Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.91272808G>A | CA7308564 | CCDC88C | c.5904C>T (p.Val1968=) c.1338C>T (p.Val446=) c.2132C>T c.5796C>T (p.Val1932=) c.2985C>T (p.Val995=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272808G>C | CA487828654 | CCDC88C | c.5904C>G (p.Val1968=) c.1338C>G (p.Val446=) c.2132C>G c.5796C>G (p.Val1932=) c.2985C>G (p.Val995=) | |
14 | g.91272808G= | CA2154900478 | CCDC88C | c.5904C= (p.Val1968=) c.1338C= (p.Val446=) c.2132C= c.5796C= (p.Val1932=) c.2985C= (p.Val995=) | |
14 | g.91272808G>T | CA487828656 | CCDC88C | c.5904C>A (p.Val1968=) c.1338C>A (p.Val446=) c.2132C>A c.5796C>A (p.Val1932=) c.2985C>A (p.Val995=) | gnomAD v4 |
14 | g.91272809A>C | CA390608498 | CCDC88C | c.5903T>G (p.Val1968Gly) c.1337T>G (p.Val446Gly) c.2131T>G c.5795T>G (p.Val1932Gly) c.2984T>G (p.Val995Gly) | |
14 | g.91272809A>G | CA390608501 | CCDC88C | c.5903T>C (p.Val1968Ala) c.1337T>C (p.Val446Ala) c.2131T>C c.5795T>C (p.Val1932Ala) c.2984T>C (p.Val995Ala) | gnomAD v4 |
14 | g.91272809A>T | CA390608504 | CCDC88C | c.5903T>A (p.Val1968Asp) c.1337T>A (p.Val446Asp) c.2131T>A c.5795T>A (p.Val1932Asp) c.2984T>A (p.Val995Asp) | |
14 | g.91272810C>A | CA390608507 | CCDC88C | c.5902G>T (p.Val1968Phe) c.1336G>T (p.Val446Phe) c.2130G>T c.5794G>T (p.Val1932Phe) c.2983G>T (p.Val995Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272810C= | CA2154900486 | CCDC88C | c.5902G= (p.Val1968=) c.1336G= (p.Val446=) c.2130G= c.5794G= (p.Val1932=) c.2983G= (p.Val995=) | |
14 | g.91272810C>G | CA390608509 | CCDC88C | c.5902G>C (p.Val1968Leu) c.1336G>C (p.Val446Leu) c.2130G>C c.5794G>C (p.Val1932Leu) c.2983G>C (p.Val995Leu) | |
14 | g.91272810C>T | CA390608512 | CCDC88C | c.5902G>A (p.Val1968Ile) c.1336G>A (p.Val446Ile) c.2130G>A c.5794G>A (p.Val1932Ile) c.2983G>A (p.Val995Ile) | |
14 | g.91272813dup | CA2626127324 | CCDC88C | c.5902dup (p.Val1968GlyfsTer8) c.1336dup (p.Val446GlyfsTer8) c.2130dup c.5794dup (p.Val1932GlyfsTer8) c.2983dup (p.Val995GlyfsTer8) | gnomAD v4 |
14 | g.91272813del | CA2626127325 | CCDC88C | c.5902del (p.Val1968SerfsTer?) c.1336del (p.Val446SerfsTer?) c.2130del c.5794del (p.Val1932SerfsTer?) c.2983del (p.Val995SerfsTer?) | gnomAD v4 |
14 | g.91272811C>A | CA487828663 | CCDC88C | c.5901G>T (p.Gly1967=) c.1335G>T (p.Gly445=) c.2129G>T c.5793G>T (p.Gly1931=) c.2982G>T (p.Gly994=) | dbSNP |
14 | g.91272811C= | CA2154900493 | CCDC88C | c.5901G= (p.Gly1967=) c.1335G= (p.Gly445=) c.2129G= c.5793G= (p.Gly1931=) c.2982G= (p.Gly994=) | |
14 | g.91272811C>G | CA487828661 | CCDC88C | c.5901G>C (p.Gly1967=) c.1335G>C (p.Gly445=) c.2129G>C c.5793G>C (p.Gly1931=) c.2982G>C (p.Gly994=) | dbSNP |
14 | g.91272811C>T | CA487828662 | CCDC88C | c.5901G>A (p.Gly1967=) c.1335G>A (p.Gly445=) c.2129G>A c.5793G>A (p.Gly1931=) c.2982G>A (p.Gly994=) | gnomAD v4 |
14 | g.91272812C>A | CA390608515 | CCDC88C | c.5900G>T (p.Gly1967Val) c.1334G>T (p.Gly445Val) c.2128G>T c.5792G>T (p.Gly1931Val) c.2981G>T (p.Gly994Val) | |
14 | g.91272812C>G | CA390608517 | CCDC88C | c.5900G>C (p.Gly1967Ala) c.1334G>C (p.Gly445Ala) c.2128G>C c.5792G>C (p.Gly1931Ala) c.2981G>C (p.Gly994Ala) | |
14 | g.91272812C>T | CA390608519 | CCDC88C | c.5900G>A (p.Gly1967Glu) c.1334G>A (p.Gly445Glu) c.2128G>A c.5792G>A (p.Gly1931Glu) c.2981G>A (p.Gly994Glu) | gnomAD v4 |
14 | g.91272813C>A | CA390608522 | CCDC88C | c.5899G>T (p.Gly1967Trp) c.1333G>T (p.Gly445Trp) c.2127G>T c.5791G>T (p.Gly1931Trp) c.2980G>T (p.Gly994Trp) | dbSNP gnomAD v4 |
14 | g.91272813C= | CA2154900498 | CCDC88C | c.5899G= (p.Gly1967=) c.1333G= (p.Gly445=) c.2127G= c.5791G= (p.Gly1931=) c.2980G= (p.Gly994=) | |
14 | g.91272813C>G | CA390608524 | CCDC88C | c.5899G>C (p.Gly1967Arg) c.1333G>C (p.Gly445Arg) c.2127G>C c.5791G>C (p.Gly1931Arg) c.2980G>C (p.Gly994Arg) | gnomAD v4 |
14 | g.91272813C>T | CA7308565 | CCDC88C | c.5899G>A (p.Gly1967Arg) c.1333G>A (p.Gly445Arg) c.2127G>A c.5791G>A (p.Gly1931Arg) c.2980G>A (p.Gly994Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272814del | CA2626127364 | CCDC88C | c.5898del (p.Asp1966GlufsTer?) c.1332del (p.Asp444GlufsTer?) c.2126del c.5790del (p.Asp1930GlufsTer?) c.2979del (p.Asp993GlufsTer?) | gnomAD v4 |
