.1909C>T (p.Leu637=) c.2047C>T (p.Leu683=) n.1645C>T c.2053C>T (p.Leu685=) c.791C>T c.1981C>T (p.Leu661=) n.2208C>T c.1747C>T (p.Leu583=) c.1984C>T (p.Leu662=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74180148G>C | CA393128274 | STRA6 | c.1936C>G (p.Leu646Val) c.1912C>G (p.Leu638Val) c.1909C>G (p.Leu637Val) c.2047C>G (p.Leu683Val) n.1645C>G c.2053C>G (p.Leu685Val) c.791C>G c.1981C>G (p.Leu661Val) n.2208C>G c.1747C>G (p.Leu583Val) c.1984C>G (p.Leu662Val) | |
| 15 | g.74180148G= | CA2187549718 | STRA6 | c.1936C= (p.Leu646=) c.1912C= (p.Leu638=) c.1909C= (p.Leu637=) c.2047C= (p.Leu683=) n.1645C= c.2053C= (p.Leu685=) c.791C= c.1981C= (p.Leu661=) n.2208C= c.1747C= (p.Leu583=) c.1984C= (p.Leu662=) | |
| 15 | g.74180148G>T | CA393128275 | STRA6 | c.1936C>A (p.Leu646Met) c.1912C>A (p.Leu638Met) c.1909C>A (p.Leu637Met) c.2047C>A (p.Leu683Met) n.1645C>A c.2053C>A (p.Leu685Met) c.791C>A c.1981C>A (p.Leu661Met) n.2208C>A c.1747C>A (p.Leu583Met) c.1984C>A (p.Leu662Met) | COSMIC COSMIC |
| 15 | g.74180149C>A | CA491170312 | STRA6 | c.1935G>T (p.Leu645=) c.1911G>T (p.Leu637=) c.1908G>T (p.Leu636=) c.2046G>T (p.Leu682=) n.1644G>T c.2052G>T (p.Leu684=) c.790G>T c.1980G>T (p.Leu660=) n.2207G>T c.1746G>T (p.Leu582=) c.1983G>T (p.Leu661=) | |
| 15 | g.74180149C= | CA2187549719 | STRA6 | c.1935G= (p.Leu645=) c.1911G= (p.Leu637=) c.1908G= (p.Leu636=) c.2046G= (p.Leu682=) n.1644G= c.2052G= (p.Leu684=) c.790G= c.1980G= (p.Leu660=) n.2207G= c.1746G= (p.Leu582=) c.1983G= (p.Leu661=) | |
| 15 | g.74180149C>G | CA491170313 | STRA6 | c.1935G>C (p.Leu645=) c.1911G>C (p.Leu637=) c.1908G>C (p.Leu636=) c.2046G>C (p.Leu682=) n.1644G>C c.2052G>C (p.Leu684=) c.790G>C c.1980G>C (p.Leu660=) n.2207G>C c.1746G>C (p.Leu582=) c.1983G>C (p.Leu661=) | |
| 15 | g.74180149C>T | CA491170314 | STRA6 | c.1935G>A (p.Leu645=) c.1911G>A (p.Leu637=) c.1908G>A (p.Leu636=) c.2046G>A (p.Leu682=) n.1644G>A c.2052G>A (p.Leu684=) c.790G>A c.1980G>A (p.Leu660=) n.2207G>A c.1746G>A (p.Leu582=) c.1983G>A (p.Leu661=) | ClinVar dbSNP |
| 15 | g.74180150A>C | CA393128276 | STRA6 | c.1934T>G (p.Leu645Arg) c.1910T>G (p.Leu637Arg) c.1907T>G (p.Leu636Arg) c.2045T>G (p.Leu682Arg) n.1643T>G c.2051T>G (p.Leu684Arg) c.789T>G c.1979T>G (p.Leu660Arg) n.2206T>G c.1745T>G (p.Leu582Arg) c.1982T>G (p.Leu661Arg) | |
| 15 | g.74180150A>G | CA393128277 | STRA6 | c.1934T>C (p.Leu645Pro) c.1910T>C (p.Leu637Pro) c.1907T>C (p.Leu636Pro) c.2045T>C (p.Leu682Pro) n.1643T>C c.2051T>C (p.Leu684Pro) c.789T>C c.1979T>C (p.Leu660Pro) n.2206T>C c.1745T>C (p.Leu582Pro) c.1982T>C (p.Leu661Pro) | |
| 15 | g.74180150A>T | CA393128278 | STRA6 | c.1934T>A (p.Leu645Gln) c.1910T>A (p.Leu637Gln) c.1907T>A (p.Leu636Gln) c.2045T>A (p.Leu682Gln) n.1643T>A c.2051T>A (p.Leu684Gln) c.789T>A c.1979T>A (p.Leu660Gln) n.2206T>A c.1745T>A (p.Leu582Gln) c.1982T>A (p.Leu661Gln) | |
| 15 | g.74180151G>A | CA491170315 | STRA6 | c.1933C>T (p.Leu645=) c.1909C>T (p.Leu637=) c.1906C>T (p.Leu636=) c.2044C>T (p.Leu682=) n.1642C>T c.2050C>T (p.Leu684=) c.788C>T c.1978C>T (p.Leu660=) n.2205C>T c.1744C>T (p.Leu582=) c.1981C>T (p.Leu661=) | |
| 15 | g.74180151G>C | CA393128279 | STRA6 | c.1933C>G (p.Leu645Val) c.1909C>G (p.Leu637Val) c.1906C>G (p.Leu636Val) c.2044C>G (p.Leu682Val) n.1642C>G c.2050C>G (p.Leu684Val) c.788C>G c.1978C>G (p.Leu660Val) n.2205C>G c.1744C>G (p.Leu582Val) c.1981C>G (p.Leu661Val) | |
| 15 | g.74180151G>T | CA393128280 | STRA6 | c.1933C>A (p.Leu645Met) c.1909C>A (p.Leu637Met) c.1906C>A (p.Leu636Met) c.2044C>A (p.Leu682Met) n.1642C>A c.2050C>A (p.Leu684Met) c.788C>A c.1978C>A (p.Leu660Met) n.2205C>A c.1744C>A (p.Leu582Met) c.1981C>A (p.Leu661Met) | |
| 15 | g.74180152C>A | CA491170316 | STRA6 | c.1932G>T (p.Thr644=) c.1908G>T (p.Thr636=) c.1905G>T (p.Thr635=) c.2043G>T (p.Thr681=) n.1641G>T c.2049G>T (p.Thr683=) c.787G>T c.1977G>T (p.Thr659=) n.2204G>T c.1743G>T (p.Thr581=) c.1980G>T (p.Thr660=) | |
| 15 | g.74180152C= | CA2187549720 | STRA6 | c.1932G= (p.Thr644=) c.1908G= (p.Thr636=) c.1905G= (p.Thr635=) c.2043G= (p.Thr681=) n.1641G= c.2049G= (p.Thr683=) c.787G= c.1977G= (p.Thr659=) n.2204G= c.1743G= (p.Thr581=) c.1980G= (p.Thr660=) | |
| 15 | g.74180152C>G | CA491170317 | STRA6 | c.1932G>C (p.Thr644=) c.1908G>C (p.Thr636=) c.1905G>C (p.Thr635=) c.2043G>C (p.Thr681=) n.1641G>C c.2049G>C (p.Thr683=) c.787G>C c.1977G>C (p.Thr659=) n.2204G>C c.1743G>C (p.Thr581=) c.1980G>C (p.Thr660=) | |
| 15 | g.74180152C>T | CA272746114 | STRA6 | c.1932G>A (p.Thr644=) c.1908G>A (p.Thr636=) c.1905G>A (p.Thr635=) c.2043G>A (p.Thr681=) n.1641G>A c.2049G>A (p.Thr683=) c.787G>A c.1977G>A (p.Thr659=) n.2204G>A c.1743G>A (p.Thr581=) c.1980G>A (p.Thr660=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.74180153G>A | CA114788 | STRA6 | c.1931C>T (p.Thr644Met) c.1907C>T (p.Thr636Met) c.1904C>T (p.Thr635Met) c.2042C>T (p.Thr681Met) n.1640C>T c.2048C>T (p.Thr683Met) c.786C>T c.1976C>T (p.Thr659Met) n.2203C>T c.1742C>T (p.Thr581Met) c.1979C>T (p.Thr660Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180153G>C | CA393128281 | STRA6 | c.1931C>G (p.Thr644Arg) c.1907C>G (p.Thr636Arg) c.1904C>G (p.Thr635Arg) c.2042C>G (p.Thr681Arg) n.1640C>G c.2048C>G (p.Thr683Arg) c.786C>G c.1976C>G (p.Thr659Arg) n.2203C>G c.1742C>G (p.Thr581Arg) c.1979C>G (p.Thr660Arg) | |
| 15 | g.74180153G= | CA2187549721 | STRA6 | c.1931C= (p.Thr644=) c.1907C= (p.Thr636=) c.1904C= (p.Thr635=) c.2042C= (p.Thr681=) n.1640C= c.2048C= (p.Thr683=) c.786C= c.1976C= (p.Thr659=) n.2203C= c.1742C= (p.Thr581=) c.1979C= (p.Thr660=) | |
| 15 | g.74180153G>T | CA393128282 | STRA6 | c.1931C>A (p.Thr644Lys) c.1907C>A (p.Thr636Lys) c.1904C>A (p.Thr635Lys) c.2042C>A (p.Thr681Lys) n.1640C>A c.2048C>A (p.Thr683Lys) c.786C>A c.1976C>A (p.Thr659Lys) n.2203C>A c.1742C>A (p.Thr581Lys) c.1979C>A (p.Thr660Lys) | |
| 15 | g.74180154T>A | CA393128283 | STRA6 | c.1930A>T (p.Thr644Ser) c.1906A>T (p.Thr636Ser) c.1903A>T (p.Thr635Ser) c.2041A>T (p.Thr681Ser) n.1639A>T c.2047A>T (p.Thr683Ser) c.785A>T c.1975A>T (p.Thr659Ser) n.2202A>T c.1741A>T (p.Thr581Ser) c.1978A>T (p.Thr660Ser) | |
| 15 | g.74180154T>C | CA393128284 | STRA6 | c.1930A>G (p.Thr644Ala) c.1906A>G (p.Thr636Ala) c.1903A>G (p.Thr635Ala) c.2041A>G (p.Thr681Ala) n.1639A>G c.2047A>G (p.Thr683Ala) c.785A>G c.1975A>G (p.Thr659Ala) n.2202A>G c.1741A>G (p.Thr581Ala) c.1978A>G (p.Thr660Ala) | gnomAD v4 |
| 15 | g.74180154T>G | CA393128285 | STRA6 | c.1930A>C (p.Thr644Pro) c.1906A>C (p.Thr636Pro) c.1903A>C (p.Thr635Pro) c.2041A>C (p.Thr681Pro) n.1639A>C c.2047A>C (p.Thr683Pro) c.785A>C c.1975A>C (p.Thr659Pro) n.2202A>C c.1741A>C (p.Thr581Pro) c.1978A>C (p.Thr660Pro) | |
| 15 | g.74180155G>A | CA491170318 | STRA6 | c.1929C>T (p.Tyr643=) c.1905C>T (p.Tyr635=) c.1902C>T (p.Tyr634=) c.2040C>T (p.Tyr680=) n.1638C>T c.2046C>T (p.Tyr682=) c.784C>T c.1974C>T (p.Tyr658=) n.2201C>T c.1740C>T (p.Tyr580=) c.1977C>T (p.Tyr659=) | |
| 15 | g.74180155G>C | CA393128287 | STRA6 | c.1929C>G (p.Tyr643Ter) c.1905C>G (p.Tyr635Ter) c.1902C>G (p.Tyr634Ter) c.2040C>G (p.Tyr680Ter) n.1638C>G c.2046C>G (p.Tyr682Ter) c.784C>G c.1974C>G (p.Tyr658Ter) n.2201C>G c.1740C>G (p.Tyr580Ter) c.1977C>G (p.Tyr659Ter) | |
| 15 | g.74180155G>T | CA393128286 | STRA6 | c.1929C>A (p.Tyr643Ter) c.1905C>A (p.Tyr635Ter) c.1902C>A (p.Tyr634Ter) c.2040C>A (p.Tyr680Ter) n.1638C>A c.2046C>A (p.Tyr682Ter) c.784C>A c.1974C>A (p.Tyr658Ter) n.2201C>A c.1740C>A (p.Tyr580Ter) c.1977C>A (p.Tyr659Ter) | COSMIC COSMIC |
| 15 | g.74180156T>A | CA393128288 | STRA6 | c.1928A>T (p.Tyr643Phe) c.1904A>T (p.Tyr635Phe) c.1901A>T (p.Tyr634Phe) c.2039A>T (p.Tyr680Phe) n.1637A>T c.2045A>T (p.Tyr682Phe) c.783A>T c.1973A>T (p.Tyr658Phe) n.2200A>T c.1739A>T (p.Tyr580Phe) c.1976A>T (p.Tyr659Phe) | |
| 15 | g.74180156T>C | CA393128289 | STRA6 | c.1928A>G (p.Tyr643Cys) c.1904A>G (p.Tyr635Cys) c.1901A>G (p.Tyr634Cys) c.2039A>G (p.Tyr680Cys) n.1637A>G c.2045A>G (p.Tyr682Cys) c.783A>G c.1973A>G (p.Tyr658Cys) n.2200A>G c.1739A>G (p.Tyr580Cys) c.1976A>G (p.Tyr659Cys) | |
| 15 | g.74180156T>G | CA393128290 | STRA6 | c.1928A>C (p.Tyr643Ser) c.1904A>C (p.Tyr635Ser) c.1901A>C (p.Tyr634Ser) c.2039A>C (p.Tyr680Ser) n.1637A>C c.2045A>C (p.Tyr682Ser) c.783A>C c.1973A>C (p.Tyr658Ser) n.2200A>C c.1739A>C (p.Tyr580Ser) c.1976A>C (p.Tyr659Ser) | |
| 15 | g.74180157A>C | CA393128291 | STRA6 | c.1927T>G (p.Tyr643Asp) c.1903T>G (p.Tyr635Asp) c.1900T>G (p.Tyr634Asp) c.2038T>G (p.Tyr680Asp) n.1636T>G c.2044T>G (p.Tyr682Asp) c.782T>G c.1972T>G (p.Tyr658Asp) n.2199T>G c.1738T>G (p.Tyr580Asp) c.1975T>G (p.Tyr659Asp) | |
| 15 | g.74180157A>G | CA393128292 | STRA6 | c.1927T>C (p.Tyr643His) c.1903T>C (p.Tyr635His) c.1900T>C (p.Tyr634His) c.2038T>C (p.Tyr680His) n.1636T>C c.2044T>C (p.Tyr682His) c.782T>C c.1972T>C (p.Tyr658His) n.2199T>C c.1738T>C (p.Tyr580His) c.1975T>C (p.Tyr659His) | |
| 15 | g.74180157A>T | CA393128293 | STRA6 | c.1927T>A (p.Tyr643Asn) c.1903T>A (p.Tyr635Asn) c.1900T>A (p.Tyr634Asn) c.2038T>A (p.Tyr680Asn) n.1636T>A c.2044T>A (p.Tyr682Asn) c.782T>A c.1972T>A (p.Tyr658Asn) n.2199T>A c.1738T>A (p.Tyr580Asn) c.1975T>A (p.Tyr659Asn) | |
| 15 | g.74180158G>A | CA491170319 | STRA6 | c.1926C>T (p.Ala642=) c.1902C>T (p.Ala634=) c.1899C>T (p.Ala633=) c.2037C>T (p.Ala679=) n.1635C>T c.2043C>T (p.Ala681=) c.781C>T c.1971C>T (p.Ala657=) n.2198C>T c.1737C>T (p.Ala579=) c.1974C>T (p.Ala658=) | |
| 15 | g.74180158G>C | CA7654384 | STRA6 | c.1926C>G (p.Ala642=) c.1902C>G (p.Ala634=) c.1899C>G (p.Ala633=) c.2037C>G (p.Ala679=) n.1635C>G c.2043C>G (p.Ala681=) c.781C>G c.1971C>G (p.Ala657=) n.2198C>G c.1737C>G (p.Ala579=) c.1974C>G (p.Ala658=) | dbSNP ExAC gnomAD v2 |
| 15 | g.74180158G= | CA2187549722 | STRA6 | c.1926C= (p.Ala642=) c.1902C= (p.Ala634=) c.1899C= (p.Ala633=) c.2037C= (p.Ala679=) n.1635C= c.2043C= (p.Ala681=) c.781C= c.1971C= (p.Ala657=) n.2198C= c.1737C= (p.Ala579=) c.1974C= (p.Ala658=) | |
| 15 | g.74180158G>T | CA491170320 | STRA6 | c.1926C>A (p.Ala642=) c.1902C>A (p.Ala634=) c.1899C>A (p.Ala633=) c.2037C>A (p.Ala679=) n.1635C>A c.2043C>A (p.Ala681=) c.781C>A c.1971C>A (p.Ala657=) n.2198C>A c.1737C>A (p.Ala579=) c.1974C>A (p.Ala658=) | gnomAD v4 |
| 15 | g.74180159G>A | CA393128294 | STRA6 | c.1925C>T (p.Ala642Val) c.1901C>T (p.Ala634Val) c.1898C>T (p.Ala633Val) c.2036C>T (p.Ala679Val) n.1634C>T c.2042C>T (p.Ala681Val) c.780C>T c.1970C>T (p.Ala657Val) n.2197C>T c.1736C>T (p.Ala579Val) c.1973C>T (p.Ala658Val) | gnomAD v4 |
| 15 | g.74180159G>C | CA393128295 | STRA6 | c.1925C>G (p.Ala642Gly) c.1901C>G (p.Ala634Gly) c.1898C>G (p.Ala633Gly) c.2036C>G (p.Ala679Gly) n.1634C>G c.2042C>G (p.Ala681Gly) c.780C>G c.1970C>G (p.Ala657Gly) n.2197C>G c.1736C>G (p.Ala579Gly) c.1973C>G (p.Ala658Gly) | |
| 15 | g.74180159G>T | CA393128296 | STRA6 | c.1925C>A (p.Ala642Asp) c.1901C>A (p.Ala634Asp) c.1898C>A (p.Ala633Asp) c.2036C>A (p.Ala679Asp) n.1634C>A c.2042C>A (p.Ala681Asp) c.780C>A c.1970C>A (p.Ala657Asp) n.2197C>A c.1736C>A (p.Ala579Asp) c.1973C>A (p.Ala658Asp) | |
| 15 | g.74180160C>A | CA393128297 | STRA6 | c.1924G>T (p.Ala642Ser) c.1900G>T (p.Ala634Ser) c.1897G>T (p.Ala633Ser) c.2035G>T (p.Ala679Ser) n.1633G>T c.2041G>T (p.Ala681Ser) c.779G>T c.1969G>T (p.Ala657Ser) n.2196G>T c.1735G>T (p.Ala579Ser) c.1972G>T (p.Ala658Ser) | |
| 15 | g.74180160C= | CA2187549723 | STRA6 | c.1924G= (p.Ala642=) c.1900G= (p.Ala634=) c.1897G= (p.Ala633=) c.2035G= (p.Ala679=) n.1633G= c.2041G= (p.Ala681=) c.779G= c.1969G= (p.Ala657=) n.2196G= c.1735G= (p.Ala579=) c.1972G= (p.Ala658=) | |
| 15 | g.74180160C>G | CA393128298 | STRA6 | c.1924G>C (p.Ala642Pro) c.1900G>C (p.Ala634Pro) c.1897G>C (p.Ala633Pro) c.2035G>C (p.Ala679Pro) n.1633G>C c.2041G>C (p.Ala681Pro) c.779G>C c.1969G>C (p.Ala657Pro) n.2196G>C c.1735G>C (p.Ala579Pro) c.1972G>C (p.Ala658Pro) | |
| 15 | g.74180160C>T | CA393128299 | STRA6 | c.1924G>A (p.Ala642Thr) c.1900G>A (p.Ala634Thr) c.1897G>A (p.Ala633Thr) c.2035G>A (p.Ala679Thr) n.1633G>A c.2041G>A (p.Ala681Thr) c.779G>A c.1969G>A (p.Ala657Thr) n.2196G>A c.1735G>A (p.Ala579Thr) c.1972G>A (p.Ala658Thr) | dbSNP |
| 15 | g.74180161C>A | CA491170321 | STRA6 | c.1923G>T (p.Leu641=) c.1899G>T (p.Leu633=) c.1896G>T (p.Leu632=) c.2034G>T (p.Leu678=) n.1632G>T c.2040G>T (p.Leu680=) c.778G>T c.1968G>T (p.Leu656=) n.2195G>T c.1734G>T (p.Leu578=) c.1971G>T (p.Leu657=) | |
| 15 | g.74180161C= | CA2187549724 | STRA6 | c.1923G= (p.Leu641=) c.1899G= (p.Leu633=) c.1896G= (p.Leu632=) c.2034G= (p.Leu678=) n.1632G= c.2040G= (p.Leu680=) c.778G= c.1968G= (p.Leu656=) n.2195G= c.1734G= (p.Leu578=) c.1971G= (p.Leu657=) | |
| 15 | g.74180161C>G | CA491170322 | STRA6 | c.1923G>C (p.Leu641=) c.1899G>C (p.Leu633=) c.1896G>C (p.Leu632=) c.2034G>C (p.Leu678=) n.1632G>C c.2040G>C (p.Leu680=) c.778G>C c.1968G>C (p.Leu656=) n.2195G>C c.1734G>C (p.Leu578=) c.1971G>C (p.Leu657=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74180161C>T | CA491170323 | STRA6 | c.1923G>A (p.Leu641=) c.1899G>A (p.Leu633=) c.1896G>A (p.Leu632=) c.2034G>A (p.Leu678=) n.1632G>A c.2040G>A (p.Leu680=) c.778G>A c.1968G>A (p.Leu656=) n.2195G>A c.1734G>A (p.Leu578=) c.1971G>A (p.Leu657=) | gnomAD v4 |
| 15 | g.74180162A>C | CA393128302 | STRA6 | c.1922T>G (p.Leu641Arg) c.1898T>G (p.Leu633Arg) c.1895T>G (p.Leu632Arg) c.2033T>G (p.Leu678Arg) n.1631T>G c.2039T>G (p.Leu680Arg) c.777T>G c.1967T>G (p.Leu656Arg) n.2194T>G c.1733T>G (p.Leu578Arg) c.1970T>G (p.Leu657Arg) | |
| 15 | g.74180162A>G | CA393128301 | STRA6 | c.1922T>C (p.Leu641Pro) c.1898T>C (p.Leu633Pro) c.1895T>C (p.Leu632Pro) c.2033T>C (p.Leu678Pro) n.1631T>C c.2039T>C (p.Leu680Pro) c.777T>C c.1967T>C (p.Leu656Pro) n.2194T>C c.1733T>C (p.Leu578Pro) c.1970T>C (p.Leu657Pro) | |
| 15 | g.74180162A>T | CA393128300 | STRA6 | c.1922T>A (p.Leu641Gln) c.1898T>A (p.Leu633Gln) c.1895T>A (p.Leu632Gln) c.2033T>A (p.Leu678Gln) n.1631T>A c.2039T>A (p.Leu680Gln) c.777T>A c.1967T>A (p.Leu656Gln) n.2194T>A c.1733T>A (p.Leu578Gln) c.1970T>A (p.Leu657Gln) | ClinVar |
| 15 | g.74180163G>A | CA491170324 | STRA6 | c.1921C>T (p.Leu641=) c.1897C>T (p.Leu633=) c.1894C>T (p.Leu632=) c.2032C>T (p.Leu678=) n.1630C>T c.2038C>T (p.Leu680=) c.776C>T c.1966C>T (p.Leu656=) n.2193C>T c.1732C>T (p.Leu578=) c.1969C>T (p.Leu657=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74180163G>C | CA393128303 | STRA6 | c.1921C>G (p.Leu641Val) c.1897C>G (p.Leu633Val) c.1894C>G (p.Leu632Val) c.2032C>G (p.Leu678Val) n.1630C>G c.2038C>G (p.Leu680Val) c.776C>G c.1966C>G (p.Leu656Val) n.2193C>G c.1732C>G (p.Leu578Val) c.1969C>G (p.Leu657Val) | |
| 15 | g.74180163G= | CA2187549725 | STRA6 | c.1921C= (p.Leu641=) c.1897C= (p.Leu633=) c.1894C= (p.Leu632=) c.2032C= (p.Leu678=) n.1630C= c.2038C= (p.Leu680=) c.776C= c.1966C= (p.Leu656=) n.2193C= c.1732C= (p.Leu578=) c.1969C= (p.Leu657=) | |
| 15 | g.74180163G>T | CA393128304 | STRA6 | c.1921C>A (p.Leu641Met) c.1897C>A (p.Leu633Met) c.1894C>A (p.Leu632Met) c.2032C>A (p.Leu678Met) n.1630C>A c.2038C>A (p.Leu680Met) c.776C>A c.1966C>A (p.Leu656Met) n.2193C>A c.1732C>A (p.Leu578Met) c.1969C>A (p.Leu657Met) | |
| 15 | g.74180164A>C | CA491170325 | STRA6 | c.1920T>G (p.Gly640=) c.1896T>G (p.Gly632=) c.1893T>G (p.Gly631=) c.2031T>G (p.Gly677=) n.1629T>G c.2037T>G (p.Gly679=) c.775T>G c.1965T>G (p.Gly655=) n.2192T>G c.1731T>G (p.Gly577=) c.1968T>G (p.Gly656=) | |
| 15 | g.74180164A>G | CA491170326 | STRA6 | c.1920T>C (p.Gly640=) c.1896T>C (p.Gly632=) c.1893T>C (p.Gly631=) c.2031T>C (p.Gly677=) n.1629T>C c.2037T>C (p.Gly679=) c.775T>C c.1965T>C (p.Gly655=) n.2192T>C c.1731T>C (p.Gly577=) c.1968T>C (p.Gly656=) | |
| 15 | g.74180164A>T | CA491170327 | STRA6 | c.1920T>A (p.Gly640=) c.1896T>A (p.Gly632=) c.1893T>A (p.Gly631=) c.2031T>A (p.Gly677=) n.1629T>A c.2037T>A (p.Gly679=) c.775T>A c.1965T>A (p.Gly655=) n.2192T>A c.1731T>A (p.Gly577=) c.1968T>A (p.Gly656=) | |
| 15 | g.74180165C>A | CA393128305 | STRA6 | c.1919G>T (p.Gly640Val) c.1895G>T (p.Gly632Val) c.1892G>T (p.Gly631Val) c.2030G>T (p.Gly677Val) n.1628G>T c.2036G>T (p.Gly679Val) c.774G>T c.1964G>T (p.Gly655Val) n.2191G>T c.1730G>T (p.Gly577Val) c.1967G>T (p.Gly656Val) | |
| 15 | g.74180165C>G | CA393128306 | STRA6 | c.1919G>C (p.Gly640Ala) c.1895G>C (p.Gly632Ala) c.1892G>C (p.Gly631Ala) c.2030G>C (p.Gly677Ala) n.1628G>C c.2036G>C (p.Gly679Ala) c.774G>C c.1964G>C (p.Gly655Ala) n.2191G>C c.1730G>C (p.Gly577Ala) c.1967G>C (p.Gly656Ala) | |
| 15 | g.74180165C>T | CA393128307 | STRA6 | c.1919G>A (p.Gly640Asp) c.1895G>A (p.Gly632Asp) c.1892G>A (p.Gly631Asp) c.2030G>A (p.Gly677Asp) n.1628G>A c.2036G>A (p.Gly679Asp) c.774G>A c.1964G>A (p.Gly655Asp) n.2191G>A c.1730G>A (p.Gly577Asp) c.1967G>A (p.Gly656Asp) | |
| 15 | g.74180166C>A | CA393128310 | STRA6 | c.1918G>T (p.Gly640Cys) c.1894G>T (p.Gly632Cys) c.1891G>T (p.Gly631Cys) c.2029G>T (p.Gly677Cys) n.1627G>T c.2035G>T (p.Gly679Cys) c.773G>T c.1963G>T (p.Gly655Cys) n.2190G>T c.1729G>T (p.Gly577Cys) c.1966G>T (p.Gly656Cys) | gnomAD v4 COSMIC COSMIC |
| 15 | g.74180166C>G | CA393128309 | STRA6 | c.1918G>C (p.Gly640Arg) c.1894G>C (p.Gly632Arg) c.1891G>C (p.Gly631Arg) c.2029G>C (p.Gly677Arg) n.1627G>C c.2035G>C (p.Gly679Arg) c.773G>C c.1963G>C (p.Gly655Arg) n.2190G>C c.1729G>C (p.Gly577Arg) c.1966G>C (p.Gly656Arg) | |
| 15 | g.74180166C>T | CA393128308 | STRA6 | c.1918G>A (p.Gly640Ser) c.1894G>A (p.Gly632Ser) c.1891G>A (p.Gly631Ser) c.2029G>A (p.Gly677Ser) n.1627G>A c.2035G>A (p.Gly679Ser) c.773G>A c.1963G>A (p.Gly655Ser) n.2190G>A c.1729G>A (p.Gly577Ser) c.1966G>A (p.Gly656Ser) | |
| 15 | g.74180167C>A | CA393128311 | STRA6 | c.1917G>T (p.Trp639Cys) c.1893G>T (p.Trp631Cys) c.1890G>T (p.Trp630Cys) c.2028G>T (p.Trp676Cys) n.1626G>T c.2034G>T (p.Trp678Cys) c.772G>T c.1962G>T (p.Trp654Cys) n.2189G>T c.1728G>T (p.Trp576Cys) c.1965G>T (p.Trp655Cys) | |
| 15 | g.74180167C= | CA2187549726 | STRA6 | c.1917G= (p.Trp639=) c.1893G= (p.Trp631=) c.1890G= (p.Trp630=) c.2028G= (p.Trp676=) n.1626G= c.2034G= (p.Trp678=) c.772G= c.1962G= (p.Trp654=) n.2189G= c.1728G= (p.Trp576=) c.1965G= (p.Trp655=) | |
| 15 | g.74180167C>G | CA393128312 | STRA6 | c.1917G>C (p.Trp639Cys) c.1893G>C (p.Trp631Cys) c.1890G>C (p.Trp630Cys) c.2028G>C (p.Trp676Cys) n.1626G>C c.2034G>C (p.Trp678Cys) c.772G>C c.1962G>C (p.Trp654Cys) n.2189G>C c.1728G>C (p.Trp576Cys) c.1965G>C (p.Trp655Cys) | |
| 15 | g.74180167C>T | CA393128313 | STRA6 | c.1917G>A (p.Trp639Ter) c.1893G>A (p.Trp631Ter) c.1890G>A (p.Trp630Ter) c.2028G>A (p.Trp676Ter) n.1626G>A c.2034G>A (p.Trp678Ter) c.772G>A c.1962G>A (p.Trp654Ter) n.2189G>A c.1728G>A (p.Trp576Ter) c.1965G>A (p.Trp655Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 15 | g.74180168C>A | CA393128314 | STRA6 | c.1916G>T (p.Trp639Leu) c.1892G>T (p.Trp631Leu) c.1889G>T (p.Trp630Leu) c.2027G>T (p.Trp676Leu) n.1625G>T c.2033G>T (p.Trp678Leu) c.771G>T c.1961G>T (p.Trp654Leu) n.2188G>T c.1727G>T (p.Trp576Leu) c.1964G>T (p.Trp655Leu) | |
| 15 | g.74180168C>G | CA393128315 | STRA6 | c.1916G>C (p.Trp639Ser) c.1892G>C (p.Trp631Ser) c.1889G>C (p.Trp630Ser) c.2027G>C (p.Trp676Ser) n.1625G>C c.2033G>C (p.Trp678Ser) c.771G>C c.1961G>C (p.Trp654Ser) n.2188G>C c.1727G>C (p.Trp576Ser) c.1964G>C (p.Trp655Ser) | |
| 15 | g.74180168C>T | CA393128316 | STRA6 | c.1916G>A (p.Trp639Ter) c.1892G>A (p.Trp631Ter) c.1889G>A (p.Trp630Ter) c.2027G>A (p.Trp676Ter) n.1625G>A c.2033G>A (p.Trp678Ter) c.771G>A c.1961G>A (p.Trp654Ter) n.2188G>A c.1727G>A (p.Trp576Ter) c.1964G>A (p.Trp655Ter) | |
| 15 | g.74180169A>C | CA393128317 | STRA6 | c.1915T>G (p.Trp639Gly) c.1891T>G (p.Trp631Gly) c.1888T>G (p.Trp630Gly) c.2026T>G (p.Trp676Gly) n.1624T>G c.2032T>G (p.Trp678Gly) c.770T>G c.1960T>G (p.Trp654Gly) n.2187T>G c.1726T>G (p.Trp576Gly) c.1963T>G (p.Trp655Gly) | |
| 15 | g.74180169A>G | CA393128319 | STRA6 | c.1915T>C (p.Trp639Arg) c.1891T>C (p.Trp631Arg) c.1888T>C (p.Trp630Arg) c.2026T>C (p.Trp676Arg) n.1624T>C c.2032T>C (p.Trp678Arg) c.770T>C c.1960T>C (p.Trp654Arg) n.2187T>C c.1726T>C (p.Trp576Arg) c.1963T>C (p.Trp655Arg) | |
| 15 | g.74180169A>T | CA393128318 | STRA6 | c.1915T>A (p.Trp639Arg) c.1891T>A (p.Trp631Arg) c.1888T>A (p.Trp630Arg) c.2026T>A (p.Trp676Arg) n.1624T>A c.2032T>A (p.Trp678Arg) c.770T>A c.1960T>A (p.Trp654Arg) n.2187T>A c.1726T>A (p.Trp576Arg) c.1963T>A (p.Trp655Arg) | |
| 15 | g.74180169_74180170insACTATTG | CA491170328 | STRA6 | c.1914_1915insCAATAGT (p.Trp639GlnfsTer2) c.1890_1891insCAATAGT (p.Trp631GlnfsTer2) c.1887_1888insCAATAGT (p.Trp630GlnfsTer2) c.2025_2026insCAATAGT (p.Trp676GlnfsTer2) n.1623_1624insCAATAGT c.2031_2032insCAATAGT (p.Trp678GlnfsTer2) c.769_770insCAATAGT c.1959_1960insCAATAGT (p.Trp654GlnfsTer2) n.2186_2187insCAATAGT c.1725_1726insCAATAGT (p.Trp576GlnfsTer2) c.1962_1963insCAATAGT (p.Trp655GlnfsTer2) | |
| 15 | g.74180170G>A | CA272746121 | STRA6 | c.1914C>T (p.Arg638=) c.1890C>T (p.Arg630=) c.1887C>T (p.Arg629=) c.2025C>T (p.Arg675=) n.1623C>T c.2031C>T (p.Arg677=) c.769C>T c.1959C>T (p.Arg653=) n.2186C>T c.1725C>T (p.Arg575=) c.1962C>T (p.Arg654=) | dbSNP gnomAD v4 |
| 15 | g.74180170G>C | CA491170329 | STRA6 | c.1914C>G (p.Arg638=) c.1890C>G (p.Arg630=) c.1887C>G (p.Arg629=) c.2025C>G (p.Arg675=) n.1623C>G c.2031C>G (p.Arg677=) c.769C>G c.1959C>G (p.Arg653=) n.2186C>G c.1725C>G (p.Arg575=) c.1962C>G (p.Arg654=) | |
| 15 | g.74180170G= | CA2187549727 | STRA6 | c.1914C= (p.Arg638=) c.1890C= (p.Arg630=) c.1887C= (p.Arg629=) c.2025C= (p.Arg675=) n.1623C= c.2031C= (p.Arg677=) c.769C= c.1959C= (p.Arg653=) n.2186C= c.1725C= (p.Arg575=) c.1962C= (p.Arg654=) | |
| 15 | g.74180170G>T | CA491170330 | STRA6 | c.1914C>A (p.Arg638=) c.1890C>A (p.Arg630=) c.1887C>A (p.Arg629=) c.2025C>A (p.Arg675=) n.1623C>A c.2031C>A (p.Arg677=) c.769C>A c.1959C>A (p.Arg653=) n.2186C>A c.1725C>A (p.Arg575=) c.1962C>A (p.Arg654=) | |
| 15 | g.74180171C>A | CA393128320 | STRA6 | c.1913G>T (p.Arg638Leu) c.1889G>T (p.Arg630Leu) c.1886G>T (p.Arg629Leu) c.2024G>T (p.Arg675Leu) n.1622G>T c.2030G>T (p.Arg677Leu) c.768G>T c.1958G>T (p.Arg653Leu) n.2185G>T c.1724G>T (p.Arg575Leu) c.1961G>T (p.Arg654Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74180171C= | CA2187549728 | STRA6 | c.1913G= (p.Arg638=) c.1889G= (p.Arg630=) c.1886G= (p.Arg629=) c.2024G= (p.Arg675=) n.1622G= c.2030G= (p.Arg677=) c.768G= c.1958G= (p.Arg653=) n.2185G= c.1724G= (p.Arg575=) c.1961G= (p.Arg654=) | |
| 15 | g.74180171C>G | CA072032 | STRA6 | c.1913G>C (p.Arg638Pro) c.1889G>C (p.Arg630Pro) c.1886G>C (p.Arg629Pro) c.2024G>C (p.Arg675Pro) n.1622G>C c.2030G>C (p.Arg677Pro) c.768G>C c.1958G>C (p.Arg653Pro) n.2185G>C c.1724G>C (p.Arg575Pro) c.1961G>C (p.Arg654Pro) | ClinVar dbSNP ExAC gnomAD v2 |