14 | g.91272814G>A | CA7308566 | CCDC88C | c.5898C>T (p.Asp1966=) c.1332C>T (p.Asp444=) c.2126C>T c.5790C>T (p.Asp1930=) c.2979C>T (p.Asp993=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.91272814G>C | CA390608533 | CCDC88C | c.5898C>G (p.Asp1966Glu) c.1332C>G (p.Asp444Glu) c.2126C>G c.5790C>G (p.Asp1930Glu) c.2979C>G (p.Asp993Glu) | |
14 | g.91272814G= | CA2154900504 | CCDC88C | c.5898C= (p.Asp1966=) c.1332C= (p.Asp444=) c.2126C= c.5790C= (p.Asp1930=) c.2979C= (p.Asp993=) | |
14 | g.91272814G>T | CA390608530 | CCDC88C | c.5898C>A (p.Asp1966Glu) c.1332C>A (p.Asp444Glu) c.2126C>A c.5790C>A (p.Asp1930Glu) c.2979C>A (p.Asp993Glu) | gnomAD v4 |
14 | g.91272815T>A | CA390608536 | CCDC88C | c.5897A>T (p.Asp1966Val) c.1331A>T (p.Asp444Val) c.2125A>T c.5789A>T (p.Asp1930Val) c.2978A>T (p.Asp993Val) | |
14 | g.91272815T>C | CA390608538 | CCDC88C | c.5897A>G (p.Asp1966Gly) c.1331A>G (p.Asp444Gly) c.2125A>G c.5789A>G (p.Asp1930Gly) c.2978A>G (p.Asp993Gly) | |
14 | g.91272815T>G | CA390608540 | CCDC88C | c.5897A>C (p.Asp1966Ala) c.1331A>C (p.Asp444Ala) c.2125A>C c.5789A>C (p.Asp1930Ala) c.2978A>C (p.Asp993Ala) | |
14 | g.91272816C>A | CA390608544 | CCDC88C | c.5896G>T (p.Asp1966Tyr) c.1330G>T (p.Asp444Tyr) c.2124G>T c.5788G>T (p.Asp1930Tyr) c.2977G>T (p.Asp993Tyr) | |
14 | g.91272816C>G | CA390608546 | CCDC88C | c.5896G>C (p.Asp1966His) c.1330G>C (p.Asp444His) c.2124G>C c.5788G>C (p.Asp1930His) c.2977G>C (p.Asp993His) | |
14 | g.91272816C>T | CA390608547 | CCDC88C | c.5896G>A (p.Asp1966Asn) c.1330G>A (p.Asp444Asn) c.2124G>A c.5788G>A (p.Asp1930Asn) c.2977G>A (p.Asp993Asn) | gnomAD v4 |
14 | g.91272819_91272822del | CA2626127365 | CCDC88C | c.5893_5896del (p.Gly1965ThrfsTer?) c.1327_1330del (p.Gly443ThrfsTer?) c.2121_2124del c.5785_5788del (p.Gly1929ThrfsTer?) c.2974_2977del (p.Gly992ThrfsTer?) | gnomAD v4 |
14 | g.91272817T>A | CA487828668 | CCDC88C | c.5895A>T (p.Gly1965=) c.1329A>T (p.Gly443=) c.2123A>T c.5787A>T (p.Gly1929=) c.2976A>T (p.Gly992=) | |
14 | g.91272817T>C | CA487828671 | CCDC88C | c.5895A>G (p.Gly1965=) c.1329A>G (p.Gly443=) c.2123A>G c.5787A>G (p.Gly1929=) c.2976A>G (p.Gly992=) | |
14 | g.91272817T>G | CA487828669 | CCDC88C | c.5895A>C (p.Gly1965=) c.1329A>C (p.Gly443=) c.2123A>C c.5787A>C (p.Gly1929=) c.2976A>C (p.Gly992=) | |
14 | g.91272818C>A | CA390608550 | CCDC88C | c.5894G>T (p.Gly1965Val) c.1328G>T (p.Gly443Val) c.2122G>T c.5786G>T (p.Gly1929Val) c.2975G>T (p.Gly992Val) | |
14 | g.91272818C= | CA2154900510 | CCDC88C | c.5894G= (p.Gly1965=) c.1328G= (p.Gly443=) c.2122G= c.5786G= (p.Gly1929=) c.2975G= (p.Gly992=) | |
14 | g.91272818C>G | CA390608552 | CCDC88C | c.5894G>C (p.Gly1965Ala) c.1328G>C (p.Gly443Ala) c.2122G>C c.5786G>C (p.Gly1929Ala) c.2975G>C (p.Gly992Ala) | dbSNP |
14 | g.91272818C>T | CA390608555 | CCDC88C | c.5894G>A (p.Gly1965Glu) c.1328G>A (p.Gly443Glu) c.2122G>A c.5786G>A (p.Gly1929Glu) c.2975G>A (p.Gly992Glu) | ClinVar |
14 | g.91272819C>A | CA390608558 | CCDC88C | c.5893G>T (p.Gly1965Ter) c.1327G>T (p.Gly443Ter) c.2121G>T c.5785G>T (p.Gly1929Ter) c.2974G>T (p.Gly992Ter) | |
14 | g.91272819C= | CA2154900516 | CCDC88C | c.5893G= (p.Gly1965=) c.1327G= (p.Gly443=) c.2121G= c.5785G= (p.Gly1929=) c.2974G= (p.Gly992=) | |
14 | g.91272819C>G | CA390608560 | CCDC88C | c.5893G>C (p.Gly1965Arg) c.1327G>C (p.Gly443Arg) c.2121G>C c.5785G>C (p.Gly1929Arg) c.2974G>C (p.Gly992Arg) | |
14 | g.91272819C>T | CA390608562 | CCDC88C | c.5893G>A (p.Gly1965Arg) c.1327G>A (p.Gly443Arg) c.2121G>A c.5785G>A (p.Gly1929Arg) c.2974G>A (p.Gly992Arg) | dbSNP gnomAD v2 COSMIC COSMIC COSMIC |
14 | g.91272820C>A | CA390608565 | CCDC88C | c.5892G>T (p.Glu1964Asp) c.1326G>T (p.Glu442Asp) c.2120G>T c.5784G>T (p.Glu1928Asp) c.2973G>T (p.Glu991Asp) | gnomAD v4 |
14 | g.91272820C= | CA2154900520 | CCDC88C | c.5892G= (p.Glu1964=) c.1326G= (p.Glu442=) c.2120G= c.5784G= (p.Glu1928=) c.2973G= (p.Glu991=) | |