| 15 | g.74180171C>T | CA7654385 | STRA6 | c.1913G>A (p.Arg638His) c.1889G>A (p.Arg630His) c.1886G>A (p.Arg629His) c.2024G>A (p.Arg675His) n.1622G>A c.2030G>A (p.Arg677His) c.768G>A c.1958G>A (p.Arg653His) n.2185G>A c.1724G>A (p.Arg575His) c.1961G>A (p.Arg654His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180172G>A | CA7654386 | STRA6 | c.1912C>T (p.Arg638Cys) c.1888C>T (p.Arg630Cys) c.1885C>T (p.Arg629Cys) c.2023C>T (p.Arg675Cys) n.1621C>T c.2029C>T (p.Arg677Cys) c.767C>T c.1957C>T (p.Arg653Cys) n.2184C>T c.1723C>T (p.Arg575Cys) c.1960C>T (p.Arg654Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.74180172G>C | CA393128322 | STRA6 | c.1912C>G (p.Arg638Gly) c.1888C>G (p.Arg630Gly) c.1885C>G (p.Arg629Gly) c.2023C>G (p.Arg675Gly) n.1621C>G c.2029C>G (p.Arg677Gly) c.767C>G c.1957C>G (p.Arg653Gly) n.2184C>G c.1723C>G (p.Arg575Gly) c.1960C>G (p.Arg654Gly) | |
| 15 | g.74180172G= | CA2187549729 | STRA6 | c.1912C= (p.Arg638=) c.1888C= (p.Arg630=) c.1885C= (p.Arg629=) c.2023C= (p.Arg675=) n.1621C= c.2029C= (p.Arg677=) c.767C= c.1957C= (p.Arg653=) n.2184C= c.1723C= (p.Arg575=) c.1960C= (p.Arg654=) | |
| 15 | g.74180172G>T | CA393128323 | STRA6 | c.1912C>A (p.Arg638Ser) c.1888C>A (p.Arg630Ser) c.1885C>A (p.Arg629Ser) c.2023C>A (p.Arg675Ser) n.1621C>A c.2029C>A (p.Arg677Ser) c.767C>A c.1957C>A (p.Arg653Ser) n.2184C>A c.1723C>A (p.Arg575Ser) c.1960C>A (p.Arg654Ser) | |
| 15 | g.74180172_74180173insT | CA491170331 | STRA6 | c.1911_1912insA (p.Arg638ThrfsTer?) c.1887_1888insA (p.Arg630ThrfsTer?) c.1884_1885insA (p.Arg629ThrfsTer?) c.2022_2023insA (p.Arg675ThrfsTer?) n.1620_1621insA c.2028_2029insA (p.Arg677ThrfsTer?) c.766_767insA c.1956_1957insA (p.Arg653ThrfsTer?) n.2183_2184insA c.1722_1723insA (p.Arg575ThrfsTer?) c.1959_1960insA (p.Arg654ThrfsTer?) | |
| 15 | g.74180173A>C | CA491170332 | STRA6 | c.1911T>G (p.Ala637=) c.1887T>G (p.Ala629=) c.1884T>G (p.Ala628=) c.2022T>G (p.Ala674=) n.1620T>G c.2028T>G (p.Ala676=) c.766T>G c.1956T>G (p.Ala652=) n.2183T>G c.1722T>G (p.Ala574=) c.1959T>G (p.Ala653=) | |
| 15 | g.74180173A>G | CA491170333 | STRA6 | c.1911T>C (p.Ala637=) c.1887T>C (p.Ala629=) c.1884T>C (p.Ala628=) c.2022T>C (p.Ala674=) n.1620T>C c.2028T>C (p.Ala676=) c.766T>C c.1956T>C (p.Ala652=) n.2183T>C c.1722T>C (p.Ala574=) c.1959T>C (p.Ala653=) | |
| 15 | g.74180173A>T | CA491170334 | STRA6 | c.1911T>A (p.Ala637=) c.1887T>A (p.Ala629=) c.1884T>A (p.Ala628=) c.2022T>A (p.Ala674=) n.1620T>A c.2028T>A (p.Ala676=) c.766T>A c.1956T>A (p.Ala652=) n.2183T>A c.1722T>A (p.Ala574=) c.1959T>A (p.Ala653=) | |
| 15 | g.74180174G>A | CA393128324 | STRA6 | c.1910C>T (p.Ala637Val) c.1886C>T (p.Ala629Val) c.1883C>T (p.Ala628Val) c.2021C>T (p.Ala674Val) n.1619C>T c.2027C>T (p.Ala676Val) c.765C>T c.1955C>T (p.Ala652Val) n.2182C>T c.1721C>T (p.Ala574Val) c.1958C>T (p.Ala653Val) | |
| 15 | g.74180174G>C | CA7654387 | STRA6 | c.1910C>G (p.Ala637Gly) c.1886C>G (p.Ala629Gly) c.1883C>G (p.Ala628Gly) c.2021C>G (p.Ala674Gly) n.1619C>G c.2027C>G (p.Ala676Gly) c.765C>G c.1955C>G (p.Ala652Gly) n.2182C>G c.1721C>G (p.Ala574Gly) c.1958C>G (p.Ala653Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180174G= | CA2187549730 | STRA6 | c.1910C= (p.Ala637=) c.1886C= (p.Ala629=) c.1883C= (p.Ala628=) c.2021C= (p.Ala674=) n.1619C= c.2027C= (p.Ala676=) c.765C= c.1955C= (p.Ala652=) n.2182C= c.1721C= (p.Ala574=) c.1958C= (p.Ala653=) | |
| 15 | g.74180174G>T | CA393128325 | STRA6 | c.1910C>A (p.Ala637Asp) c.1886C>A (p.Ala629Asp) c.1883C>A (p.Ala628Asp) c.2021C>A (p.Ala674Asp) n.1619C>A c.2027C>A (p.Ala676Asp) c.765C>A c.1955C>A (p.Ala652Asp) n.2182C>A c.1721C>A (p.Ala574Asp) c.1958C>A (p.Ala653Asp) | |
| 15 | g.74180174_74180175insGGGAAAGGCGCGGAGGGGCGCACATACGCTTCGGGGGCA | CA491170335 | STRA6 | c.1909_1910insTGCCCCCGAAGCGTATGTGCGCCCCTCCGCGCCTTTCCC (p.Ala637delinsValProProLysArgMetCysAlaProProArgLeuSerPro) c.1885_1886insTGCCCCCGAAGCGTATGTGCGCCCCTCCGCGCCTTTCCC (p.Ala629delinsValProProLysArgMetCysAlaProProArgLeuSerPro) c.1882_1883insTGCCCCCGAAGCGTATGTGCGCCCCTCCGCGCCTTTCCC (p.Ala628delinsValProProLysArgMetCysAlaProProArgLeuSerPro) c.2020_2021insTGCCCCCGAAGCGTATGTGCGCCCCTCCGCGCCTTTCCC (p.Ala674delinsValProProLysArgMetCysAlaProProArgLeuSerPro) n.1618_1619insTGCCCCCGAAGCGTATGTGCGCCCCTCCGCGCCTTTCCC c.2026_2027insTGCCCCCGAAGCGTATGTGCGCCCCTCCGCGCCTTTCCC (p.Ala676delinsValProProLysArgMetCysAlaProProArgLeuSerPro) c.764_765insTGCCCCCGAAGCGTATGTGCGCCCCTCCGCGCCTTTCCC c.1954_1955insTGCCCCCGAAGCGTATGTGCGCCCCTCCGCGCCTTTCCC (p.Ala652delinsValProProLysArgMetCysAlaProProArgLeuSerPro) n.2181_2182insTGCCCCCGAAGCGTATGTGCGCCCCTCCGCGCCTTTCCC c.1720_1721insTGCCCCCGAAGCGTATGTGCGCCCCTCCGCGCCTTTCCC (p.Ala574delinsValProProLysArgMetCysAlaProProArgLeuSerPro) c.1957_1958insTGCCCCCGAAGCGTATGTGCGCCCCTCCGCGCCTTTCCC (p.Ala653delinsValProProLysArgMetCysAlaProProArgLeuSerPro) | |
| 15 | g.74180175C>A | CA393128327 | STRA6 | c.1909G>T (p.Ala637Ser) c.1885G>T (p.Ala629Ser) c.1882G>T (p.Ala628Ser) c.2020G>T (p.Ala674Ser) n.1618G>T c.2026G>T (p.Ala676Ser) c.764G>T c.1954G>T (p.Ala652Ser) n.2181G>T c.1720G>T (p.Ala574Ser) c.1957G>T (p.Ala653Ser) | |
| 15 | g.74180175C= | CA2187549731 | STRA6 | c.1909G= (p.Ala637=) c.1885G= (p.Ala629=) c.1882G= (p.Ala628=) c.2020G= (p.Ala674=) n.1618G= c.2026G= (p.Ala676=) c.764G= c.1954G= (p.Ala652=) n.2181G= c.1720G= (p.Ala574=) c.1957G= (p.Ala653=) | |
| 15 | g.74180175C>G | CA393128329 | STRA6 | c.1909G>C (p.Ala637Pro) c.1885G>C (p.Ala629Pro) c.1882G>C (p.Ala628Pro) c.2020G>C (p.Ala674Pro) n.1618G>C c.2026G>C (p.Ala676Pro) c.764G>C c.1954G>C (p.Ala652Pro) n.2181G>C c.1720G>C (p.Ala574Pro) c.1957G>C (p.Ala653Pro) | gnomAD v4 |
| 15 | g.74180175C>T | CA272746127 | STRA6 | c.1909G>A (p.Ala637Thr) c.1885G>A (p.Ala629Thr) c.1882G>A (p.Ala628Thr) c.2020G>A (p.Ala674Thr) n.1618G>A c.2026G>A (p.Ala676Thr) c.764G>A c.1954G>A (p.Ala652Thr) n.2181G>A c.1720G>A (p.Ala574Thr) c.1957G>A (p.Ala653Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74180176C>A | CA393128335 | STRA6 | c.1908G>T (p.Arg636Ser) c.1884G>T (p.Arg628Ser) c.1881G>T (p.Arg627Ser) c.2019G>T (p.Arg673Ser) n.1617G>T c.2025G>T (p.Arg675Ser) c.763G>T c.1953G>T (p.Arg651Ser) n.2180G>T c.1719G>T (p.Arg573Ser) c.1956G>T (p.Arg652Ser) | |
| 15 | g.74180176C= | CA2187549732 | STRA6 | c.1908G= (p.Arg636=) c.1884G= (p.Arg628=) c.1881G= (p.Arg627=) c.2019G= (p.Arg673=) n.1617G= c.2025G= (p.Arg675=) c.763G= c.1953G= (p.Arg651=) n.2180G= c.1719G= (p.Arg573=) c.1956G= (p.Arg652=) | |
| 15 | g.74180176C>G | CA393128337 | STRA6 | c.1908G>C (p.Arg636Ser) c.1884G>C (p.Arg628Ser) c.1881G>C (p.Arg627Ser) c.2019G>C (p.Arg673Ser) n.1617G>C c.2025G>C (p.Arg675Ser) c.763G>C c.1953G>C (p.Arg651Ser) n.2180G>C c.1719G>C (p.Arg573Ser) c.1956G>C (p.Arg652Ser) | |
| 15 | g.74180176C>T | CA7654388 | STRA6 | c.1908G>A (p.Arg636=) c.1884G>A (p.Arg628=) c.1881G>A (p.Arg627=) c.2019G>A (p.Arg673=) n.1617G>A c.2025G>A (p.Arg675=) c.763G>A c.1953G>A (p.Arg651=) n.2180G>A c.1719G>A (p.Arg573=) c.1956G>A (p.Arg652=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180177C>A | CA393128340 | STRA6 | c.1907G>T (p.Arg636Met) c.1883G>T (p.Arg628Met) c.1880G>T (p.Arg627Met) c.2018G>T (p.Arg673Met) n.1616G>T c.2024G>T (p.Arg675Met) c.762G>T c.1952G>T (p.Arg651Met) n.2179G>T c.1718G>T (p.Arg573Met) c.1955G>T (p.Arg652Met) | |
| 15 | g.74180177C= | CA2187549733 | STRA6 | c.1907G= (p.Arg636=) c.1883G= (p.Arg628=) c.1880G= (p.Arg627=) c.2018G= (p.Arg673=) n.1616G= c.2024G= (p.Arg675=) c.762G= c.1952G= (p.Arg651=) n.2179G= c.1718G= (p.Arg573=) c.1955G= (p.Arg652=) | |
| 15 | g.74180177C>G | CA393128343 | STRA6 | c.1907G>C (p.Arg636Thr) c.1883G>C (p.Arg628Thr) c.1880G>C (p.Arg627Thr) c.2018G>C (p.Arg673Thr) n.1616G>C c.2024G>C (p.Arg675Thr) c.762G>C c.1952G>C (p.Arg651Thr) n.2179G>C c.1718G>C (p.Arg573Thr) c.1955G>C (p.Arg652Thr) | |
| 15 | g.74180177C>T | CA7654389 | STRA6 | c.1907G>A (p.Arg636Lys) c.1883G>A (p.Arg628Lys) c.1880G>A (p.Arg627Lys) c.2018G>A (p.Arg673Lys) n.1616G>A c.2024G>A (p.Arg675Lys) c.762G>A c.1952G>A (p.Arg651Lys) n.2179G>A c.1718G>A (p.Arg573Lys) c.1955G>A (p.Arg652Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180177_74180178insCAGGGGCGCTGCACCTCCGCCAGGGGAGGCAGCATGTAGTCGCGCACGAGCGGGTTC | CA491170336 | STRA6 | c.1907_1908insAACCCGCTCGTGCGCGACTACATGCTGCCTCCCCTGGCGGAGGTGCAGCGCCCCTGG (p.Arg636_Ala637insThrArgSerCysAlaThrThrCysCysLeuProTrpArgArgCysSerAlaProGly) c.1883_1884insAACCCGCTCGTGCGCGACTACATGCTGCCTCCCCTGGCGGAGGTGCAGCGCCCCTGG (p.Arg628_Ala629insThrArgSerCysAlaThrThrCysCysLeuProTrpArgArgCysSerAlaProGly) c.1880_1881insAACCCGCTCGTGCGCGACTACATGCTGCCTCCCCTGGCGGAGGTGCAGCGCCCCTGG (p.Arg627_Ala628insThrArgSerCysAlaThrThrCysCysLeuProTrpArgArgCysSerAlaProGly) c.2018_2019insAACCCGCTCGTGCGCGACTACATGCTGCCTCCCCTGGCGGAGGTGCAGCGCCCCTGG (p.Arg673_Ala674insThrArgSerCysAlaThrThrCysCysLeuProTrpArgArgCysSerAlaProGly) n.1616_1617insAACCCGCTCGTGCGCGACTACATGCTGCCTCCCCTGGCGGAGGTGCAGCGCCCCTGG c.2024_2025insAACCCGCTCGTGCGCGACTACATGCTGCCTCCCCTGGCGGAGGTGCAGCGCCCCTGG (p.Arg675_Ala676insThrArgSerCysAlaThrThrCysCysLeuProTrpArgArgCysSerAlaProGly) c.762_763insAACCCGCTCGTGCGCGACTACATGCTGCCTCCCCTGGCGGAGGTGCAGCGCCCCTGG c.1952_1953insAACCCGCTCGTGCGCGACTACATGCTGCCTCCCCTGGCGGAGGTGCAGCGCCCCTGG (p.Arg651_Ala652insThrArgSerCysAlaThrThrCysCysLeuProTrpArgArgCysSerAlaProGly) n.2179_2180insAACCCGCTCGTGCGCGACTACATGCTGCCTCCCCTGGCGGAGGTGCAGCGCCCCTGG c.1718_1719insAACCCGCTCGTGCGCGACTACATGCTGCCTCCCCTGGCGGAGGTGCAGCGCCCCTGG (p.Arg573_Ala574insThrArgSerCysAlaThrThrCysCysLeuProTrpArgArgCysSerAlaProGly) c.1955_1956insAACCCGCTCGTGCGCGACTACATGCTGCCTCCCCTGGCGGAGGTGCAGCGCCCCTGG (p.Arg652_Ala653insThrArgSerCysAlaThrThrCysCysLeuProTrpArgArgCysSerAlaProGly) | |
| 15 | g.74180178T>A | CA393128345 | STRA6 | c.1906A>T (p.Arg636Trp) c.1882A>T (p.Arg628Trp) c.1879A>T (p.Arg627Trp) c.2017A>T (p.Arg673Trp) n.1615A>T c.2023A>T (p.Arg675Trp) c.761A>T c.1951A>T (p.Arg651Trp) n.2178A>T c.1717A>T (p.Arg573Trp) c.1954A>T (p.Arg652Trp) | |
| 15 | g.74180178T>C | CA393128347 | STRA6 | c.1906A>G (p.Arg636Gly) c.1882A>G (p.Arg628Gly) c.1879A>G (p.Arg627Gly) c.2017A>G (p.Arg673Gly) n.1615A>G c.2023A>G (p.Arg675Gly) c.761A>G c.1951A>G (p.Arg651Gly) n.2178A>G c.1717A>G (p.Arg573Gly) c.1954A>G (p.Arg652Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74180178T>G | CA491170337 | STRA6 | c.1906A>C (p.Arg636=) c.1882A>C (p.Arg628=) c.1879A>C (p.Arg627=) c.2017A>C (p.Arg673=) n.1615A>C c.2023A>C (p.Arg675=) c.761A>C c.1951A>C (p.Arg651=) n.2178A>C c.1717A>C (p.Arg573=) c.1954A>C (p.Arg652=) | gnomAD v4 |
| 15 | g.74180178T= | CA2187549734 | STRA6 | c.1906A= (p.Arg636=) c.1882A= (p.Arg628=) c.1879A= (p.Arg627=) c.2017A= (p.Arg673=) n.1615A= c.2023A= (p.Arg675=) c.761A= c.1951A= (p.Arg651=) n.2178A= c.1717A= (p.Arg573=) c.1954A= (p.Arg652=) | |
| 15 | g.74180179G>A | CA491170339 | STRA6 | c.1905C>T (p.Gly635=) c.1881C>T (p.Gly627=) c.1878C>T (p.Gly626=) c.2016C>T (p.Gly672=) n.1614C>T c.2022C>T (p.Gly674=) c.760C>T c.1950C>T (p.Gly650=) n.2177C>T c.1716C>T (p.Gly572=) c.1953C>T (p.Gly651=) | |
| 15 | g.74180179G>C | CA491170340 | STRA6 | c.1905C>G (p.Gly635=) c.1881C>G (p.Gly627=) c.1878C>G (p.Gly626=) c.2016C>G (p.Gly672=) n.1614C>G c.2022C>G (p.Gly674=) c.760C>G c.1950C>G (p.Gly650=) n.2177C>G c.1716C>G (p.Gly572=) c.1953C>G (p.Gly651=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74180179G= | CA2187549735 | STRA6 | c.1905C= (p.Gly635=) c.1881C= (p.Gly627=) c.1878C= (p.Gly626=) c.2016C= (p.Gly672=) n.1614C= c.2022C= (p.Gly674=) c.760C= c.1950C= (p.Gly650=) n.2177C= c.1716C= (p.Gly572=) c.1953C= (p.Gly651=) | |
| 15 | g.74180179G>T | CA491170338 | STRA6 | c.1905C>A (p.Gly635=) c.1881C>A (p.Gly627=) c.1878C>A (p.Gly626=) c.2016C>A (p.Gly672=) n.1614C>A c.2022C>A (p.Gly674=) c.760C>A c.1950C>A (p.Gly650=) n.2177C>A c.1716C>A (p.Gly572=) c.1953C>A (p.Gly651=) | |
| 15 | g.74180180C>A | CA7654390 | STRA6 | c.1904G>T (p.Gly635Val) c.1880G>T (p.Gly627Val) c.1877G>T (p.Gly626Val) c.2015G>T (p.Gly672Val) n.1613G>T c.2021G>T (p.Gly674Val) c.759G>T c.1949G>T (p.Gly650Val) n.2176G>T c.1715G>T (p.Gly572Val) c.1952G>T (p.Gly651Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180180C= | CA2187549736 | STRA6 | c.1904G= (p.Gly635=) c.1880G= (p.Gly627=) c.1877G= (p.Gly626=) c.2015G= (p.Gly672=) n.1613G= c.2021G= (p.Gly674=) c.759G= c.1949G= (p.Gly650=) n.2176G= c.1715G= (p.Gly572=) c.1952G= (p.Gly651=) | |
| 15 | g.74180180C>G | CA272746146 | STRA6 | c.1904G>C (p.Gly635Ala) c.1880G>C (p.Gly627Ala) c.1877G>C (p.Gly626Ala) c.2015G>C (p.Gly672Ala) n.1613G>C c.2021G>C (p.Gly674Ala) c.759G>C c.1949G>C (p.Gly650Ala) n.2176G>C c.1715G>C (p.Gly572Ala) c.1952G>C (p.Gly651Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180180C>T | CA393128353 | STRA6 | c.1904G>A (p.Gly635Asp) c.1880G>A (p.Gly627Asp) c.1877G>A (p.Gly626Asp) c.2015G>A (p.Gly672Asp) n.1613G>A c.2021G>A (p.Gly674Asp) c.759G>A c.1949G>A (p.Gly650Asp) n.2176G>A c.1715G>A (p.Gly572Asp) c.1952G>A (p.Gly651Asp) | gnomAD v4 |
| 15 | g.74180181C>A | CA393128355 | STRA6 | c.1903G>T (p.Gly635Cys) c.1879G>T (p.Gly627Cys) c.1876G>T (p.Gly626Cys) c.2014G>T (p.Gly672Cys) n.1612G>T c.2020G>T (p.Gly674Cys) c.758G>T c.1948G>T (p.Gly650Cys) n.2175G>T c.1714G>T (p.Gly572Cys) c.1951G>T (p.Gly651Cys) | |
| 15 | g.74180181C= | CA2187549737 | STRA6 | c.1903G= (p.Gly635=) c.1879G= (p.Gly627=) c.1876G= (p.Gly626=) c.2014G= (p.Gly672=) n.1612G= c.2020G= (p.Gly674=) c.758G= c.1948G= (p.Gly650=) n.2175G= c.1714G= (p.Gly572=) c.1951G= (p.Gly651=) | |
| 15 | g.74180181C>G | CA393128357 | STRA6 | c.1903G>C (p.Gly635Arg) c.1879G>C (p.Gly627Arg) c.1876G>C (p.Gly626Arg) c.2014G>C (p.Gly672Arg) n.1612G>C c.2020G>C (p.Gly674Arg) c.758G>C c.1948G>C (p.Gly650Arg) n.2175G>C c.1714G>C (p.Gly572Arg) c.1951G>C (p.Gly651Arg) | |
| 15 | g.74180181C>T | CA7654391 | STRA6 | c.1903G>A (p.Gly635Ser) c.1879G>A (p.Gly627Ser) c.1876G>A (p.Gly626Ser) c.2014G>A (p.Gly672Ser) n.1612G>A c.2020G>A (p.Gly674Ser) c.758G>A c.1948G>A (p.Gly650Ser) n.2175G>A c.1714G>A (p.Gly572Ser) c.1951G>A (p.Gly651Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180182G>A | CA7654392 | STRA6 | c.1902C>T (p.Arg634=) c.1878C>T (p.Arg626=) c.1875C>T (p.Arg625=) c.2013C>T (p.Arg671=) n.1611C>T c.2019C>T (p.Arg673=) c.757C>T c.1947C>T (p.Arg649=) n.2174C>T c.1713C>T (p.Arg571=) c.1950C>T (p.Arg650=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.74180182G>C | CA491170341 | STRA6 | c.1902C>G (p.Arg634=) c.1878C>G (p.Arg626=) c.1875C>G (p.Arg625=) c.2013C>G (p.Arg671=) n.1611C>G c.2019C>G (p.Arg673=) c.757C>G c.1947C>G (p.Arg649=) n.2174C>G c.1713C>G (p.Arg571=) c.1950C>G (p.Arg650=) | |
| 15 | g.74180182G= | CA2187549738 | STRA6 | c.1902C= (p.Arg634=) c.1878C= (p.Arg626=) c.1875C= (p.Arg625=) c.2013C= (p.Arg671=) n.1611C= c.2019C= (p.Arg673=) c.757C= c.1947C= (p.Arg649=) n.2174C= c.1713C= (p.Arg571=) c.1950C= (p.Arg650=) | |
| 15 | g.74180182G>T | CA7654393 | STRA6 | c.1902C>A (p.Arg634=) c.1878C>A (p.Arg626=) c.1875C>A (p.Arg625=) c.2013C>A (p.Arg671=) n.1611C>A c.2019C>A (p.Arg673=) c.757C>A c.1947C>A (p.Arg649=) n.2174C>A c.1713C>A (p.Arg571=) c.1950C>A (p.Arg650=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180183C>A | CA393128364 | STRA6 | c.1901G>T (p.Arg634Leu) c.1877G>T (p.Arg626Leu) c.1874G>T (p.Arg625Leu) c.2012G>T (p.Arg671Leu) n.1610G>T c.2018G>T (p.Arg673Leu) c.756G>T c.1946G>T (p.Arg649Leu) n.2173G>T c.1712G>T (p.Arg571Leu) c.1949G>T (p.Arg650Leu) | COSMIC COSMIC |
| 15 | g.74180183C= | CA2187549739 | STRA6 | c.1901G= (p.Arg634=) c.1877G= (p.Arg626=) c.1874G= (p.Arg625=) c.2012G= (p.Arg671=) n.1610G= c.2018G= (p.Arg673=) c.756G= c.1946G= (p.Arg649=) n.2173G= c.1712G= (p.Arg571=) c.1949G= (p.Arg650=) | |
| 15 | g.74180183C>G | CA393128366 | STRA6 | c.1901G>C (p.Arg634Pro) c.1877G>C (p.Arg626Pro) c.1874G>C (p.Arg625Pro) c.2012G>C (p.Arg671Pro) n.1610G>C c.2018G>C (p.Arg673Pro) c.756G>C c.1946G>C (p.Arg649Pro) n.2173G>C c.1712G>C (p.Arg571Pro) c.1949G>C (p.Arg650Pro) | |
| 15 | g.74180183C>T | CA7654394 | STRA6 | c.1901G>A (p.Arg634His) c.1877G>A (p.Arg626His) c.1874G>A (p.Arg625His) c.2012G>A (p.Arg671His) n.1610G>A c.2018G>A (p.Arg673His) c.756G>A c.1946G>A (p.Arg649His) n.2173G>A c.1712G>A (p.Arg571His) c.1949G>A (p.Arg650His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180184G>A | CA7654395 | STRA6 | c.1900C>T (p.Arg634Cys) c.1876C>T (p.Arg626Cys) c.1873C>T (p.Arg625Cys) c.2011C>T (p.Arg671Cys) n.1609C>T c.2017C>T (p.Arg673Cys) c.755C>T c.1945C>T (p.Arg649Cys) n.2172C>T c.1711C>T (p.Arg571Cys) c.1948C>T (p.Arg650Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180184G>C | CA393128368 | STRA6 | c.1900C>G (p.Arg634Gly) c.1876C>G (p.Arg626Gly) c.1873C>G (p.Arg625Gly) c.2011C>G (p.Arg671Gly) n.1609C>G c.2017C>G (p.Arg673Gly) c.755C>G c.1945C>G (p.Arg649Gly) n.2172C>G c.1711C>G (p.Arg571Gly) c.1948C>G (p.Arg650Gly) | gnomAD v4 |
| 15 | g.74180184G= | CA2187549740 | STRA6 | c.1900C= (p.Arg634=) c.1876C= (p.Arg626=) c.1873C= (p.Arg625=) c.2011C= (p.Arg671=) n.1609C= c.2017C= (p.Arg673=) c.755C= c.1945C= (p.Arg649=) n.2172C= c.1711C= (p.Arg571=) c.1948C= (p.Arg650=) | |
| 15 | g.74180184G>T | CA393128369 | STRA6 | c.1900C>A (p.Arg634Ser) c.1876C>A (p.Arg626Ser) c.1873C>A (p.Arg625Ser) c.2011C>A (p.Arg671Ser) n.1609C>A c.2017C>A (p.Arg673Ser) c.755C>A c.1945C>A (p.Arg649Ser) n.2172C>A c.1711C>A (p.Arg571Ser) c.1948C>A (p.Arg650Ser) | |
| 15 | g.74180185G>A | CA491170342 | STRA6 | c.1899C>T (p.Ser633=) c.1875C>T (p.Ser625=) c.1872C>T (p.Ser624=) c.2010C>T (p.Ser670=) n.1608C>T c.2016C>T (p.Ser672=) c.754C>T c.1944C>T (p.Ser648=) n.2171C>T c.1710C>T (p.Ser570=) c.1947C>T (p.Ser649=) | |
| 15 | g.74180185G>C | CA393128373 | STRA6 | c.1899C>G (p.Ser633Arg) c.1875C>G (p.Ser625Arg) c.1872C>G (p.Ser624Arg) c.2010C>G (p.Ser670Arg) n.1608C>G c.2016C>G (p.Ser672Arg) c.754C>G c.1944C>G (p.Ser648Arg) n.2171C>G c.1710C>G (p.Ser570Arg) c.1947C>G (p.Ser649Arg) | |
| 15 | g.74180185G>T | CA393128375 | STRA6 | c.1899C>A (p.Ser633Arg) c.1875C>A (p.Ser625Arg) c.1872C>A (p.Ser624Arg) c.2010C>A (p.Ser670Arg) n.1608C>A c.2016C>A (p.Ser672Arg) c.754C>A c.1944C>A (p.Ser648Arg) n.2171C>A c.1710C>A (p.Ser570Arg) c.1947C>A (p.Ser649Arg) | |
| 15 | g.74180186C>A | CA393128378 | STRA6 | c.1898G>T (p.Ser633Ile) c.1874G>T (p.Ser625Ile) c.1871G>T (p.Ser624Ile) c.2009G>T (p.Ser670Ile) n.1607G>T c.2015G>T (p.Ser672Ile) c.753G>T c.1943G>T (p.Ser648Ile) n.2170G>T c.1709G>T (p.Ser570Ile) c.1946G>T (p.Ser649Ile) | |
| 15 | g.74180186C>G | CA393128379 | STRA6 | c.1898G>C (p.Ser633Thr) c.1874G>C (p.Ser625Thr) c.1871G>C (p.Ser624Thr) c.2009G>C (p.Ser670Thr) n.1607G>C c.2015G>C (p.Ser672Thr) c.753G>C c.1943G>C (p.Ser648Thr) n.2170G>C c.1709G>C (p.Ser570Thr) c.1946G>C (p.Ser649Thr) | |
| 15 | g.74180186C>T | CA393128382 | STRA6 | c.1898G>A (p.Ser633Asn) c.1874G>A (p.Ser625Asn) c.1871G>A (p.Ser624Asn) c.2009G>A (p.Ser670Asn) n.1607G>A c.2015G>A (p.Ser672Asn) c.753G>A c.1943G>A (p.Ser648Asn) n.2170G>A c.1709G>A (p.Ser570Asn) c.1946G>A (p.Ser649Asn) | |
| 15 | g.74180187T>A | CA393128384 | STRA6 | c.1897A>T (p.Ser633Cys) c.1873A>T (p.Ser625Cys) c.1870A>T (p.Ser624Cys) c.2008A>T (p.Ser670Cys) n.1606A>T c.2014A>T (p.Ser672Cys) c.752A>T c.1942A>T (p.Ser648Cys) n.2169A>T c.1708A>T (p.Ser570Cys) c.1945A>T (p.Ser649Cys) | |
| 15 | g.74180187T>C | CA393128387 | STRA6 | c.1897A>G (p.Ser633Gly) c.1873A>G (p.Ser625Gly) c.1870A>G (p.Ser624Gly) c.2008A>G (p.Ser670Gly) n.1606A>G c.2014A>G (p.Ser672Gly) c.752A>G c.1942A>G (p.Ser648Gly) n.2169A>G c.1708A>G (p.Ser570Gly) c.1945A>G (p.Ser649Gly) | |
| 15 | g.74180187T>G | CA393128389 | STRA6 | c.1897A>C (p.Ser633Arg) c.1873A>C (p.Ser625Arg) c.1870A>C (p.Ser624Arg) c.2008A>C (p.Ser670Arg) n.1606A>C c.2014A>C (p.Ser672Arg) c.752A>C c.1942A>C (p.Ser648Arg) n.2169A>C c.1708A>C (p.Ser570Arg) c.1945A>C (p.Ser649Arg) | |
| 15 | g.74180192_74180212del | CA2629451123 | STRA6 | c.1877_1897del (p.Lys626_Ala632del) c.1853_1873del (p.Lys618_Ala624del) c.1850_1870del (p.Lys617_Ala623del) c.1988_2008del (p.Lys663_Ala669del) n.1586_1606del c.1994_2014del (p.Lys665_Ala671del) c.732_752del c.1922_1942del (p.Lys641_Ala647del) n.2149_2169del c.1688_1708del (p.Lys563_Ala569del) c.1925_1945del (p.Lys642_Ala648del) | gnomAD v4 |
| 15 | g.74180188G>A | CA7654396 | STRA6 | c.1896C>T (p.Ala632=) c.1872C>T (p.Ala624=) c.1869C>T (p.Ala623=) c.2007C>T (p.Ala669=) n.1605C>T c.2013C>T (p.Ala671=) c.751C>T c.1941C>T (p.Ala647=) n.2168C>T c.1707C>T (p.Ala569=) c.1944C>T (p.Ala648=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180188G>C | CA491170343 | STRA6 | c.1896C>G (p.Ala632=) c.1872C>G (p.Ala624=) c.1869C>G (p.Ala623=) c.2007C>G (p.Ala669=) n.1605C>G c.2013C>G (p.Ala671=) c.751C>G c.1941C>G (p.Ala647=) n.2168C>G c.1707C>G (p.Ala569=) c.1944C>G (p.Ala648=) | |
| 15 | g.74180188G= | CA2187549741 | STRA6 | c.1896C= (p.Ala632=) c.1872C= (p.Ala624=) c.1869C= (p.Ala623=) c.2007C= (p.Ala669=) n.1605C= c.2013C= (p.Ala671=) c.751C= c.1941C= (p.Ala647=) n.2168C= c.1707C= (p.Ala569=) c.1944C= (p.Ala648=) | |
| 15 | g.74180188G>T | CA491170344 | STRA6 | c.1896C>A (p.Ala632=) c.1872C>A (p.Ala624=) c.1869C>A (p.Ala623=) c.2007C>A (p.Ala669=) n.1605C>A c.2013C>A (p.Ala671=) c.751C>A c.1941C>A (p.Ala647=) n.2168C>A c.1707C>A (p.Ala569=) c.1944C>A (p.Ala648=) | |
| 15 | g.74180189G>A | CA393128393 | STRA6 | c.1895C>T (p.Ala632Val) c.1871C>T (p.Ala624Val) c.1868C>T (p.Ala623Val) c.2006C>T (p.Ala669Val) n.1604C>T c.2012C>T (p.Ala671Val) c.750C>T c.1940C>T (p.Ala647Val) n.2167C>T c.1706C>T (p.Ala569Val) c.1943C>T (p.Ala648Val) | gnomAD v4 |
| 15 | g.74180189G>C | CA393128395 | STRA6 | c.1895C>G (p.Ala632Gly) c.1871C>G (p.Ala624Gly) c.1868C>G (p.Ala623Gly) c.2006C>G (p.Ala669Gly) n.1604C>G c.2012C>G (p.Ala671Gly) c.750C>G c.1940C>G (p.Ala647Gly) n.2167C>G c.1706C>G (p.Ala569Gly) c.1943C>G (p.Ala648Gly) | |
| 15 | g.74180189G>T | CA393128397 | STRA6 | c.1895C>A (p.Ala632Asp) c.1871C>A (p.Ala624Asp) c.1868C>A (p.Ala623Asp) c.2006C>A (p.Ala669Asp) n.1604C>A c.2012C>A (p.Ala671Asp) c.750C>A c.1940C>A (p.Ala647Asp) n.2167C>A c.1706C>A (p.Ala569Asp) c.1943C>A (p.Ala648Asp) | |
| 15 | g.74180190C>A | CA393128399 | STRA6 | c.1894G>T (p.Ala632Ser) c.1870G>T (p.Ala624Ser) c.1867G>T (p.Ala623Ser) c.2005G>T (p.Ala669Ser) n.1603G>T c.2011G>T (p.Ala671Ser) c.749G>T c.1939G>T (p.Ala647Ser) n.2166G>T c.1705G>T (p.Ala569Ser) c.1942G>T (p.Ala648Ser) | |
| 15 | g.74180190C= | CA2187549742 | STRA6 | c.1894G= (p.Ala632=) c.1870G= (p.Ala624=) c.1867G= (p.Ala623=) c.2005G= (p.Ala669=) n.1603G= c.2011G= (p.Ala671=) c.749G= c.1939G= (p.Ala647=) n.2166G= c.1705G= (p.Ala569=) c.1942G= (p.Ala648=) | |
| 15 | g.74180190C>G | CA393128405 | STRA6 | c.1894G>C (p.Ala632Pro) c.1870G>C (p.Ala624Pro) c.1867G>C (p.Ala623Pro) c.2005G>C (p.Ala669Pro) n.1603G>C c.2011G>C (p.Ala671Pro) c.749G>C c.1939G>C (p.Ala647Pro) n.2166G>C c.1705G>C (p.Ala569Pro) c.1942G>C (p.Ala648Pro) | dbSNP |