14 | g.91272820C>G | CA390608567 | CCDC88C | c.5892G>C (p.Glu1964Asp) c.1326G>C (p.Glu442Asp) c.2120G>C c.5784G>C (p.Glu1928Asp) c.2973G>C (p.Glu991Asp) | dbSNP |
14 | g.91272820C>T | CA7308567 | CCDC88C | c.5892G>A (p.Glu1964=) c.1326G>A (p.Glu442=) c.2120G>A c.5784G>A (p.Glu1928=) c.2973G>A (p.Glu991=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272820_91272823del | CA2626127366 | CCDC88C | c.5889_5892del (p.Gly1965ThrfsTer?) c.1323_1326del (p.Gly443ThrfsTer?) c.2117_2120del c.5781_5784del (p.Gly1929ThrfsTer?) c.2970_2973del (p.Gly992ThrfsTer?) | gnomAD v4 |
14 | g.91272821T>A | CA390608570 | CCDC88C | c.5891A>T (p.Glu1964Val) c.1325A>T (p.Glu442Val) c.2119A>T c.5783A>T (p.Glu1928Val) c.2972A>T (p.Glu991Val) | |
14 | g.91272821T>C | CA390608572 | CCDC88C | c.5891A>G (p.Glu1964Gly) c.1325A>G (p.Glu442Gly) c.2119A>G c.5783A>G (p.Glu1928Gly) c.2972A>G (p.Glu991Gly) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272821T>G | CA390608575 | CCDC88C | c.5891A>C (p.Glu1964Ala) c.1325A>C (p.Glu442Ala) c.2119A>C c.5783A>C (p.Glu1928Ala) c.2972A>C (p.Glu991Ala) | |
14 | g.91272821T= | CA2154900525 | CCDC88C | c.5891A= (p.Glu1964=) c.1325A= (p.Glu442=) c.2119A= c.5783A= (p.Glu1928=) c.2972A= (p.Glu991=) | |
14 | g.91272822C>A | CA390608577 | CCDC88C | c.5890G>T (p.Glu1964Ter) c.1324G>T (p.Glu442Ter) c.2118G>T c.5782G>T (p.Glu1928Ter) c.2971G>T (p.Glu991Ter) | gnomAD v4 |
14 | g.91272822C>G | CA390608579 | CCDC88C | c.5890G>C (p.Glu1964Gln) c.1324G>C (p.Glu442Gln) c.2118G>C c.5782G>C (p.Glu1928Gln) c.2971G>C (p.Glu991Gln) | |
14 | g.91272822C>T | CA390608582 | CCDC88C | c.5890G>A (p.Glu1964Lys) c.1324G>A (p.Glu442Lys) c.2118G>A c.5782G>A (p.Glu1928Lys) c.2971G>A (p.Glu991Lys) | |
14 | g.91272823T>A | CA487828679 | CCDC88C | c.5889A>T (p.Ser1963=) c.1323A>T (p.Ser441=) c.2117A>T c.5781A>T (p.Ser1927=) c.2970A>T (p.Ser990=) | |
14 | g.91272823T>C | CA487828681 | CCDC88C | c.5889A>G (p.Ser1963=) c.1323A>G (p.Ser441=) c.2117A>G c.5781A>G (p.Ser1927=) c.2970A>G (p.Ser990=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272823T>G | CA487828680 | CCDC88C | c.5889A>C (p.Ser1963=) c.1323A>C (p.Ser441=) c.2117A>C c.5781A>C (p.Ser1927=) c.2970A>C (p.Ser990=) | |
14 | g.91272823T= | CA2154900543 | CCDC88C | c.5889A= (p.Ser1963=) c.1323A= (p.Ser441=) c.2117A= c.5781A= (p.Ser1927=) c.2970A= (p.Ser990=) | |
14 | g.91272824G>A | CA390608589 | CCDC88C | c.5888C>T (p.Ser1963Leu) c.1322C>T (p.Ser441Leu) c.2116C>T c.5780C>T (p.Ser1927Leu) c.2969C>T (p.Ser990Leu) | dbSNP COSMIC COSMIC COSMIC |
14 | g.91272824G>C | CA390608586 | CCDC88C | c.5888C>G (p.Ser1963Ter) c.1322C>G (p.Ser441Ter) c.2116C>G c.5780C>G (p.Ser1927Ter) c.2969C>G (p.Ser990Ter) | |
14 | g.91272824G= | CA2154900552 | CCDC88C | c.5888C= (p.Ser1963=) c.1322C= (p.Ser441=) c.2116C= c.5780C= (p.Ser1927=) c.2969C= (p.Ser990=) | |
14 | g.91272824G>T | CA390608588 | CCDC88C | c.5888C>A (p.Ser1963Ter) c.1322C>A (p.Ser441Ter) c.2116C>A c.5780C>A (p.Ser1927Ter) c.2969C>A (p.Ser990Ter) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91272825A>C | CA390608592 | CCDC88C | c.5887T>G (p.Ser1963Ala) c.1321T>G (p.Ser441Ala) c.2115T>G c.5779T>G (p.Ser1927Ala) c.2968T>G (p.Ser990Ala) | |
14 | g.91272825A>G | CA390608594 | CCDC88C | c.5887T>C (p.Ser1963Pro) c.1321T>C (p.Ser441Pro) c.2115T>C c.5779T>C (p.Ser1927Pro) c.2968T>C (p.Ser990Pro) | gnomAD v4 |
14 | g.91272825A>T | CA390608598 | CCDC88C | c.5887T>A (p.Ser1963Thr) c.1321T>A (p.Ser441Thr) c.2115T>A c.5779T>A (p.Ser1927Thr) c.2968T>A (p.Ser990Thr) | |
14 | g.91272826G>A | CA487828683 | CCDC88C | c.5886C>T (p.Leu1962=) c.1320C>T (p.Leu440=) c.2114C>T c.5778C>T (p.Leu1926=) c.2967C>T (p.Leu989=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272826G>C | CA487828684 | CCDC88C | c.5886C>G (p.Leu1962=) c.1320C>G (p.Leu440=) c.2114C>G c.5778C>G (p.Leu1926=) c.2967C>G (p.Leu989=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.91272826G= | CA2154900559 | CCDC88C | c.5886C= (p.Leu1962=) c.1320C= (p.Leu440=) c.2114C= c.5778C= (p.Leu1926=) c.2967C= (p.Leu989=) | |
14 | g.91272826G>T | CA487828686 | CCDC88C | c.5886C>A (p.Leu1962=) c.1320C>A (p.Leu440=) c.2114C>A c.5778C>A (p.Leu1926=) c.2967C>A (p.Leu989=) | gnomAD v4 |
14 | g.91272827A>C | CA390608601 | CCDC88C | c.5885T>G (p.Leu1962Arg) c.1319T>G (p.Leu440Arg) c.2113T>G c.5777T>G (p.Leu1926Arg) c.2966T>G (p.Leu989Arg) | |
14 | g.91272827A>G | CA390608602 | CCDC88C | c.5885T>C (p.Leu1962Pro) c.1319T>C (p.Leu440Pro) c.2113T>C c.5777T>C (p.Leu1926Pro) c.2966T>C (p.Leu989Pro) | |
14 | g.91272827A>T | CA390608605 | CCDC88C | c.5885T>A (p.Leu1962His) c.1319T>A (p.Leu440His) c.2113T>A c.5777T>A (p.Leu1926His) c.2966T>A (p.Leu989His) | gnomAD v4 |
14 | g.91272828G>A | CA265517376 | CCDC88C | c.5884C>T (p.Leu1962Phe) c.1318C>T (p.Leu440Phe) c.2112C>T c.5776C>T (p.Leu1926Phe) c.2965C>T (p.Leu989Phe) | dbSNP gnomAD v4 |
14 | g.91272828G>C | CA390608611 | CCDC88C | c.5884C>G (p.Leu1962Val) c.1318C>G (p.Leu440Val) c.2112C>G c.5776C>G (p.Leu1926Val) c.2965C>G (p.Leu989Val) | |
14 | g.91272828G= | CA2154900567 | CCDC88C | c.5884C= (p.Leu1962=) c.1318C= (p.Leu440=) c.2112C= c.5776C= (p.Leu1926=) c.2965C= (p.Leu989=) | |
14 | g.91272828G>T | CA7308568 | CCDC88C | c.5884C>A (p.Leu1962Ile) c.1318C>A (p.Leu440Ile) c.2112C>A c.5776C>A (p.Leu1926Ile) c.2965C>A (p.Leu989Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272829G>A | CA487828689 | CCDC88C | c.5883C>T (p.Ser1961=) c.1317C>T (p.Ser439=) c.2111C>T c.5775C>T (p.Ser1925=) c.2964C>T (p.Ser988=) | gnomAD v4 |
14 | g.91272829G>C | CA390608614 | CCDC88C | c.5883C>G (p.Ser1961Arg) c.1317C>G (p.Ser439Arg) c.2111C>G c.5775C>G (p.Ser1925Arg) c.2964C>G (p.Ser988Arg) | |
14 | g.91272829G>T | CA390608616 | CCDC88C | c.5883C>A (p.Ser1961Arg) c.1317C>A (p.Ser439Arg) c.2111C>A c.5775C>A (p.Ser1925Arg) c.2964C>A (p.Ser988Arg) | ClinVar gnomAD v4 |
14 | g.91272830C>A | CA390608620 | CCDC88C | c.5882G>T (p.Ser1961Ile) c.1316G>T (p.Ser439Ile) c.2110G>T c.5774G>T (p.Ser1925Ile) c.2963G>T (p.Ser988Ile) | gnomAD v4 |
14 | g.91272830C>G | CA390608622 | CCDC88C | c.5882G>C (p.Ser1961Thr) c.1316G>C (p.Ser439Thr) c.2110G>C c.5774G>C (p.Ser1925Thr) c.2963G>C (p.Ser988Thr) | |
14 | g.91272830C>T | CA390608624 | CCDC88C | c.5882G>A (p.Ser1961Asn) c.1316G>A (p.Ser439Asn) c.2110G>A c.5774G>A (p.Ser1925Asn) c.2963G>A (p.Ser988Asn) | gnomAD v4 |
14 | g.91272831T>A | CA390608626 | CCDC88C | c.5881A>T (p.Ser1961Cys) c.1315A>T (p.Ser439Cys) c.2109A>T c.5773A>T (p.Ser1925Cys) c.2962A>T (p.Ser988Cys) | |
14 | g.91272831T>C | CA390608628 | CCDC88C | c.5881A>G (p.Ser1961Gly) c.1315A>G (p.Ser439Gly) c.2109A>G c.5773A>G (p.Ser1925Gly) c.2962A>G (p.Ser988Gly) | gnomAD v4 |
14 | g.91272831T>G | CA390608630 | CCDC88C | c.5881A>C (p.Ser1961Arg) c.1315A>C (p.Ser439Arg) c.2109A>C c.5773A>C (p.Ser1925Arg) c.2962A>C (p.Ser988Arg) | |
14 | g.91272832G>A | CA487828697 | CCDC88C | c.5880C>T (p.Leu1960=) c.1314C>T (p.Leu438=) c.2108C>T c.5772C>T (p.Leu1924=) c.2961C>T (p.Leu987=) | gnomAD v4 |
14 | g.91272832G>C | CA487828694 | CCDC88C | c.5880C>G (p.Leu1960=) c.1314C>G (p.Leu438=) c.2108C>G c.5772C>G (p.Leu1924=) c.2961C>G (p.Leu987=) | |
14 | g.91272832G>T | CA487828695 | CCDC88C | c.5880C>A (p.Leu1960=) c.1314C>A (p.Leu438=) c.2108C>A c.5772C>A (p.Leu1924=) c.2961C>A (p.Leu987=) | gnomAD v4 |
14 | g.91272833A>C | CA390608632 | CCDC88C | c.5879T>G (p.Leu1960Arg) c.1313T>G (p.Leu438Arg) c.2107T>G c.5771T>G (p.Leu1924Arg) c.2960T>G (p.Leu987Arg) | |
14 | g.91272833A>G | CA390608633 | CCDC88C | c.5879T>C (p.Leu1960Pro) c.1313T>C (p.Leu438Pro) c.2107T>C c.5771T>C (p.Leu1924Pro) c.2960T>C (p.Leu987Pro) | |
14 | g.91272833A>T | CA390608636 | CCDC88C | c.5879T>A (p.Leu1960His) c.1313T>A (p.Leu438His) c.2107T>A c.5771T>A (p.Leu1924His) c.2960T>A (p.Leu987His) | |
14 | g.91272834G>A | CA390608640 | CCDC88C | c.5878C>T (p.Leu1960Phe) c.1312C>T (p.Leu438Phe) c.2106C>T c.5770C>T (p.Leu1924Phe) c.2959C>T (p.Leu987Phe) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272834G>C | CA390608642 | CCDC88C | c.5878C>G (p.Leu1960Val) c.1312C>G (p.Leu438Val) c.2106C>G c.5770C>G (p.Leu1924Val) c.2959C>G (p.Leu987Val) | |