| 15 | g.74180190C>T | CA7654397 | STRA6 | c.1894G>A (p.Ala632Thr) c.1870G>A (p.Ala624Thr) c.1867G>A (p.Ala623Thr) c.2005G>A (p.Ala669Thr) n.1603G>A c.2011G>A (p.Ala671Thr) c.749G>A c.1939G>A (p.Ala647Thr) n.2166G>A c.1705G>A (p.Ala569Thr) c.1942G>A (p.Ala648Thr) | dbSNP ExAC gnomAD v4 |
| 15 | g.74180193del | CA491170345 | STRA6 | c.1894del (p.Ala632ProfsTer?) c.1870del (p.Ala624ProfsTer?) c.1867del (p.Ala623ProfsTer?) c.2005del (p.Ala669ProfsTer?) n.1603del c.2011del (p.Ala671ProfsTer?) c.749del c.1939del (p.Ala647ProfsTer?) n.2166del c.1705del (p.Ala569ProfsTer?) c.1942del (p.Ala648ProfsTer?) | COSMIC |
| 15 | g.74180191C>A | CA491170346 | STRA6 | c.1893G>T (p.Gly631=) c.1869G>T (p.Gly623=) c.1866G>T (p.Gly622=) c.2004G>T (p.Gly668=) n.1602G>T c.2010G>T (p.Gly670=) c.748G>T c.1938G>T (p.Gly646=) n.2165G>T c.1704G>T (p.Gly568=) c.1941G>T (p.Gly647=) | |
| 15 | g.74180191C= | CA2187549743 | STRA6 | c.1893G= (p.Gly631=) c.1869G= (p.Gly623=) c.1866G= (p.Gly622=) c.2004G= (p.Gly668=) n.1602G= c.2010G= (p.Gly670=) c.748G= c.1938G= (p.Gly646=) n.2165G= c.1704G= (p.Gly568=) c.1941G= (p.Gly647=) | |
| 15 | g.74180191C>G | CA491170347 | STRA6 | c.1893G>C (p.Gly631=) c.1869G>C (p.Gly623=) c.1866G>C (p.Gly622=) c.2004G>C (p.Gly668=) n.1602G>C c.2010G>C (p.Gly670=) c.748G>C c.1938G>C (p.Gly646=) n.2165G>C c.1704G>C (p.Gly568=) c.1941G>C (p.Gly647=) | dbSNP gnomAD v4 |
| 15 | g.74180191C>T | CA491170348 | STRA6 | c.1893G>A (p.Gly631=) c.1869G>A (p.Gly623=) c.1866G>A (p.Gly622=) c.2004G>A (p.Gly668=) n.1602G>A c.2010G>A (p.Gly670=) c.748G>A c.1938G>A (p.Gly646=) n.2165G>A c.1704G>A (p.Gly568=) c.1941G>A (p.Gly647=) | |
| 15 | g.74180192C>A | CA393128408 | STRA6 | c.1892G>T (p.Gly631Val) c.1868G>T (p.Gly623Val) c.1865G>T (p.Gly622Val) c.2003G>T (p.Gly668Val) n.1601G>T c.2009G>T (p.Gly670Val) c.747G>T c.1937G>T (p.Gly646Val) n.2164G>T c.1703G>T (p.Gly568Val) c.1940G>T (p.Gly647Val) | |
| 15 | g.74180192C>G | CA393128410 | STRA6 | c.1892G>C (p.Gly631Ala) c.1868G>C (p.Gly623Ala) c.1865G>C (p.Gly622Ala) c.2003G>C (p.Gly668Ala) n.1601G>C c.2009G>C (p.Gly670Ala) c.747G>C c.1937G>C (p.Gly646Ala) n.2164G>C c.1703G>C (p.Gly568Ala) c.1940G>C (p.Gly647Ala) | |
| 15 | g.74180192C>T | CA393128412 | STRA6 | c.1892G>A (p.Gly631Glu) c.1868G>A (p.Gly623Glu) c.1865G>A (p.Gly622Glu) c.2003G>A (p.Gly668Glu) n.1601G>A c.2009G>A (p.Gly670Glu) c.747G>A c.1937G>A (p.Gly646Glu) n.2164G>A c.1703G>A (p.Gly568Glu) c.1940G>A (p.Gly647Glu) | |
| 15 | g.74180193C>A | CA393128415 | STRA6 | c.1891G>T (p.Gly631Trp) c.1867G>T (p.Gly623Trp) c.1864G>T (p.Gly622Trp) c.2002G>T (p.Gly668Trp) n.1600G>T c.2008G>T (p.Gly670Trp) c.746G>T c.1936G>T (p.Gly646Trp) n.2163G>T c.1702G>T (p.Gly568Trp) c.1939G>T (p.Gly647Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.74180193C= | CA2187549744 | STRA6 | c.1891G= (p.Gly631=) c.1867G= (p.Gly623=) c.1864G= (p.Gly622=) c.2002G= (p.Gly668=) n.1600G= c.2008G= (p.Gly670=) c.746G= c.1936G= (p.Gly646=) n.2163G= c.1702G= (p.Gly568=) c.1939G= (p.Gly647=) | |
| 15 | g.74180193C>G | CA393128417 | STRA6 | c.1891G>C (p.Gly631Arg) c.1867G>C (p.Gly623Arg) c.1864G>C (p.Gly622Arg) c.2002G>C (p.Gly668Arg) n.1600G>C c.2008G>C (p.Gly670Arg) c.746G>C c.1936G>C (p.Gly646Arg) n.2163G>C c.1702G>C (p.Gly568Arg) c.1939G>C (p.Gly647Arg) | |
| 15 | g.74180193C>T | CA7654398 | STRA6 | c.1891G>A (p.Gly631Arg) c.1867G>A (p.Gly623Arg) c.1864G>A (p.Gly622Arg) c.2002G>A (p.Gly668Arg) n.1600G>A c.2008G>A (p.Gly670Arg) c.746G>A c.1936G>A (p.Gly646Arg) n.2163G>A c.1702G>A (p.Gly568Arg) c.1939G>A (p.Gly647Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180194G>A | CA7654399 | STRA6 | c.1890C>T (p.Pro630=) c.1866C>T (p.Pro622=) c.1863C>T (p.Pro621=) c.2001C>T (p.Pro667=) n.1599C>T c.2007C>T (p.Pro669=) c.745C>T c.1935C>T (p.Pro645=) n.2162C>T c.1701C>T (p.Pro567=) c.1938C>T (p.Pro646=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180194G>C | CA491170349 | STRA6 | c.1890C>G (p.Pro630=) c.1866C>G (p.Pro622=) c.1863C>G (p.Pro621=) c.2001C>G (p.Pro667=) n.1599C>G c.2007C>G (p.Pro669=) c.745C>G c.1935C>G (p.Pro645=) n.2162C>G c.1701C>G (p.Pro567=) c.1938C>G (p.Pro646=) | dbSNP |
| 15 | g.74180194G= | CA2187549745 | STRA6 | c.1890C= (p.Pro630=) c.1866C= (p.Pro622=) c.1863C= (p.Pro621=) c.2001C= (p.Pro667=) n.1599C= c.2007C= (p.Pro669=) c.745C= c.1935C= (p.Pro645=) n.2162C= c.1701C= (p.Pro567=) c.1938C= (p.Pro646=) | |
| 15 | g.74180194G>T | CA491170350 | STRA6 | c.1890C>A (p.Pro630=) c.1866C>A (p.Pro622=) c.1863C>A (p.Pro621=) c.2001C>A (p.Pro667=) n.1599C>A c.2007C>A (p.Pro669=) c.745C>A c.1935C>A (p.Pro645=) n.2162C>A c.1701C>A (p.Pro567=) c.1938C>A (p.Pro646=) | gnomAD v3 gnomAD v4 |
| 15 | g.74180196del | CA2575786905 | STRA6 | c.1890del (p.Ala632ProfsTer?) c.1866del (p.Ala624ProfsTer?) c.1863del (p.Ala623ProfsTer?) c.2001del (p.Ala669ProfsTer?) n.1599del c.2007del (p.Ala671ProfsTer?) c.745del c.1935del (p.Ala647ProfsTer?) n.2162del c.1701del (p.Ala569ProfsTer?) c.1938del (p.Ala648ProfsTer?) | gnomAD v4 |
| 15 | g.74180195G>A | CA393128424 | STRA6 | c.1889C>T (p.Pro630Leu) c.1865C>T (p.Pro622Leu) c.1862C>T (p.Pro621Leu) c.2000C>T (p.Pro667Leu) n.1598C>T c.2006C>T (p.Pro669Leu) c.744C>T c.1934C>T (p.Pro645Leu) n.2161C>T c.1700C>T (p.Pro567Leu) c.1937C>T (p.Pro646Leu) | gnomAD v4 |
| 15 | g.74180195G>C | CA393128426 | STRA6 | c.1889C>G (p.Pro630Arg) c.1865C>G (p.Pro622Arg) c.1862C>G (p.Pro621Arg) c.2000C>G (p.Pro667Arg) n.1598C>G c.2006C>G (p.Pro669Arg) c.744C>G c.1934C>G (p.Pro645Arg) n.2161C>G c.1700C>G (p.Pro567Arg) c.1937C>G (p.Pro646Arg) | |
| 15 | g.74180195G>T | CA393128428 | STRA6 | c.1889C>A (p.Pro630His) c.1865C>A (p.Pro622His) c.1862C>A (p.Pro621His) c.2000C>A (p.Pro667His) n.1598C>A c.2006C>A (p.Pro669His) c.744C>A c.1934C>A (p.Pro645His) n.2161C>A c.1700C>A (p.Pro567His) c.1937C>A (p.Pro646His) | |
| 15 | g.74180196G>A | CA393128431 | STRA6 | c.1888C>T (p.Pro630Ser) c.1864C>T (p.Pro622Ser) c.1861C>T (p.Pro621Ser) c.1999C>T (p.Pro667Ser) n.1597C>T c.2005C>T (p.Pro669Ser) c.743C>T c.1933C>T (p.Pro645Ser) n.2160C>T c.1699C>T (p.Pro567Ser) c.1936C>T (p.Pro646Ser) | gnomAD v4 |
| 15 | g.74180196G>C | CA393128432 | STRA6 | c.1888C>G (p.Pro630Ala) c.1864C>G (p.Pro622Ala) c.1861C>G (p.Pro621Ala) c.1999C>G (p.Pro667Ala) n.1597C>G c.2005C>G (p.Pro669Ala) c.743C>G c.1933C>G (p.Pro645Ala) n.2160C>G c.1699C>G (p.Pro567Ala) c.1936C>G (p.Pro646Ala) | COSMIC |
| 15 | g.74180196G>T | CA393128434 | STRA6 | c.1888C>A (p.Pro630Thr) c.1864C>A (p.Pro622Thr) c.1861C>A (p.Pro621Thr) c.1999C>A (p.Pro667Thr) n.1597C>A c.2005C>A (p.Pro669Thr) c.743C>A c.1933C>A (p.Pro645Thr) n.2160C>A c.1699C>A (p.Pro567Thr) c.1936C>A (p.Pro646Thr) | |
| 15 | g.74180197C>A | CA393128436 | STRA6 | c.1887G>T (p.Arg629Ser) c.1863G>T (p.Arg621Ser) c.1860G>T (p.Arg620Ser) c.1998G>T (p.Arg666Ser) n.1596G>T c.2004G>T (p.Arg668Ser) c.742G>T c.1932G>T (p.Arg644Ser) n.2159G>T c.1698G>T (p.Arg566Ser) c.1935G>T (p.Arg645Ser) | |
| 15 | g.74180197C= | CA2187549746 | STRA6 | c.1887G= (p.Arg629=) c.1863G= (p.Arg621=) c.1860G= (p.Arg620=) c.1998G= (p.Arg666=) n.1596G= c.2004G= (p.Arg668=) c.742G= c.1932G= (p.Arg644=) n.2159G= c.1698G= (p.Arg566=) c.1935G= (p.Arg645=) | |
| 15 | g.74180197C>G | CA393128438 | STRA6 | c.1887G>C (p.Arg629Ser) c.1863G>C (p.Arg621Ser) c.1860G>C (p.Arg620Ser) c.1998G>C (p.Arg666Ser) n.1596G>C c.2004G>C (p.Arg668Ser) c.742G>C c.1932G>C (p.Arg644Ser) n.2159G>C c.1698G>C (p.Arg566Ser) c.1935G>C (p.Arg645Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74180197C>T | CA491170351 | STRA6 | c.1887G>A (p.Arg629=) c.1863G>A (p.Arg621=) c.1860G>A (p.Arg620=) c.1998G>A (p.Arg666=) n.1596G>A c.2004G>A (p.Arg668=) c.742G>A c.1932G>A (p.Arg644=) n.2159G>A c.1698G>A (p.Arg566=) c.1935G>A (p.Arg645=) | |
| 15 | g.74180198C>A | CA393128441 | STRA6 | c.1886G>T (p.Arg629Met) c.1862G>T (p.Arg621Met) c.1859G>T (p.Arg620Met) c.1997G>T (p.Arg666Met) n.1595G>T c.2003G>T (p.Arg668Met) c.741G>T c.1931G>T (p.Arg644Met) n.2158G>T c.1697G>T (p.Arg566Met) c.1934G>T (p.Arg645Met) | |
| 15 | g.74180198C= | CA2187549747 | STRA6 | c.1886G= (p.Arg629=) c.1862G= (p.Arg621=) c.1859G= (p.Arg620=) c.1997G= (p.Arg666=) n.1595G= c.2003G= (p.Arg668=) c.741G= c.1931G= (p.Arg644=) n.2158G= c.1697G= (p.Arg566=) c.1934G= (p.Arg645=) | |
| 15 | g.74180198C>G | CA272746208 | STRA6 | c.1886G>C (p.Arg629Thr) c.1862G>C (p.Arg621Thr) c.1859G>C (p.Arg620Thr) c.1997G>C (p.Arg666Thr) n.1595G>C c.2003G>C (p.Arg668Thr) c.741G>C c.1931G>C (p.Arg644Thr) n.2158G>C c.1697G>C (p.Arg566Thr) c.1934G>C (p.Arg645Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74180198C>T | CA393128444 | STRA6 | c.1886G>A (p.Arg629Lys) c.1862G>A (p.Arg621Lys) c.1859G>A (p.Arg620Lys) c.1997G>A (p.Arg666Lys) n.1595G>A c.2003G>A (p.Arg668Lys) c.741G>A c.1931G>A (p.Arg644Lys) n.2158G>A c.1697G>A (p.Arg566Lys) c.1934G>A (p.Arg645Lys) | |
| 15 | g.74180199T>A | CA393128446 | STRA6 | c.1885A>T (p.Arg629Trp) c.1861A>T (p.Arg621Trp) c.1858A>T (p.Arg620Trp) c.1996A>T (p.Arg666Trp) n.1594A>T c.2002A>T (p.Arg668Trp) c.740A>T c.1930A>T (p.Arg644Trp) n.2157A>T c.1696A>T (p.Arg566Trp) c.1933A>T (p.Arg645Trp) | |
| 15 | g.74180199T>C | CA393128449 | STRA6 | c.1885A>G (p.Arg629Gly) c.1861A>G (p.Arg621Gly) c.1858A>G (p.Arg620Gly) c.1996A>G (p.Arg666Gly) n.1594A>G c.2002A>G (p.Arg668Gly) c.740A>G c.1930A>G (p.Arg644Gly) n.2157A>G c.1696A>G (p.Arg566Gly) c.1933A>G (p.Arg645Gly) | dbSNP |
| 15 | g.74180199T>G | CA491170352 | STRA6 | c.1885A>C (p.Arg629=) c.1861A>C (p.Arg621=) c.1858A>C (p.Arg620=) c.1996A>C (p.Arg666=) n.1594A>C c.2002A>C (p.Arg668=) c.740A>C c.1930A>C (p.Arg644=) n.2157A>C c.1696A>C (p.Arg566=) c.1933A>C (p.Arg645=) | |
| 15 | g.74180199T= | CA2187549748 | STRA6 | c.1885A= (p.Arg629=) c.1861A= (p.Arg621=) c.1858A= (p.Arg620=) c.1996A= (p.Arg666=) n.1594A= c.2002A= (p.Arg668=) c.740A= c.1930A= (p.Arg644=) n.2157A= c.1696A= (p.Arg566=) c.1933A= (p.Arg645=) | |
| 15 | g.74180200A= | CA2187549749 | STRA6 | c.1884T= (p.Ala628=) c.1860T= (p.Ala620=) c.1857T= (p.Ala619=) c.1995T= (p.Ala665=) n.1593T= c.2001T= (p.Ala667=) c.739T= c.1929T= (p.Ala643=) n.2156T= c.1695T= (p.Ala565=) c.1932T= (p.Ala644=) | |
| 15 | g.74180200A>C | CA491170353 | STRA6 | c.1884T>G (p.Ala628=) c.1860T>G (p.Ala620=) c.1857T>G (p.Ala619=) c.1995T>G (p.Ala665=) n.1593T>G c.2001T>G (p.Ala667=) c.739T>G c.1929T>G (p.Ala643=) n.2156T>G c.1695T>G (p.Ala565=) c.1932T>G (p.Ala644=) | dbSNP |
| 15 | g.74180200A>G | CA491170354 | STRA6 | c.1884T>C (p.Ala628=) c.1860T>C (p.Ala620=) c.1857T>C (p.Ala619=) c.1995T>C (p.Ala665=) n.1593T>C c.2001T>C (p.Ala667=) c.739T>C c.1929T>C (p.Ala643=) n.2156T>C c.1695T>C (p.Ala565=) c.1932T>C (p.Ala644=) | dbSNP |
| 15 | g.74180200A>T | CA491170355 | STRA6 | c.1884T>A (p.Ala628=) c.1860T>A (p.Ala620=) c.1857T>A (p.Ala619=) c.1995T>A (p.Ala665=) n.1593T>A c.2001T>A (p.Ala667=) c.739T>A c.1929T>A (p.Ala643=) n.2156T>A c.1695T>A (p.Ala565=) c.1932T>A (p.Ala644=) | |
| 15 | g.74180201G>A | CA272746210 | STRA6 | c.1883C>T (p.Ala628Val) c.1859C>T (p.Ala620Val) c.1856C>T (p.Ala619Val) c.1994C>T (p.Ala665Val) n.1592C>T c.2000C>T (p.Ala667Val) c.738C>T c.1928C>T (p.Ala643Val) n.2155C>T c.1694C>T (p.Ala565Val) c.1931C>T (p.Ala644Val) | dbSNP gnomAD v4 |