14 | g.91272834G= | CA2154900570 | CCDC88C | c.5878C= (p.Leu1960=) c.1312C= (p.Leu438=) c.2106C= c.5770C= (p.Leu1924=) c.2959C= (p.Leu987=) | |
14 | g.91272834G>T | CA390608644 | CCDC88C | c.5878C>A (p.Leu1960Ile) c.1312C>A (p.Leu438Ile) c.2106C>A c.5770C>A (p.Leu1924Ile) c.2959C>A (p.Leu987Ile) | gnomAD v4 |
14 | g.91272835C>A | CA487828698 | CCDC88C | c.5877G>T (p.Gly1959=) c.1311G>T (p.Gly437=) c.2105G>T c.5769G>T (p.Gly1923=) c.2958G>T (p.Gly986=) | gnomAD v4 |
14 | g.91272835C= | CA2154900573 | CCDC88C | c.5877G= (p.Gly1959=) c.1311G= (p.Gly437=) c.2105G= c.5769G= (p.Gly1923=) c.2958G= (p.Gly986=) | |
14 | g.91272835C>G | CA487828700 | CCDC88C | c.5877G>C (p.Gly1959=) c.1311G>C (p.Gly437=) c.2105G>C c.5769G>C (p.Gly1923=) c.2958G>C (p.Gly986=) | |
14 | g.91272835C>T | CA487828703 | CCDC88C | c.5877G>A (p.Gly1959=) c.1311G>A (p.Gly437=) c.2105G>A c.5769G>A (p.Gly1923=) c.2958G>A (p.Gly986=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272836C>A | CA390608651 | CCDC88C | c.5876G>T (p.Gly1959Val) c.1310G>T (p.Gly437Val) c.2104G>T c.5768G>T (p.Gly1923Val) c.2957G>T (p.Gly986Val) | |
14 | g.91272836C>G | CA390608649 | CCDC88C | c.5876G>C (p.Gly1959Ala) c.1310G>C (p.Gly437Ala) c.2104G>C c.5768G>C (p.Gly1923Ala) c.2957G>C (p.Gly986Ala) | |
14 | g.91272836C>T | CA390608647 | CCDC88C | c.5876G>A (p.Gly1959Glu) c.1310G>A (p.Gly437Glu) c.2104G>A c.5768G>A (p.Gly1923Glu) c.2957G>A (p.Gly986Glu) | |
14 | g.91272837C>A | CA390608653 | CCDC88C | c.5875G>T (p.Gly1959Trp) c.1309G>T (p.Gly437Trp) c.2103G>T c.5767G>T (p.Gly1923Trp) c.2956G>T (p.Gly986Trp) | gnomAD v4 |
14 | g.91272837C>G | CA390608655 | CCDC88C | c.5875G>C (p.Gly1959Arg) c.1309G>C (p.Gly437Arg) c.2103G>C c.5767G>C (p.Gly1923Arg) c.2956G>C (p.Gly986Arg) | |
14 | g.91272837C>T | CA390608658 | CCDC88C | c.5875G>A (p.Gly1959Arg) c.1309G>A (p.Gly437Arg) c.2103G>A c.5767G>A (p.Gly1923Arg) c.2956G>A (p.Gly986Arg) | gnomAD v4 |
14 | g.91272838T>A | CA487828705 | CCDC88C | c.5874A>T (p.Ala1958=) c.1308A>T (p.Ala436=) c.2102A>T c.5766A>T (p.Ala1922=) c.2955A>T (p.Ala985=) | gnomAD v4 |
14 | g.91272838T>C | CA487828706 | CCDC88C | c.5874A>G (p.Ala1958=) c.1308A>G (p.Ala436=) c.2102A>G c.5766A>G (p.Ala1922=) c.2955A>G (p.Ala985=) | gnomAD v4 |
14 | g.91272838T>G | CA487828707 | CCDC88C | c.5874A>C (p.Ala1958=) c.1308A>C (p.Ala436=) c.2102A>C c.5766A>C (p.Ala1922=) c.2955A>C (p.Ala985=) | |
14 | g.91272839G>A | CA390608661 | CCDC88C | c.5873C>T (p.Ala1958Val) c.1307C>T (p.Ala436Val) c.2101C>T c.5765C>T (p.Ala1922Val) c.2954C>T (p.Ala985Val) | gnomAD v4 |
14 | g.91272839G>C | CA390608663 | CCDC88C | c.5873C>G (p.Ala1958Gly) c.1307C>G (p.Ala436Gly) c.2101C>G c.5765C>G (p.Ala1922Gly) c.2954C>G (p.Ala985Gly) | |
14 | g.91272839G= | CA2154900577 | CCDC88C | c.5873C= (p.Ala1958=) c.1307C= (p.Ala436=) c.2101C= c.5765C= (p.Ala1922=) c.2954C= (p.Ala985=) | |
14 | g.91272839G>T | CA390608665 | CCDC88C | c.5873C>A (p.Ala1958Glu) c.1307C>A (p.Ala436Glu) c.2101C>A c.5765C>A (p.Ala1922Glu) c.2954C>A (p.Ala985Glu) | dbSNP gnomAD v4 |
14 | g.91272840C>A | CA390608669 | CCDC88C | c.5872G>T (p.Ala1958Ser) c.1306G>T (p.Ala436Ser) c.2100G>T c.5764G>T (p.Ala1922Ser) c.2953G>T (p.Ala985Ser) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91272840C= | CA2154900583 | CCDC88C | c.5872G= (p.Ala1958=) c.1306G= (p.Ala436=) c.2100G= c.5764G= (p.Ala1922=) c.2953G= (p.Ala985=) | |
14 | g.91272840C>G | CA390608671 | CCDC88C | c.5872G>C (p.Ala1958Pro) c.1306G>C (p.Ala436Pro) c.2100G>C c.5764G>C (p.Ala1922Pro) c.2953G>C (p.Ala985Pro) | |
14 | g.91272840C>T | CA390608674 | CCDC88C | c.5872G>A (p.Ala1958Thr) c.1306G>A (p.Ala436Thr) c.2100G>A c.5764G>A (p.Ala1922Thr) c.2953G>A (p.Ala985Thr) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91272841C>A | CA487828712 | CCDC88C | c.5871G>T (p.Arg1957=) c.1305G>T (p.Arg435=) c.2099G>T c.5763G>T (p.Arg1921=) c.2952G>T (p.Arg984=) | gnomAD v4 |
14 | g.91272841C>G | CA487828713 | CCDC88C | c.5871G>C (p.Arg1957=) c.1305G>C (p.Arg435=) c.2099G>C c.5763G>C (p.Arg1921=) c.2952G>C (p.Arg984=) | |
14 | g.91272841C>T | CA487828714 | CCDC88C | c.5871G>A (p.Arg1957=) c.1305G>A (p.Arg435=) c.2099G>A c.5763G>A (p.Arg1921=) c.2952G>A (p.Arg984=) | |
14 | g.91272842C>A | CA390608676 | CCDC88C | c.5870G>T (p.Arg1957Leu) c.1304G>T (p.Arg435Leu) c.2098G>T c.5762G>T (p.Arg1921Leu) c.2951G>T (p.Arg984Leu) | gnomAD v4 |
14 | g.91272842C= | CA2154900589 | CCDC88C | c.5870G= (p.Arg1957=) c.1304G= (p.Arg435=) c.2098G= c.5762G= (p.Arg1921=) c.2951G= (p.Arg984=) | |
14 | g.91272842C>G | CA390608678 | CCDC88C | c.5870G>C (p.Arg1957Pro) c.1304G>C (p.Arg435Pro) c.2098G>C c.5762G>C (p.Arg1921Pro) c.2951G>C (p.Arg984Pro) | gnomAD v4 |
14 | g.91272842C>T | CA7308569 | CCDC88C | c.5870G>A (p.Arg1957Gln) c.1304G>A (p.Arg435Gln) c.2098G>A c.5762G>A (p.Arg1921Gln) c.2951G>A (p.Arg984Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272843G>A | CA7308570 | CCDC88C | c.5869C>T (p.Arg1957Trp) c.1303C>T (p.Arg435Trp) c.2097C>T c.5761C>T (p.Arg1921Trp) c.2950C>T (p.Arg984Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272843G>C | CA390608684 | CCDC88C | c.5869C>G (p.Arg1957Gly) c.1303C>G (p.Arg435Gly) c.2097C>G c.5761C>G (p.Arg1921Gly) c.2950C>G (p.Arg984Gly) | dbSNP |
14 | g.91272843G= | CA2154900591 | CCDC88C | c.5869C= (p.Arg1957=) c.1303C= (p.Arg435=) c.2097C= c.5761C= (p.Arg1921=) c.2950C= (p.Arg984=) | |
14 | g.91272843G>T | CA487828715 | CCDC88C | c.5869C>A (p.Arg1957=) c.1303C>A (p.Arg435=) c.2097C>A c.5761C>A (p.Arg1921=) c.2950C>A (p.Arg984=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272844G>A | CA487828717 | CCDC88C | c.5868C>T (p.Val1956=) c.1302C>T (p.Val434=) c.2096C>T c.5760C>T (p.Val1920=) c.2949C>T (p.Val983=) | |
14 | g.91272844G>C | CA487828718 | CCDC88C | c.5868C>G (p.Val1956=) c.1302C>G (p.Val434=) c.2096C>G c.5760C>G (p.Val1920=) c.2949C>G (p.Val983=) | |
14 | g.91272844G>T | CA487828720 | CCDC88C | c.5868C>A (p.Val1956=) c.1302C>A (p.Val434=) c.2096C>A c.5760C>A (p.Val1920=) c.2949C>A (p.Val983=) | gnomAD v4 |
14 | g.91272845A= | CA2154900593 | CCDC88C | c.5867T= (p.Val1956=) c.1301T= (p.Val434=) c.2095T= c.5759T= (p.Val1920=) c.2948T= (p.Val983=) | |
14 | g.91272845A>C | CA390608689 | CCDC88C | c.5867T>G (p.Val1956Gly) c.1301T>G (p.Val434Gly) c.2095T>G c.5759T>G (p.Val1920Gly) c.2948T>G (p.Val983Gly) | |
14 | g.91272845A>G | CA390608691 | CCDC88C | c.5867T>C (p.Val1956Ala) c.1301T>C (p.Val434Ala) c.2095T>C c.5759T>C (p.Val1920Ala) c.2948T>C (p.Val983Ala) | |
14 | g.91272845A>T | CA390608688 | CCDC88C | c.5867T>A (p.Val1956Asp) c.1301T>A (p.Val434Asp) c.2095T>A c.5759T>A (p.Val1920Asp) c.2948T>A (p.Val983Asp) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272846C>A | CA390608694 | CCDC88C | c.5866G>T (p.Val1956Phe) c.1300G>T (p.Val434Phe) c.2094G>T c.5758G>T (p.Val1920Phe) c.2947G>T (p.Val983Phe) | gnomAD v4 |
14 | g.91272846C>G | CA390608696 | CCDC88C | c.5866G>C (p.Val1956Leu) c.1300G>C (p.Val434Leu) c.2094G>C c.5758G>C (p.Val1920Leu) c.2947G>C (p.Val983Leu) | |
14 | g.91272846C>T | CA390608698 | CCDC88C | c.5866G>A (p.Val1956Ile) c.1300G>A (p.Val434Ile) c.2094G>A c.5758G>A (p.Val1920Ile) c.2947G>A (p.Val983Ile) | gnomAD v4 |
14 | g.91272847A>C | CA487828724 | CCDC88C | c.5865T>G (p.Pro1955=) c.1299T>G (p.Pro433=) c.2093T>G c.5757T>G (p.Pro1919=) c.2946T>G (p.Pro982=) | |
14 | g.91272847A>G | CA487828726 | CCDC88C | c.5865T>C (p.Pro1955=) c.1299T>C (p.Pro433=) c.2093T>C c.5757T>C (p.Pro1919=) c.2946T>C (p.Pro982=) | gnomAD v4 |
14 | g.91272847A>T | CA487828727 | CCDC88C | c.5865T>A (p.Pro1955=) c.1299T>A (p.Pro433=) c.2093T>A c.5757T>A (p.Pro1919=) c.2946T>A (p.Pro982=) | gnomAD v4 |
14 | g.91272848G>A | CA390608701 | CCDC88C | c.5864C>T (p.Pro1955Leu) c.1298C>T (p.Pro433Leu) c.2092C>T c.5756C>T (p.Pro1919Leu) c.2945C>T (p.Pro982Leu) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272848G>C | CA390608703 | CCDC88C | c.5864C>G (p.Pro1955Arg) c.1298C>G (p.Pro433Arg) c.2092C>G c.5756C>G (p.Pro1919Arg) c.2945C>G (p.Pro982Arg) | |