| 15 | g.74180201G>C | CA393128453 | STRA6 | c.1883C>G (p.Ala628Gly) c.1859C>G (p.Ala620Gly) c.1856C>G (p.Ala619Gly) c.1994C>G (p.Ala665Gly) n.1592C>G c.2000C>G (p.Ala667Gly) c.738C>G c.1928C>G (p.Ala643Gly) n.2155C>G c.1694C>G (p.Ala565Gly) c.1931C>G (p.Ala644Gly) | gnomAD v4 |
| 15 | g.74180201G= | CA2187549750 | STRA6 | c.1883C= (p.Ala628=) c.1859C= (p.Ala620=) c.1856C= (p.Ala619=) c.1994C= (p.Ala665=) n.1592C= c.2000C= (p.Ala667=) c.738C= c.1928C= (p.Ala643=) n.2155C= c.1694C= (p.Ala565=) c.1931C= (p.Ala644=) | |
| 15 | g.74180201G>T | CA393128455 | STRA6 | c.1883C>A (p.Ala628Asp) c.1859C>A (p.Ala620Asp) c.1856C>A (p.Ala619Asp) c.1994C>A (p.Ala665Asp) n.1592C>A c.2000C>A (p.Ala667Asp) c.738C>A c.1928C>A (p.Ala643Asp) n.2155C>A c.1694C>A (p.Ala565Asp) c.1931C>A (p.Ala644Asp) | gnomAD v4 |
| 15 | g.74180202C>A | CA393128458 | STRA6 | c.1882G>T (p.Ala628Ser) c.1858G>T (p.Ala620Ser) c.1855G>T (p.Ala619Ser) c.1993G>T (p.Ala665Ser) n.1591G>T c.1999G>T (p.Ala667Ser) c.737G>T c.1927G>T (p.Ala643Ser) n.2154G>T c.1693G>T (p.Ala565Ser) c.1930G>T (p.Ala644Ser) | |
| 15 | g.74180202C= | CA2187549751 | STRA6 | c.1882G= (p.Ala628=) c.1858G= (p.Ala620=) c.1855G= (p.Ala619=) c.1993G= (p.Ala665=) n.1591G= c.1999G= (p.Ala667=) c.737G= c.1927G= (p.Ala643=) n.2154G= c.1693G= (p.Ala565=) c.1930G= (p.Ala644=) | |
| 15 | g.74180202C>G | CA393128461 | STRA6 | c.1882G>C (p.Ala628Pro) c.1858G>C (p.Ala620Pro) c.1855G>C (p.Ala619Pro) c.1993G>C (p.Ala665Pro) n.1591G>C c.1999G>C (p.Ala667Pro) c.737G>C c.1927G>C (p.Ala643Pro) n.2154G>C c.1693G>C (p.Ala565Pro) c.1930G>C (p.Ala644Pro) | |
| 15 | g.74180202C>T | CA272746213 | STRA6 | c.1882G>A (p.Ala628Thr) c.1858G>A (p.Ala620Thr) c.1855G>A (p.Ala619Thr) c.1993G>A (p.Ala665Thr) n.1591G>A c.1999G>A (p.Ala667Thr) c.737G>A c.1927G>A (p.Ala643Thr) n.2154G>A c.1693G>A (p.Ala565Thr) c.1930G>A (p.Ala644Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74180203T>A | CA491170356 | STRA6 | c.1881A>T (p.Gly627=) c.1857A>T (p.Gly619=) c.1854A>T (p.Gly618=) c.1992A>T (p.Gly664=) n.1590A>T c.1998A>T (p.Gly666=) c.736A>T c.1926A>T (p.Gly642=) n.2153A>T c.1692A>T (p.Gly564=) c.1929A>T (p.Gly643=) | |
| 15 | g.74180203T>C | CA491170357 | STRA6 | c.1881A>G (p.Gly627=) c.1857A>G (p.Gly619=) c.1854A>G (p.Gly618=) c.1992A>G (p.Gly664=) n.1590A>G c.1998A>G (p.Gly666=) c.736A>G c.1926A>G (p.Gly642=) n.2153A>G c.1692A>G (p.Gly564=) c.1929A>G (p.Gly643=) | |
| 15 | g.74180203T>G | CA491170358 | STRA6 | c.1881A>C (p.Gly627=) c.1857A>C (p.Gly619=) c.1854A>C (p.Gly618=) c.1992A>C (p.Gly664=) n.1590A>C c.1998A>C (p.Gly666=) c.736A>C c.1926A>C (p.Gly642=) n.2153A>C c.1692A>C (p.Gly564=) c.1929A>C (p.Gly643=) | |
| 15 | g.74180203_74180205delinsTCC | CA2187549752 | STRA6 | c.1879_1881delinsGGA (p.Gly627=) c.1855_1857delinsGGA (p.Gly619=) c.1852_1854delinsGGA (p.Gly618=) c.1990_1992delinsGGA (p.Gly664=) n.1588_1590delinsGGA c.1996_1998delinsGGA (p.Gly666=) c.734_736delinsGGA c.1924_1926delinsGGA (p.Gly642=) n.2151_2153delinsGGA c.1690_1692delinsGGA (p.Gly564=) c.1927_1929delinsGGA (p.Gly643=) | |
| 15 | g.74180204C>A | CA393128468 | STRA6 | c.1880G>T (p.Gly627Val) c.1856G>T (p.Gly619Val) c.1853G>T (p.Gly618Val) c.1991G>T (p.Gly664Val) n.1589G>T c.1997G>T (p.Gly666Val) c.735G>T c.1925G>T (p.Gly642Val) n.2152G>T c.1691G>T (p.Gly564Val) c.1928G>T (p.Gly643Val) | |
| 15 | g.74180204C>G | CA393128470 | STRA6 | c.1880G>C (p.Gly627Ala) c.1856G>C (p.Gly619Ala) c.1853G>C (p.Gly618Ala) c.1991G>C (p.Gly664Ala) n.1589G>C c.1997G>C (p.Gly666Ala) c.735G>C c.1925G>C (p.Gly642Ala) n.2152G>C c.1691G>C (p.Gly564Ala) c.1928G>C (p.Gly643Ala) | |
| 15 | g.74180204C>T | CA393128466 | STRA6 | c.1880G>A (p.Gly627Glu) c.1856G>A (p.Gly619Glu) c.1853G>A (p.Gly618Glu) c.1991G>A (p.Gly664Glu) n.1589G>A c.1997G>A (p.Gly666Glu) c.735G>A c.1925G>A (p.Gly642Glu) n.2152G>A c.1691G>A (p.Gly564Glu) c.1928G>A (p.Gly643Glu) | ClinVar |
| 15 | g.74180205_74180206del | CA619411558 | STRA6 | c.1879_1880del (p.Gly627SerfsTer2) c.1855_1856del (p.Gly619SerfsTer2) c.1852_1853del (p.Gly618SerfsTer2) c.1990_1991del (p.Gly664SerfsTer2) n.1588_1589del c.1996_1997del (p.Gly666SerfsTer2) c.734_735del c.1924_1925del (p.Gly642SerfsTer2) n.2151_2152del c.1690_1691del (p.Gly564SerfsTer2) c.1927_1928del (p.Gly643SerfsTer2) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74180205C>A | CA393128472 | STRA6 | c.1879G>T (p.Gly627Ter) c.1855G>T (p.Gly619Ter) c.1852G>T (p.Gly618Ter) c.1990G>T (p.Gly664Ter) n.1588G>T c.1996G>T (p.Gly666Ter) c.734G>T c.1924G>T (p.Gly642Ter) n.2151G>T c.1690G>T (p.Gly564Ter) c.1927G>T (p.Gly643Ter) | |
| 15 | g.74180205C>G | CA393128475 | STRA6 | c.1879G>C (p.Gly627Arg) c.1855G>C (p.Gly619Arg) c.1852G>C (p.Gly618Arg) c.1990G>C (p.Gly664Arg) n.1588G>C c.1996G>C (p.Gly666Arg) c.734G>C c.1924G>C (p.Gly642Arg) n.2151G>C c.1690G>C (p.Gly564Arg) c.1927G>C (p.Gly643Arg) | gnomAD v4 |
| 15 | g.74180205C>T | CA393128477 | STRA6 | c.1879G>A (p.Gly627Arg) c.1855G>A (p.Gly619Arg) c.1852G>A (p.Gly618Arg) c.1990G>A (p.Gly664Arg) n.1588G>A c.1996G>A (p.Gly666Arg) c.734G>A c.1924G>A (p.Gly642Arg) n.2151G>A c.1690G>A (p.Gly564Arg) c.1927G>A (p.Gly643Arg) | COSMIC COSMIC |
| 15 | g.74180206C>A | CA393128479 | STRA6 | c.1878G>T (p.Lys626Asn) c.1854G>T (p.Lys618Asn) c.1851G>T (p.Lys617Asn) c.1989G>T (p.Lys663Asn) n.1587G>T c.1995G>T (p.Lys665Asn) c.733G>T c.1923G>T (p.Lys641Asn) n.2150G>T c.1689G>T (p.Lys563Asn) c.1926G>T (p.Lys642Asn) | |
| 15 | g.74180206C>G | CA393128481 | STRA6 | c.1878G>C (p.Lys626Asn) c.1854G>C (p.Lys618Asn) c.1851G>C (p.Lys617Asn) c.1989G>C (p.Lys663Asn) n.1587G>C c.1995G>C (p.Lys665Asn) c.733G>C c.1923G>C (p.Lys641Asn) n.2150G>C c.1689G>C (p.Lys563Asn) c.1926G>C (p.Lys642Asn) | |
| 15 | g.74180206C>T | CA491170359 | STRA6 | c.1878G>A (p.Lys626=) c.1854G>A (p.Lys618=) c.1851G>A (p.Lys617=) c.1989G>A (p.Lys663=) n.1587G>A c.1995G>A (p.Lys665=) c.733G>A c.1923G>A (p.Lys641=) n.2150G>A c.1689G>A (p.Lys563=) c.1926G>A (p.Lys642=) | |
| 15 | g.74180207T>A | CA393128488 | STRA6 | c.1877A>T (p.Lys626Met) c.1853A>T (p.Lys618Met) c.1850A>T (p.Lys617Met) c.1988A>T (p.Lys663Met) n.1586A>T c.1994A>T (p.Lys665Met) c.732A>T c.1922A>T (p.Lys641Met) n.2149A>T c.1688A>T (p.Lys563Met) c.1925A>T (p.Lys642Met) | |
| 15 | g.74180207T>C | CA393128486 | STRA6 | c.1877A>G (p.Lys626Arg) c.1853A>G (p.Lys618Arg) c.1850A>G (p.Lys617Arg) c.1988A>G (p.Lys663Arg) n.1586A>G c.1994A>G (p.Lys665Arg) c.732A>G c.1922A>G (p.Lys641Arg) n.2149A>G c.1688A>G (p.Lys563Arg) c.1925A>G (p.Lys642Arg) | dbSNP |
| 15 | g.74180207T>G | CA393128484 | STRA6 | c.1877A>C (p.Lys626Thr) c.1853A>C (p.Lys618Thr) c.1850A>C (p.Lys617Thr) c.1988A>C (p.Lys663Thr) n.1586A>C c.1994A>C (p.Lys665Thr) c.732A>C c.1922A>C (p.Lys641Thr) n.2149A>C c.1688A>C (p.Lys563Thr) c.1925A>C (p.Lys642Thr) | |
| 15 | g.74180207T= | CA2187549753 | STRA6 | c.1877A= (p.Lys626=) c.1853A= (p.Lys618=) c.1850A= (p.Lys617=) c.1988A= (p.Lys663=) n.1586A= c.1994A= (p.Lys665=) c.732A= c.1922A= (p.Lys641=) n.2149A= c.1688A= (p.Lys563=) c.1925A= (p.Lys642=) | |
| 15 | g.74180208T>A | CA393128491 | STRA6 | c.1876A>T (p.Lys626Ter) c.1852A>T (p.Lys618Ter) c.1849A>T (p.Lys617Ter) c.1987A>T (p.Lys663Ter) n.1585A>T c.1993A>T (p.Lys665Ter) c.731A>T c.1921A>T (p.Lys641Ter) n.2148A>T c.1687A>T (p.Lys563Ter) c.1924A>T (p.Lys642Ter) | |
| 15 | g.74180208T>C | CA393128493 | STRA6 | c.1876A>G (p.Lys626Glu) c.1852A>G (p.Lys618Glu) c.1849A>G (p.Lys617Glu) c.1987A>G (p.Lys663Glu) n.1585A>G c.1993A>G (p.Lys665Glu) c.731A>G c.1921A>G (p.Lys641Glu) n.2148A>G c.1687A>G (p.Lys563Glu) c.1924A>G (p.Lys642Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180208T>G | CA393128495 | STRA6 | c.1876A>C (p.Lys626Gln) c.1852A>C (p.Lys618Gln) c.1849A>C (p.Lys617Gln) c.1987A>C (p.Lys663Gln) n.1585A>C c.1993A>C (p.Lys665Gln) c.731A>C c.1921A>C (p.Lys641Gln) n.2148A>C c.1687A>C (p.Lys563Gln) c.1924A>C (p.Lys642Gln) | |
| 15 | g.74180208T= | CA2187549754 | STRA6 | c.1876A= (p.Lys626=) c.1852A= (p.Lys618=) c.1849A= (p.Lys617=) c.1987A= (p.Lys663=) n.1585A= c.1993A= (p.Lys665=) c.731A= c.1921A= (p.Lys641=) n.2148A= c.1687A= (p.Lys563=) c.1924A= (p.Lys642=) | |
| 15 | g.74180209G>A | CA272746216 | STRA6 | c.1875C>T (p.Ala625=) c.1851C>T (p.Ala617=) c.1848C>T (p.Ala616=) c.1986C>T (p.Ala662=) n.1584C>T c.1992C>T (p.Ala664=) c.730C>T c.1920C>T (p.Ala640=) n.2147C>T c.1686C>T (p.Ala562=) c.1923C>T (p.Ala641=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180209G>C | CA491170361 | STRA6 | c.1875C>G (p.Ala625=) c.1851C>G (p.Ala617=) c.1848C>G (p.Ala616=) c.1986C>G (p.Ala662=) n.1584C>G c.1992C>G (p.Ala664=) c.730C>G c.1920C>G (p.Ala640=) n.2147C>G c.1686C>G (p.Ala562=) c.1923C>G (p.Ala641=) | |
| 15 | g.74180209G= | CA2187549755 | STRA6 | c.1875C= (p.Ala625=) c.1851C= (p.Ala617=) c.1848C= (p.Ala616=) c.1986C= (p.Ala662=) n.1584C= c.1992C= (p.Ala664=) c.730C= c.1920C= (p.Ala640=) n.2147C= c.1686C= (p.Ala562=) c.1923C= (p.Ala641=) | |
| 15 | g.74180209G>T | CA491170360 | STRA6 | c.1875C>A (p.Ala625=) c.1851C>A (p.Ala617=) c.1848C>A (p.Ala616=) c.1986C>A (p.Ala662=) n.1584C>A c.1992C>A (p.Ala664=) c.730C>A c.1920C>A (p.Ala640=) n.2147C>A c.1686C>A (p.Ala562=) c.1923C>A (p.Ala641=) | |
| 15 | g.74180210G>A | CA393128500 | STRA6 | c.1874C>T (p.Ala625Val) c.1850C>T (p.Ala617Val) c.1847C>T (p.Ala616Val) c.1985C>T (p.Ala662Val) n.1583C>T c.1991C>T (p.Ala664Val) c.729C>T c.1919C>T (p.Ala640Val) n.2146C>T c.1685C>T (p.Ala562Val) c.1922C>T (p.Ala641Val) | |
| 15 | g.74180210G>C | CA393128502 | STRA6 | c.1874C>G (p.Ala625Gly) c.1850C>G (p.Ala617Gly) c.1847C>G (p.Ala616Gly) c.1985C>G (p.Ala662Gly) n.1583C>G c.1991C>G (p.Ala664Gly) c.729C>G c.1919C>G (p.Ala640Gly) n.2146C>G c.1685C>G (p.Ala562Gly) c.1922C>G (p.Ala641Gly) | |
| 15 | g.74180210G>T | CA393128503 | STRA6 | c.1874C>A (p.Ala625Asp) c.1850C>A (p.Ala617Asp) c.1847C>A (p.Ala616Asp) c.1985C>A (p.Ala662Asp) n.1583C>A c.1991C>A (p.Ala664Asp) c.729C>A c.1919C>A (p.Ala640Asp) n.2146C>A c.1685C>A (p.Ala562Asp) c.1922C>A (p.Ala641Asp) | |
| 15 | g.74180211C>A | CA393128509 | STRA6 | c.1873G>T (p.Ala625Ser) c.1849G>T (p.Ala617Ser) c.1846G>T (p.Ala616Ser) c.1984G>T (p.Ala662Ser) n.1582G>T c.1990G>T (p.Ala664Ser) c.728G>T c.1918G>T (p.Ala640Ser) n.2145G>T c.1684G>T (p.Ala562Ser) c.1921G>T (p.Ala641Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74180211C= | CA2187549756 | STRA6 | c.1873G= (p.Ala625=) c.1849G= (p.Ala617=) c.1846G= (p.Ala616=) c.1984G= (p.Ala662=) n.1582G= c.1990G= (p.Ala664=) c.728G= c.1918G= (p.Ala640=) n.2145G= c.1684G= (p.Ala562=) c.1921G= (p.Ala641=) | |
| 15 | g.74180211C>G | CA393128512 | STRA6 | c.1873G>C (p.Ala625Pro) c.1849G>C (p.Ala617Pro) c.1846G>C (p.Ala616Pro) c.1984G>C (p.Ala662Pro) n.1582G>C c.1990G>C (p.Ala664Pro) c.728G>C c.1918G>C (p.Ala640Pro) n.2145G>C c.1684G>C (p.Ala562Pro) c.1921G>C (p.Ala641Pro) | |
| 15 | g.74180211C>T | CA7654400 | STRA6 | c.1873G>A (p.Ala625Thr) c.1849G>A (p.Ala617Thr) c.1846G>A (p.Ala616Thr) c.1984G>A (p.Ala662Thr) n.1582G>A c.1990G>A (p.Ala664Thr) c.728G>A c.1918G>A (p.Ala640Thr) n.2145G>A c.1684G>A (p.Ala562Thr) c.1921G>A (p.Ala641Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180212C>A | CA393128516 | STRA6 | c.1872G>T (p.Met624Ile) c.1848G>T (p.Met616Ile) c.1845G>T (p.Met615Ile) c.1983G>T (p.Met661Ile) n.1581G>T c.1989G>T (p.Met663Ile) c.727G>T c.1917G>T (p.Met639Ile) n.2144G>T c.1683G>T (p.Met561Ile) c.1920G>T (p.Met640Ile) | |