14 | g.91272848G= | CA2154900595 | CCDC88C | c.5864C= (p.Pro1955=) c.1298C= (p.Pro433=) c.2092C= c.5756C= (p.Pro1919=) c.2945C= (p.Pro982=) | |
14 | g.91272848G>T | CA390608706 | CCDC88C | c.5864C>A (p.Pro1955His) c.1298C>A (p.Pro433His) c.2092C>A c.5756C>A (p.Pro1919His) c.2945C>A (p.Pro982His) | gnomAD v4 |
14 | g.91272851del | CA2626127414 | CCDC88C | c.5864del (p.Pro1955LeufsTer?) c.1298del (p.Pro433LeufsTer?) c.2092del c.5756del (p.Pro1919LeufsTer?) c.2945del (p.Pro982LeufsTer?) | gnomAD v4 |
14 | g.91272849G>A | CA390608709 | CCDC88C | c.5863C>T (p.Pro1955Ser) c.1297C>T (p.Pro433Ser) c.2091C>T c.5755C>T (p.Pro1919Ser) c.2944C>T (p.Pro982Ser) | gnomAD v4 |
14 | g.91272849G>C | CA265517398 | CCDC88C | c.5863C>G (p.Pro1955Ala) c.1297C>G (p.Pro433Ala) c.2091C>G c.5755C>G (p.Pro1919Ala) c.2944C>G (p.Pro982Ala) | dbSNP gnomAD v4 |
14 | g.91272849G= | CA2154900600 | CCDC88C | c.5863C= (p.Pro1955=) c.1297C= (p.Pro433=) c.2091C= c.5755C= (p.Pro1919=) c.2944C= (p.Pro982=) | |
14 | g.91272849G>T | CA390608713 | CCDC88C | c.5863C>A (p.Pro1955Thr) c.1297C>A (p.Pro433Thr) c.2091C>A c.5755C>A (p.Pro1919Thr) c.2944C>A (p.Pro982Thr) | gnomAD v4 |
14 | g.91272850G>A | CA487828732 | CCDC88C | c.5862C>T (p.Thr1954=) c.1296C>T (p.Thr432=) c.2090C>T c.5754C>T (p.Thr1918=) c.2943C>T (p.Thr981=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272850G>C | CA487828733 | CCDC88C | c.5862C>G (p.Thr1954=) c.1296C>G (p.Thr432=) c.2090C>G c.5754C>G (p.Thr1918=) c.2943C>G (p.Thr981=) | |
14 | g.91272850G= | CA2154900603 | CCDC88C | c.5862C= (p.Thr1954=) c.1296C= (p.Thr432=) c.2090C= c.5754C= (p.Thr1918=) c.2943C= (p.Thr981=) | |
14 | g.91272850G>T | CA487828734 | CCDC88C | c.5862C>A (p.Thr1954=) c.1296C>A (p.Thr432=) c.2090C>A c.5754C>A (p.Thr1918=) c.2943C>A (p.Thr981=) | gnomAD v4 |
14 | g.91272851G>A | CA390608716 | CCDC88C | c.5861C>T (p.Thr1954Ile) c.1295C>T (p.Thr432Ile) c.2089C>T c.5753C>T (p.Thr1918Ile) c.2942C>T (p.Thr981Ile) | gnomAD v4 |
14 | g.91272851G>C | CA390608718 | CCDC88C | c.5861C>G (p.Thr1954Ser) c.1295C>G (p.Thr432Ser) c.2089C>G c.5753C>G (p.Thr1918Ser) c.2942C>G (p.Thr981Ser) | |
14 | g.91272851G= | CA2154900604 | CCDC88C | c.5861C= (p.Thr1954=) c.1295C= (p.Thr432=) c.2089C= c.5753C= (p.Thr1918=) c.2942C= (p.Thr981=) | |
14 | g.91272851G>T | CA7308571 | CCDC88C | c.5861C>A (p.Thr1954Asn) c.1295C>A (p.Thr432Asn) c.2089C>A c.5753C>A (p.Thr1918Asn) c.2942C>A (p.Thr981Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272852T>A | CA390608725 | CCDC88C | c.5860A>T (p.Thr1954Ser) c.1294A>T (p.Thr432Ser) c.2088A>T c.5752A>T (p.Thr1918Ser) c.2941A>T (p.Thr981Ser) | |
14 | g.91272852T>C | CA390608728 | CCDC88C | c.5860A>G (p.Thr1954Ala) c.1294A>G (p.Thr432Ala) c.2088A>G c.5752A>G (p.Thr1918Ala) c.2941A>G (p.Thr981Ala) | gnomAD v4 |
14 | g.91272852T>G | CA390608723 | CCDC88C | c.5860A>C (p.Thr1954Pro) c.1294A>C (p.Thr432Pro) c.2088A>C c.5752A>C (p.Thr1918Pro) c.2941A>C (p.Thr981Pro) | |
14 | g.91272853G>A | CA487828742 | CCDC88C | c.5859C>T (p.Ile1953=) c.1293C>T (p.Ile431=) c.2087C>T c.5751C>T (p.Ile1917=) c.2940C>T (p.Ile980=) | |
14 | g.91272853G>C | CA390608730 | CCDC88C | c.5859C>G (p.Ile1953Met) c.1293C>G (p.Ile431Met) c.2087C>G c.5751C>G (p.Ile1917Met) c.2940C>G (p.Ile980Met) | |
14 | g.91272853G>T | CA487828739 | CCDC88C | c.5859C>A (p.Ile1953=) c.1293C>A (p.Ile431=) c.2087C>A c.5751C>A (p.Ile1917=) c.2940C>A (p.Ile980=) | gnomAD v4 |
14 | g.91272854A>C | CA390608733 | CCDC88C | c.5858T>G (p.Ile1953Ser) c.1292T>G (p.Ile431Ser) c.2086T>G c.5750T>G (p.Ile1917Ser) c.2939T>G (p.Ile980Ser) | |
14 | g.91272854A>G | CA390608735 | CCDC88C | c.5858T>C (p.Ile1953Thr) c.1292T>C (p.Ile431Thr) c.2086T>C c.5750T>C (p.Ile1917Thr) c.2939T>C (p.Ile980Thr) | gnomAD v4 |
14 | g.91272854A>T | CA390608738 | CCDC88C | c.5858T>A (p.Ile1953Asn) c.1292T>A (p.Ile431Asn) c.2086T>A c.5750T>A (p.Ile1917Asn) c.2939T>A (p.Ile980Asn) | |