| 15 | g.74180212C>G | CA393128518 | STRA6 | c.1872G>C (p.Met624Ile) c.1848G>C (p.Met616Ile) c.1845G>C (p.Met615Ile) c.1983G>C (p.Met661Ile) n.1581G>C c.1989G>C (p.Met663Ile) c.727G>C c.1917G>C (p.Met639Ile) n.2144G>C c.1683G>C (p.Met561Ile) c.1920G>C (p.Met640Ile) | |
| 15 | g.74180212C>T | CA393128520 | STRA6 | c.1872G>A (p.Met624Ile) c.1848G>A (p.Met616Ile) c.1845G>A (p.Met615Ile) c.1983G>A (p.Met661Ile) n.1581G>A c.1989G>A (p.Met663Ile) c.727G>A c.1917G>A (p.Met639Ile) n.2144G>A c.1683G>A (p.Met561Ile) c.1920G>A (p.Met640Ile) | |
| 15 | g.74180213A= | CA2187549757 | STRA6 | c.1871T= (p.Met624=) c.1847T= (p.Met616=) c.1844T= (p.Met615=) c.1982T= (p.Met661=) n.1580T= c.1988T= (p.Met663=) c.726T= c.1916T= (p.Met639=) n.2143T= c.1682T= (p.Met561=) c.1919T= (p.Met640=) | |
| 15 | g.74180213A>C | CA393128523 | STRA6 | c.1871T>G (p.Met624Arg) c.1847T>G (p.Met616Arg) c.1844T>G (p.Met615Arg) c.1982T>G (p.Met661Arg) n.1580T>G c.1988T>G (p.Met663Arg) c.726T>G c.1916T>G (p.Met639Arg) n.2143T>G c.1682T>G (p.Met561Arg) c.1919T>G (p.Met640Arg) | |
| 15 | g.74180213A>G | CA7654402 | STRA6 | c.1871T>C (p.Met624Thr) c.1847T>C (p.Met616Thr) c.1844T>C (p.Met615Thr) c.1982T>C (p.Met661Thr) n.1580T>C c.1988T>C (p.Met663Thr) c.726T>C c.1916T>C (p.Met639Thr) n.2143T>C c.1682T>C (p.Met561Thr) c.1919T>C (p.Met640Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180213A>T | CA7654401 | STRA6 | c.1871T>A (p.Met624Lys) c.1847T>A (p.Met616Lys) c.1844T>A (p.Met615Lys) c.1982T>A (p.Met661Lys) n.1580T>A c.1988T>A (p.Met663Lys) c.726T>A c.1916T>A (p.Met639Lys) n.2143T>A c.1682T>A (p.Met561Lys) c.1919T>A (p.Met640Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180214T>A | CA393128527 | STRA6 | c.1870A>T (p.Met624Leu) c.1846A>T (p.Met616Leu) c.1843A>T (p.Met615Leu) c.1981A>T (p.Met661Leu) n.1579A>T c.1987A>T (p.Met663Leu) c.725A>T c.1915A>T (p.Met639Leu) n.2142A>T c.1681A>T (p.Met561Leu) c.1918A>T (p.Met640Leu) | |
| 15 | g.74180214T>C | CA393128529 | STRA6 | c.1870A>G (p.Met624Val) c.1846A>G (p.Met616Val) c.1843A>G (p.Met615Val) c.1981A>G (p.Met661Val) n.1579A>G c.1987A>G (p.Met663Val) c.725A>G c.1915A>G (p.Met639Val) n.2142A>G c.1681A>G (p.Met561Val) c.1918A>G (p.Met640Val) | dbSNP |
| 15 | g.74180214T>G | CA393128532 | STRA6 | c.1870A>C (p.Met624Leu) c.1846A>C (p.Met616Leu) c.1843A>C (p.Met615Leu) c.1981A>C (p.Met661Leu) n.1579A>C c.1987A>C (p.Met663Leu) c.725A>C c.1915A>C (p.Met639Leu) n.2142A>C c.1681A>C (p.Met561Leu) c.1918A>C (p.Met640Leu) | |
| 15 | g.74180214T= | CA2187549758 | STRA6 | c.1870A= (p.Met624=) c.1846A= (p.Met616=) c.1843A= (p.Met615=) c.1981A= (p.Met661=) n.1579A= c.1987A= (p.Met663=) c.725A= c.1915A= (p.Met639=) n.2142A= c.1681A= (p.Met561=) c.1918A= (p.Met640=) | |
| 15 | g.74180215G>A | CA491170362 | STRA6 | c.1869C>T (p.Ser623=) c.1845C>T (p.Ser615=) c.1842C>T (p.Ser614=) c.1980C>T (p.Ser660=) n.1578C>T c.1986C>T (p.Ser662=) c.724C>T c.1914C>T (p.Ser638=) n.2141C>T c.1680C>T (p.Ser560=) c.1917C>T (p.Ser639=) | gnomAD v4 |
| 15 | g.74180215G>C | CA491170364 | STRA6 | c.1869C>G (p.Ser623=) c.1845C>G (p.Ser615=) c.1842C>G (p.Ser614=) c.1980C>G (p.Ser660=) n.1578C>G c.1986C>G (p.Ser662=) c.724C>G c.1914C>G (p.Ser638=) n.2141C>G c.1680C>G (p.Ser560=) c.1917C>G (p.Ser639=) | |
| 15 | g.74180215G>T | CA491170363 | STRA6 | c.1869C>A (p.Ser623=) c.1845C>A (p.Ser615=) c.1842C>A (p.Ser614=) c.1980C>A (p.Ser660=) n.1578C>A c.1986C>A (p.Ser662=) c.724C>A c.1914C>A (p.Ser638=) n.2141C>A c.1680C>A (p.Ser560=) c.1917C>A (p.Ser639=) | |
| 15 | g.74180216G>A | CA272746235 | STRA6 | c.1868C>T (p.Ser623Phe) c.1844C>T (p.Ser615Phe) c.1841C>T (p.Ser614Phe) c.1979C>T (p.Ser660Phe) n.1577C>T c.1985C>T (p.Ser662Phe) c.723C>T c.1913C>T (p.Ser638Phe) n.2140C>T c.1679C>T (p.Ser560Phe) c.1916C>T (p.Ser639Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74180216G>C | CA393128536 | STRA6 | c.1868C>G (p.Ser623Cys) c.1844C>G (p.Ser615Cys) c.1841C>G (p.Ser614Cys) c.1979C>G (p.Ser660Cys) n.1577C>G c.1985C>G (p.Ser662Cys) c.723C>G c.1913C>G (p.Ser638Cys) n.2140C>G c.1679C>G (p.Ser560Cys) c.1916C>G (p.Ser639Cys) | |
| 15 | g.74180216G= | CA2187549759 | STRA6 | c.1868C= (p.Ser623=) c.1844C= (p.Ser615=) c.1841C= (p.Ser614=) c.1979C= (p.Ser660=) n.1577C= c.1985C= (p.Ser662=) c.723C= c.1913C= (p.Ser638=) n.2140C= c.1679C= (p.Ser560=) c.1916C= (p.Ser639=) | |
| 15 | g.74180216G>T | CA393128537 | STRA6 | c.1868C>A (p.Ser623Tyr) c.1844C>A (p.Ser615Tyr) c.1841C>A (p.Ser614Tyr) c.1979C>A (p.Ser660Tyr) n.1577C>A c.1985C>A (p.Ser662Tyr) c.723C>A c.1913C>A (p.Ser638Tyr) n.2140C>A c.1679C>A (p.Ser560Tyr) c.1916C>A (p.Ser639Tyr) | |
| 15 | g.74180217A= | CA2187549760 | STRA6 | c.1867T= (p.Ser623=) c.1843T= (p.Ser615=) c.1840T= (p.Ser614=) c.1978T= (p.Ser660=) n.1576T= c.1984T= (p.Ser662=) c.722T= c.1912T= (p.Ser638=) n.2139T= c.1678T= (p.Ser560=) c.1915T= (p.Ser639=) | |
| 15 | g.74180217A>C | CA7654403 | STRA6 | c.1867T>G (p.Ser623Ala) c.1843T>G (p.Ser615Ala) c.1840T>G (p.Ser614Ala) c.1978T>G (p.Ser660Ala) n.1576T>G c.1984T>G (p.Ser662Ala) c.722T>G c.1912T>G (p.Ser638Ala) n.2139T>G c.1678T>G (p.Ser560Ala) c.1915T>G (p.Ser639Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180217A>G | CA393128542 | STRA6 | c.1867T>C (p.Ser623Pro) c.1843T>C (p.Ser615Pro) c.1840T>C (p.Ser614Pro) c.1978T>C (p.Ser660Pro) n.1576T>C c.1984T>C (p.Ser662Pro) c.722T>C c.1912T>C (p.Ser638Pro) n.2139T>C c.1678T>C (p.Ser560Pro) c.1915T>C (p.Ser639Pro) | |
| 15 | g.74180217A>T | CA393128540 | STRA6 | c.1867T>A (p.Ser623Thr) c.1843T>A (p.Ser615Thr) c.1840T>A (p.Ser614Thr) c.1978T>A (p.Ser660Thr) n.1576T>A c.1984T>A (p.Ser662Thr) c.722T>A c.1912T>A (p.Ser638Thr) n.2139T>A c.1678T>A (p.Ser560Thr) c.1915T>A (p.Ser639Thr) | |
| 15 | g.74180218G>A | CA491170365 | STRA6 | c.1866C>T (p.Asp622=) c.1842C>T (p.Asp614=) c.1839C>T (p.Asp613=) c.1977C>T (p.Asp659=) n.1575C>T c.1983C>T (p.Asp661=) c.721C>T c.1911C>T (p.Asp637=) n.2138C>T c.1677C>T (p.Asp559=) c.1914C>T (p.Asp638=) | dbSNP |
| 15 | g.74180218G>C | CA393128543 | STRA6 | c.1866C>G (p.Asp622Glu) c.1842C>G (p.Asp614Glu) c.1839C>G (p.Asp613Glu) c.1977C>G (p.Asp659Glu) n.1575C>G c.1983C>G (p.Asp661Glu) c.721C>G c.1911C>G (p.Asp637Glu) n.2138C>G c.1677C>G (p.Asp559Glu) c.1914C>G (p.Asp638Glu) | |
| 15 | g.74180218G= | CA2187549761 | STRA6 | c.1866C= (p.Asp622=) c.1842C= (p.Asp614=) c.1839C= (p.Asp613=) c.1977C= (p.Asp659=) n.1575C= c.1983C= (p.Asp661=) c.721C= c.1911C= (p.Asp637=) n.2138C= c.1677C= (p.Asp559=) c.1914C= (p.Asp638=) | |
| 15 | g.74180218G>T | CA393128545 | STRA6 | c.1866C>A (p.Asp622Glu) c.1842C>A (p.Asp614Glu) c.1839C>A (p.Asp613Glu) c.1977C>A (p.Asp659Glu) n.1575C>A c.1983C>A (p.Asp661Glu) c.721C>A c.1911C>A (p.Asp637Glu) n.2138C>A c.1677C>A (p.Asp559Glu) c.1914C>A (p.Asp638Glu) | gnomAD v4 |
| 15 | g.74180219T>A | CA393128548 | STRA6 | c.1865A>T (p.Asp622Val) c.1841A>T (p.Asp614Val) c.1838A>T (p.Asp613Val) c.1976A>T (p.Asp659Val) n.1574A>T c.1982A>T (p.Asp661Val) c.720A>T c.1910A>T (p.Asp637Val) n.2137A>T c.1676A>T (p.Asp559Val) c.1913A>T (p.Asp638Val) | |
| 15 | g.74180219T>C | CA393128550 | STRA6 | c.1865A>G (p.Asp622Gly) c.1841A>G (p.Asp614Gly) c.1838A>G (p.Asp613Gly) c.1976A>G (p.Asp659Gly) n.1574A>G c.1982A>G (p.Asp661Gly) c.720A>G c.1910A>G (p.Asp637Gly) n.2137A>G c.1676A>G (p.Asp559Gly) c.1913A>G (p.Asp638Gly) | dbSNP |
| 15 | g.74180219T>G | CA393128551 | STRA6 | c.1865A>C (p.Asp622Ala) c.1841A>C (p.Asp614Ala) c.1838A>C (p.Asp613Ala) c.1976A>C (p.Asp659Ala) n.1574A>C c.1982A>C (p.Asp661Ala) c.720A>C c.1910A>C (p.Asp637Ala) n.2137A>C c.1676A>C (p.Asp559Ala) c.1913A>C (p.Asp638Ala) | |
| 15 | g.74180219T= | CA2187549762 | STRA6 | c.1865A= (p.Asp622=) c.1841A= (p.Asp614=) c.1838A= (p.Asp613=) c.1976A= (p.Asp659=) n.1574A= c.1982A= (p.Asp661=) c.720A= c.1910A= (p.Asp637=) n.2137A= c.1676A= (p.Asp559=) c.1913A= (p.Asp638=) | |
| 15 | g.74180220C>A | CA393128553 | STRA6 | c.1864G>T (p.Asp622Tyr) c.1840G>T (p.Asp614Tyr) c.1837G>T (p.Asp613Tyr) c.1975G>T (p.Asp659Tyr) n.1573G>T c.1981G>T (p.Asp661Tyr) c.719G>T c.1909G>T (p.Asp637Tyr) n.2136G>T c.1675G>T (p.Asp559Tyr) c.1912G>T (p.Asp638Tyr) | |
| 15 | g.74180220C>G | CA393128555 | STRA6 | c.1864G>C (p.Asp622His) c.1840G>C (p.Asp614His) c.1837G>C (p.Asp613His) c.1975G>C (p.Asp659His) n.1573G>C c.1981G>C (p.Asp661His) c.719G>C c.1909G>C (p.Asp637His) n.2136G>C c.1675G>C (p.Asp559His) c.1912G>C (p.Asp638His) | |
| 15 | g.74180220C>T | CA393128557 | STRA6 | c.1864G>A (p.Asp622Asn) c.1840G>A (p.Asp614Asn) c.1837G>A (p.Asp613Asn) c.1975G>A (p.Asp659Asn) n.1573G>A c.1981G>A (p.Asp661Asn) c.719G>A c.1909G>A (p.Asp637Asn) n.2136G>A c.1675G>A (p.Asp559Asn) c.1912G>A (p.Asp638Asn) | COSMIC COSMIC |
| 15 | g.74180221C>A | CA393128559 | STRA6 | c.1863G>T (p.Lys621Asn) c.1839G>T (p.Lys613Asn) c.1836G>T (p.Lys612Asn) c.1974G>T (p.Lys658Asn) n.1572G>T c.1980G>T (p.Lys660Asn) c.718G>T c.1908G>T (p.Lys636Asn) n.2135G>T c.1674G>T (p.Lys558Asn) c.1911G>T (p.Lys637Asn) | |
| 15 | g.74180221C>G | CA393128561 | STRA6 | c.1863G>C (p.Lys621Asn) c.1839G>C (p.Lys613Asn) c.1836G>C (p.Lys612Asn) c.1974G>C (p.Lys658Asn) n.1572G>C c.1980G>C (p.Lys660Asn) c.718G>C c.1908G>C (p.Lys636Asn) n.2135G>C c.1674G>C (p.Lys558Asn) c.1911G>C (p.Lys637Asn) | |
| 15 | g.74180221C>T | CA491170367 | STRA6 | c.1863G>A (p.Lys621=) c.1839G>A (p.Lys613=) c.1836G>A (p.Lys612=) c.1974G>A (p.Lys658=) n.1572G>A c.1980G>A (p.Lys660=) c.718G>A c.1908G>A (p.Lys636=) n.2135G>A c.1674G>A (p.Lys558=) c.1911G>A (p.Lys637=) | |
| 15 | g.74180221_74180224dup | CA491170366 | STRA6 | c.1860_1863dup (p.Asp622LysfsTer9) c.1836_1839dup (p.Asp614LysfsTer9) c.1833_1836dup (p.Asp613LysfsTer9) c.1971_1974dup (p.Asp659LysfsTer9) n.1569_1572dup c.1977_1980dup (p.Asp661LysfsTer9) c.715_718dup c.1905_1908dup (p.Asp637LysfsTer9) n.2132_2135dup c.1671_1674dup (p.Asp559LysfsTer9) c.1908_1911dup (p.Asp638LysfsTer9) | gnomAD v4 |
| 15 | g.74180222T>A | CA393128564 | STRA6 | c.1862A>T (p.Lys621Met) c.1838A>T (p.Lys613Met) c.1835A>T (p.Lys612Met) c.1973A>T (p.Lys658Met) n.1571A>T c.1979A>T (p.Lys660Met) c.717A>T c.1907A>T (p.Lys636Met) n.2134A>T c.1673A>T (p.Lys558Met) c.1910A>T (p.Lys637Met) | |
| 15 | g.74180222T>C | CA272746237 | STRA6 | c.1862A>G (p.Lys621Arg) c.1838A>G (p.Lys613Arg) c.1835A>G (p.Lys612Arg) c.1973A>G (p.Lys658Arg) n.1571A>G c.1979A>G (p.Lys660Arg) c.717A>G c.1907A>G (p.Lys636Arg) n.2134A>G c.1673A>G (p.Lys558Arg) c.1910A>G (p.Lys637Arg) | dbSNP gnomAD v4 |
| 15 | g.74180222T>G | CA393128567 | STRA6 | c.1862A>C (p.Lys621Thr) c.1838A>C (p.Lys613Thr) c.1835A>C (p.Lys612Thr) c.1973A>C (p.Lys658Thr) n.1571A>C c.1979A>C (p.Lys660Thr) c.717A>C c.1907A>C (p.Lys636Thr) n.2134A>C c.1673A>C (p.Lys558Thr) c.1910A>C (p.Lys637Thr) | |
| 15 | g.74180222T= | CA2187549763 | STRA6 | c.1862A= (p.Lys621=) c.1838A= (p.Lys613=) c.1835A= (p.Lys612=) c.1973A= (p.Lys658=) n.1571A= c.1979A= (p.Lys660=) c.717A= c.1907A= (p.Lys636=) n.2134A= c.1673A= (p.Lys558=) c.1910A= (p.Lys637=) | |
| 15 | g.74180223T>A | CA393128574 | STRA6 | c.1861A>T (p.Lys621Ter) c.1837A>T (p.Lys613Ter) c.1834A>T (p.Lys612Ter) c.1972A>T (p.Lys658Ter) n.1570A>T c.1978A>T (p.Lys660Ter) c.716A>T c.1906A>T (p.Lys636Ter) n.2133A>T c.1672A>T (p.Lys558Ter) c.1909A>T (p.Lys637Ter) | |
| 15 | g.74180223T>C | CA393128570 | STRA6 | c.1861A>G (p.Lys621Glu) c.1837A>G (p.Lys613Glu) c.1834A>G (p.Lys612Glu) c.1972A>G (p.Lys658Glu) n.1570A>G c.1978A>G (p.Lys660Glu) c.716A>G c.1906A>G (p.Lys636Glu) n.2133A>G c.1672A>G (p.Lys558Glu) c.1909A>G (p.Lys637Glu) | |
| 15 | g.74180223T>G | CA393128572 | STRA6 | c.1861A>C (p.Lys621Gln) c.1837A>C (p.Lys613Gln) c.1834A>C (p.Lys612Gln) c.1972A>C (p.Lys658Gln) n.1570A>C c.1978A>C (p.Lys660Gln) c.716A>C c.1906A>C (p.Lys636Gln) n.2133A>C c.1672A>C (p.Lys558Gln) c.1909A>C (p.Lys637Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74180223_74180227delinsTTGTC | CA2187549764 | STRA6 | c.1857_1861delinsGACAA (p.Gln619=) c.1833_1837delinsGACAA (p.Gln611=) c.1830_1834delinsGACAA (p.Gln610=) c.1968_1972delinsGACAA (p.Gln656=) n.1566_1570delinsGACAA c.1974_1978delinsGACAA (p.Gln658=) c.712_716delinsGACAA c.1902_1906delinsGACAA (p.Gln634=) n.2129_2133delinsGACAA c.1668_1672delinsGACAA (p.Gln556=) c.1905_1909delinsGACAA (p.Gln635=) | |
| 15 | g.74180224T>A | CA491170368 | STRA6 | c.1860A>T (p.Thr620=) c.1836A>T (p.Thr612=) c.1833A>T (p.Thr611=) c.1971A>T (p.Thr657=) n.1569A>T c.1977A>T (p.Thr659=) c.715A>T c.1905A>T (p.Thr635=) n.2132A>T c.1671A>T (p.Thr557=) c.1908A>T (p.Thr636=) | |
| 15 | g.74180224T>C | CA491170369 | STRA6 | c.1860A>G (p.Thr620=) c.1836A>G (p.Thr612=) c.1833A>G (p.Thr611=) c.1971A>G (p.Thr657=) n.1569A>G c.1977A>G (p.Thr659=) c.715A>G c.1905A>G (p.Thr635=) n.2132A>G c.1671A>G (p.Thr557=) c.1908A>G (p.Thr636=) | |
| 15 | g.74180224T>G | CA491170370 | STRA6 | c.1860A>C (p.Thr620=) c.1836A>C (p.Thr612=) c.1833A>C (p.Thr611=) c.1971A>C (p.Thr657=) n.1569A>C c.1977A>C (p.Thr659=) c.715A>C c.1905A>C (p.Thr635=) n.2132A>C c.1671A>C (p.Thr557=) c.1908A>C (p.Thr636=) | |
| 15 | g.74180227_74180230del | CA7654404 | STRA6 | c.1857_1860del (p.Thr620ArgfsTer?) c.1833_1836del (p.Thr612ArgfsTer?) c.1830_1833del (p.Thr611ArgfsTer?) c.1968_1971del (p.Thr657ArgfsTer?) n.1566_1569del c.1974_1977del (p.Thr659ArgfsTer?) c.712_715del c.1902_1905del (p.Thr635ArgfsTer?) n.2129_2132del c.1668_1671del (p.Thr557ArgfsTer?) c.1905_1908del (p.Thr636ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180225G>A | CA393128578 | STRA6 | c.1859C>T (p.Thr620Ile) c.1835C>T (p.Thr612Ile) c.1832C>T (p.Thr611Ile) c.1970C>T (p.Thr657Ile) n.1568C>T c.1976C>T (p.Thr659Ile) c.714C>T c.1904C>T (p.Thr635Ile) n.2131C>T c.1670C>T (p.Thr557Ile) c.1907C>T (p.Thr636Ile) | |
| 15 | g.74180225G>C | CA393128581 | STRA6 | c.1859C>G (p.Thr620Arg) c.1835C>G (p.Thr612Arg) c.1832C>G (p.Thr611Arg) c.1970C>G (p.Thr657Arg) n.1568C>G c.1976C>G (p.Thr659Arg) c.714C>G c.1904C>G (p.Thr635Arg) n.2131C>G c.1670C>G (p.Thr557Arg) c.1907C>G (p.Thr636Arg) | |
| 15 | g.74180225G>T | CA393128583 | STRA6 | c.1859C>A (p.Thr620Lys) c.1835C>A (p.Thr612Lys) c.1832C>A (p.Thr611Lys) c.1970C>A (p.Thr657Lys) n.1568C>A c.1976C>A (p.Thr659Lys) c.714C>A c.1904C>A (p.Thr635Lys) n.2131C>A c.1670C>A (p.Thr557Lys) c.1907C>A (p.Thr636Lys) | |
| 15 | g.74180226T>A | CA393128587 | STRA6 | c.1858A>T (p.Thr620Ser) c.1834A>T (p.Thr612Ser) c.1831A>T (p.Thr611Ser) c.1969A>T (p.Thr657Ser) n.1567A>T c.1975A>T (p.Thr659Ser) c.713A>T c.1903A>T (p.Thr635Ser) n.2130A>T c.1669A>T (p.Thr557Ser) c.1906A>T (p.Thr636Ser) | |
| 15 | g.74180226T>C | CA272746241 | STRA6 | c.1858A>G (p.Thr620Ala) c.1834A>G (p.Thr612Ala) c.1831A>G (p.Thr611Ala) c.1969A>G (p.Thr657Ala) n.1567A>G c.1975A>G (p.Thr659Ala) c.713A>G c.1903A>G (p.Thr635Ala) n.2130A>G c.1669A>G (p.Thr557Ala) c.1906A>G (p.Thr636Ala) | dbSNP gnomAD v4 |
| 15 | g.74180226T>G | CA393128591 | STRA6 | c.1858A>C (p.Thr620Pro) c.1834A>C (p.Thr612Pro) c.1831A>C (p.Thr611Pro) c.1969A>C (p.Thr657Pro) n.1567A>C c.1975A>C (p.Thr659Pro) c.713A>C c.1903A>C (p.Thr635Pro) n.2130A>C c.1669A>C (p.Thr557Pro) c.1906A>C (p.Thr636Pro) | |
| 15 | g.74180226T= | CA2187549765 | STRA6 | c.1858A= (p.Thr620=) c.1834A= (p.Thr612=) c.1831A= (p.Thr611=) c.1969A= (p.Thr657=) n.1567A= c.1975A= (p.Thr659=) c.713A= c.1903A= (p.Thr635=) n.2130A= c.1669A= (p.Thr557=) c.1906A= (p.Thr636=) | |
| 15 | g.74180227C>A | CA272746244 | STRA6 | c.1857G>T (p.Gln619His) c.1833G>T (p.Gln611His) c.1830G>T (p.Gln610His) c.1968G>T (p.Gln656His) n.1566G>T c.1974G>T (p.Gln658His) c.712G>T c.1902G>T (p.Gln634His) n.2129G>T c.1668G>T (p.Gln556His) c.1905G>T (p.Gln635His) | dbSNP gnomAD v4 |
| 15 | g.74180227C= | CA2187549766 | STRA6 | c.1857G= (p.Gln619=) c.1833G= (p.Gln611=) c.1830G= (p.Gln610=) c.1968G= (p.Gln656=) n.1566G= c.1974G= (p.Gln658=) c.712G= c.1902G= (p.Gln634=) n.2129G= c.1668G= (p.Gln556=) c.1905G= (p.Gln635=) | |
| 15 | g.74180227C>G | CA393128594 | STRA6 | c.1857G>C (p.Gln619His) c.1833G>C (p.Gln611His) c.1830G>C (p.Gln610His) c.1968G>C (p.Gln656His) n.1566G>C c.1974G>C (p.Gln658His) c.712G>C c.1902G>C (p.Gln634His) n.2129G>C c.1668G>C (p.Gln556His) c.1905G>C (p.Gln635His) | |
| 15 | g.74180227C>T | CA491170371 | STRA6 | c.1857G>A (p.Gln619=) c.1833G>A (p.Gln611=) c.1830G>A (p.Gln610=) c.1968G>A (p.Gln656=) n.1566G>A c.1974G>A (p.Gln658=) c.712G>A c.1902G>A (p.Gln634=) n.2129G>A c.1668G>A (p.Gln556=) c.1905G>A (p.Gln635=) | |
| 15 | g.74180228T>A | CA393128597 | STRA6 | c.1856A>T (p.Gln619Leu) c.1832A>T (p.Gln611Leu) c.1829A>T (p.Gln610Leu) c.1967A>T (p.Gln656Leu) n.1565A>T c.1973A>T (p.Gln658Leu) c.711A>T c.1901A>T (p.Gln634Leu) n.2128A>T c.1667A>T (p.Gln556Leu) c.1904A>T (p.Gln635Leu) | |
| 15 | g.74180228T>C | CA393128599 | STRA6 | c.1856A>G (p.Gln619Arg) c.1832A>G (p.Gln611Arg) c.1829A>G (p.Gln610Arg) c.1967A>G (p.Gln656Arg) n.1565A>G c.1973A>G (p.Gln658Arg) c.711A>G c.1901A>G (p.Gln634Arg) n.2128A>G c.1667A>G (p.Gln556Arg) c.1904A>G (p.Gln635Arg) | gnomAD v4 |
| 15 | g.74180228T>G | CA393128600 | STRA6 | c.1856A>C (p.Gln619Pro) c.1832A>C (p.Gln611Pro) c.1829A>C (p.Gln610Pro) c.1967A>C (p.Gln656Pro) n.1565A>C c.1973A>C (p.Gln658Pro) c.711A>C c.1901A>C (p.Gln634Pro) n.2128A>C c.1667A>C (p.Gln556Pro) c.1904A>C (p.Gln635Pro) | |
| 15 | g.74180229G>A | CA393128604 | STRA6 | c.1855C>T (p.Gln619Ter) c.1831C>T (p.Gln611Ter) c.1828C>T (p.Gln610Ter) c.1966C>T (p.Gln656Ter) n.1564C>T c.1972C>T (p.Gln658Ter) c.710C>T c.1900C>T (p.Gln634Ter) n.2127C>T c.1666C>T (p.Gln556Ter) c.1903C>T (p.Gln635Ter) | gnomAD v4 |
| 15 | g.74180229G>C | CA393128608 | STRA6 | c.1855C>G (p.Gln619Glu) c.1831C>G (p.Gln611Glu) c.1828C>G (p.Gln610Glu) c.1966C>G (p.Gln656Glu) n.1564C>G c.1972C>G (p.Gln658Glu) c.710C>G c.1900C>G (p.Gln634Glu) n.2127C>G c.1666C>G (p.Gln556Glu) c.1903C>G (p.Gln635Glu) | |
| 15 | g.74180229G>T | CA393128605 | STRA6 | c.1855C>A (p.Gln619Lys) c.1831C>A (p.Gln611Lys) c.1828C>A (p.Gln610Lys) c.1966C>A (p.Gln656Lys) n.1564C>A c.1972C>A (p.Gln658Lys) c.710C>A c.1900C>A (p.Gln634Lys) n.2127C>A c.1666C>A (p.Gln556Lys) c.1903C>A (p.Gln635Lys) | |
| 15 | g.74180230T>A | CA491170372 | STRA6 | c.1854A>T (p.Leu618=) c.1830A>T (p.Leu610=) c.1827A>T (p.Leu609=) c.1965A>T (p.Leu655=) n.1563A>T c.1971A>T (p.Leu657=) c.709A>T c.1899A>T (p.Leu633=) n.2126A>T c.1665A>T (p.Leu555=) c.1902A>T (p.Leu634=) | |
| 15 | g.74180230T>C | CA7654405 | STRA6 | c.1854A>G (p.Leu618=) c.1830A>G (p.Leu610=) c.1827A>G (p.Leu609=) c.1965A>G (p.Leu655=) n.1563A>G c.1971A>G (p.Leu657=) c.709A>G c.1899A>G (p.Leu633=) n.2126A>G c.1665A>G (p.Leu555=) c.1902A>G (p.Leu634=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180230T>G | CA491170373 | STRA6 | c.1854A>C (p.Leu618=) c.1830A>C (p.Leu610=) c.1827A>C (p.Leu609=) c.1965A>C (p.Leu655=) n.1563A>C c.1971A>C (p.Leu657=) c.709A>C c.1899A>C (p.Leu633=) n.2126A>C c.1665A>C (p.Leu555=) c.1902A>C (p.Leu634=) | |
| 15 | g.74180230T= | CA2187549767 | STRA6 | c.1854A= (p.Leu618=) c.1830A= (p.Leu610=) c.1827A= (p.Leu609=) c.1965A= (p.Leu655=) n.1563A= c.1971A= (p.Leu657=) c.709A= c.1899A= (p.Leu633=) n.2126A= c.1665A= (p.Leu555=) c.1902A= (p.Leu634=) | |
| 15 | g.74180231A>C | CA393128617 | STRA6 | c.1853T>G (p.Leu618Arg) c.1829T>G (p.Leu610Arg) c.1826T>G (p.Leu609Arg) c.1964T>G (p.Leu655Arg) n.1562T>G c.1970T>G (p.Leu657Arg) c.708T>G c.1898T>G (p.Leu633Arg) n.2125T>G c.1664T>G (p.Leu555Arg) c.1901T>G (p.Leu634Arg) | |
| 15 | g.74180231A>G | CA393128613 | STRA6 | c.1853T>C (p.Leu618Pro) c.1829T>C (p.Leu610Pro) c.1826T>C (p.Leu609Pro) c.1964T>C (p.Leu655Pro) n.1562T>C c.1970T>C (p.Leu657Pro) c.708T>C c.1898T>C (p.Leu633Pro) n.2125T>C c.1664T>C (p.Leu555Pro) c.1901T>C (p.Leu634Pro) | gnomAD v4 |
| 15 | g.74180231A>T | CA393128615 | STRA6 | c.1853T>A (p.Leu618Gln) c.1829T>A (p.Leu610Gln) c.1826T>A (p.Leu609Gln) c.1964T>A (p.Leu655Gln) n.1562T>A c.1970T>A (p.Leu657Gln) c.708T>A c.1898T>A (p.Leu633Gln) n.2125T>A c.1664T>A (p.Leu555Gln) c.1901T>A (p.Leu634Gln) | |
| 15 | g.74180232G>A | CA491170374 | STRA6 | c.1852C>T (p.Leu618=) c.1828C>T (p.Leu610=) c.1825C>T (p.Leu609=) c.1963C>T (p.Leu655=) n.1561C>T c.1969C>T (p.Leu657=) c.707C>T c.1897C>T (p.Leu633=) n.2124C>T c.1663C>T (p.Leu555=) c.1900C>T (p.Leu634=) | gnomAD v4 |
| 15 | g.74180232G>C | CA393128620 | STRA6 | c.1852C>G (p.Leu618Val) c.1828C>G (p.Leu610Val) c.1825C>G (p.Leu609Val) c.1963C>G (p.Leu655Val) n.1561C>G c.1969C>G (p.Leu657Val) c.707C>G c.1897C>G (p.Leu633Val) n.2124C>G c.1663C>G (p.Leu555Val) c.1900C>G (p.Leu634Val) | |
| 15 | g.74180232G>T | CA393128622 | STRA6 | c.1852C>A (p.Leu618Ile) c.1828C>A (p.Leu610Ile) c.1825C>A (p.Leu609Ile) c.1963C>A (p.Leu655Ile) n.1561C>A c.1969C>A (p.Leu657Ile) c.707C>A c.1897C>A (p.Leu633Ile) n.2124C>A c.1663C>A (p.Leu555Ile) c.1900C>A (p.Leu634Ile) | |
| 15 | g.74180233C>A | CA7654406 | STRA6 | c.1851G>T (p.Leu617=) c.1827G>T (p.Leu609=) c.1824G>T (p.Leu608=) c.1962G>T (p.Leu654=) n.1560G>T c.1968G>T (p.Leu656=) c.706G>T c.1896G>T (p.Leu632=) n.2123G>T c.1662G>T (p.Leu554=) c.1899G>T (p.Leu633=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180233C= | CA2187549768 | STRA6 | c.1851G= (p.Leu617=) c.1827G= (p.Leu609=) c.1824G= (p.Leu608=) c.1962G= (p.Leu654=) n.1560G= c.1968G= (p.Leu656=) c.706G= c.1896G= (p.Leu632=) n.2123G= c.1662G= (p.Leu554=) c.1899G= (p.Leu633=) | |
| 15 | g.74180233C>G | CA491170375 | STRA6 | c.1851G>C (p.Leu617=) c.1827G>C (p.Leu609=) c.1824G>C (p.Leu608=) c.1962G>C (p.Leu654=) n.1560G>C c.1968G>C (p.Leu656=) c.706G>C c.1896G>C (p.Leu632=) n.2123G>C c.1662G>C (p.Leu554=) c.1899G>C (p.Leu633=) | |
| 15 | g.74180233C>T | CA491170376 | STRA6 | c.1851G>A (p.Leu617=) c.1827G>A (p.Leu609=) c.1824G>A (p.Leu608=) c.1962G>A (p.Leu654=) n.1560G>A c.1968G>A (p.Leu656=) c.706G>A c.1896G>A (p.Leu632=) n.2123G>A c.1662G>A (p.Leu554=) c.1899G>A (p.Leu633=) | |
| 15 | g.74180234A>C | CA393128626 | STRA6 | c.1850T>G (p.Leu617Arg) c.1826T>G (p.Leu609Arg) c.1823T>G (p.Leu608Arg) c.1961T>G (p.Leu654Arg) n.1559T>G c.1967T>G (p.Leu656Arg) c.705T>G c.1895T>G (p.Leu632Arg) n.2122T>G c.1661T>G (p.Leu554Arg) c.1898T>G (p.Leu633Arg) | |
| 15 | g.74180234A>G | CA393128629 | STRA6 | c.1850T>C (p.Leu617Pro) c.1826T>C (p.Leu609Pro) c.1823T>C (p.Leu608Pro) c.1961T>C (p.Leu654Pro) n.1559T>C c.1967T>C (p.Leu656Pro) c.705T>C c.1895T>C (p.Leu632Pro) n.2122T>C c.1661T>C (p.Leu554Pro) c.1898T>C (p.Leu633Pro) | |
| 15 | g.74180234A>T | CA393128631 | STRA6 | c.1850T>A (p.Leu617Gln) c.1826T>A (p.Leu609Gln) c.1823T>A (p.Leu608Gln) c.1961T>A (p.Leu654Gln) n.1559T>A c.1967T>A (p.Leu656Gln) c.705T>A c.1895T>A (p.Leu632Gln) n.2122T>A c.1661T>A (p.Leu554Gln) c.1898T>A (p.Leu633Gln) |