14 | g.91272855T>A | CA390608746 | CCDC88C | c.5857A>T (p.Ile1953Phe) c.1291A>T (p.Ile431Phe) c.2085A>T c.5749A>T (p.Ile1917Phe) c.2938A>T (p.Ile980Phe) | |
14 | g.91272855T>C | CA390608744 | CCDC88C | c.5857A>G (p.Ile1953Val) c.1291A>G (p.Ile431Val) c.2085A>G c.5749A>G (p.Ile1917Val) c.2938A>G (p.Ile980Val) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272855T>G | CA390608742 | CCDC88C | c.5857A>C (p.Ile1953Leu) c.1291A>C (p.Ile431Leu) c.2085A>C c.5749A>C (p.Ile1917Leu) c.2938A>C (p.Ile980Leu) | |
14 | g.91272855T= | CA2154900607 | CCDC88C | c.5857A= (p.Ile1953=) c.1291A= (p.Ile431=) c.2085A= c.5749A= (p.Ile1917=) c.2938A= (p.Ile980=) | |
14 | g.91272856G>A | CA487828747 | CCDC88C | c.5856C>T (p.Thr1952=) c.1290C>T (p.Thr430=) c.2084C>T c.5748C>T (p.Thr1916=) c.2937C>T (p.Thr979=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91272856G>C | CA487828748 | CCDC88C | c.5856C>G (p.Thr1952=) c.1290C>G (p.Thr430=) c.2084C>G c.5748C>G (p.Thr1916=) c.2937C>G (p.Thr979=) | |
14 | g.91272856G= | CA2154900613 | CCDC88C | c.5856C= (p.Thr1952=) c.1290C= (p.Thr430=) c.2084C= c.5748C= (p.Thr1916=) c.2937C= (p.Thr979=) | |
14 | g.91272856G>T | CA487828749 | CCDC88C | c.5856C>A (p.Thr1952=) c.1290C>A (p.Thr430=) c.2084C>A c.5748C>A (p.Thr1916=) c.2937C>A (p.Thr979=) | gnomAD v4 |
14 | g.91272857G>A | CA390608749 | CCDC88C | c.5855C>T (p.Thr1952Ile) c.1289C>T (p.Thr430Ile) c.2083C>T c.5747C>T (p.Thr1916Ile) c.2936C>T (p.Thr979Ile) | gnomAD v4 |
14 | g.91272857G>C | CA390608750 | CCDC88C | c.5855C>G (p.Thr1952Ser) c.1289C>G (p.Thr430Ser) c.2083C>G c.5747C>G (p.Thr1916Ser) c.2936C>G (p.Thr979Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.91272857G= | CA2154900615 | CCDC88C | c.5855C= (p.Thr1952=) c.1289C= (p.Thr430=) c.2083C= c.5747C= (p.Thr1916=) c.2936C= (p.Thr979=) | |
14 | g.91272857G>T | CA390608751 | CCDC88C | c.5855C>A (p.Thr1952Asn) c.1289C>A (p.Thr430Asn) c.2083C>A c.5747C>A (p.Thr1916Asn) c.2936C>A (p.Thr979Asn) | |
14 | g.91272858T>A | CA390608755 | CCDC88C | c.5854A>T (p.Thr1952Ser) c.1288A>T (p.Thr430Ser) c.2082A>T c.5746A>T (p.Thr1916Ser) c.2935A>T (p.Thr979Ser) | |
14 | g.91272858T>C | CA390608757 | CCDC88C | c.5854A>G (p.Thr1952Ala) c.1288A>G (p.Thr430Ala) c.2082A>G c.5746A>G (p.Thr1916Ala) c.2935A>G (p.Thr979Ala) | |
14 | g.91272858T>G | CA390608759 | CCDC88C | c.5854A>C (p.Thr1952Pro) c.1288A>C (p.Thr430Pro) c.2082A>C c.5746A>C (p.Thr1916Pro) c.2935A>C (p.Thr979Pro) | |
14 | g.91272859G>A | CA487828590 | CCDC88C | c.5853C>T (p.Ala1951=) c.1287C>T (p.Ala429=) c.2081C>T c.5745C>T (p.Ala1915=) c.2934C>T (p.Ala978=) | gnomAD v4 |
14 | g.91272859G>C | CA487828588 | CCDC88C | c.5853C>G (p.Ala1951=) c.1287C>G (p.Ala429=) c.2081C>G c.5745C>G (p.Ala1915=) c.2934C>G (p.Ala978=) | |
14 | g.91272859G>T | CA487828589 | CCDC88C | c.5853C>A (p.Ala1951=) c.1287C>A (p.Ala429=) c.2081C>A c.5745C>A (p.Ala1915=) c.2934C>A (p.Ala978=) | gnomAD v4 |
14 | g.91272860G>A | CA390608763 | CCDC88C | c.5852C>T (p.Ala1951Val) c.1286C>T (p.Ala429Val) c.2080C>T c.5744C>T (p.Ala1915Val) c.2933C>T (p.Ala978Val) | gnomAD v4 |
14 | g.91272860G>C | CA390608766 | CCDC88C | c.5852C>G (p.Ala1951Gly) c.1286C>G (p.Ala429Gly) c.2080C>G c.5744C>G (p.Ala1915Gly) c.2933C>G (p.Ala978Gly) | |
14 | g.91272860G>T | CA390608764 | CCDC88C | c.5852C>A (p.Ala1951Asp) c.1286C>A (p.Ala429Asp) c.2080C>A c.5744C>A (p.Ala1915Asp) c.2933C>A (p.Ala978Asp) | gnomAD v4 |
14 | g.91272861C>A | CA390608769 | CCDC88C | c.5851G>T (p.Ala1951Ser) c.1285G>T (p.Ala429Ser) c.2079G>T c.5743G>T (p.Ala1915Ser) c.2932G>T (p.Ala978Ser) | gnomAD v4 |
14 | g.91272861C>G | CA390608773 | CCDC88C | c.5851G>C (p.Ala1951Pro) c.1285G>C (p.Ala429Pro) c.2079G>C c.5743G>C (p.Ala1915Pro) c.2932G>C (p.Ala978Pro) | |
14 | g.91272861C>T | CA390608771 | CCDC88C | c.5851G>A (p.Ala1951Thr) c.1285G>A (p.Ala429Thr) c.2079G>A c.5743G>A (p.Ala1915Thr) c.2932G>A (p.Ala978Thr) | gnomAD v4 |
14 | g.91272862C>A | CA487828597 | CCDC88C | c.5850G>T (p.Val1950=) c.1284G>T (p.Val428=) c.2078G>T c.5742G>T (p.Val1914=) c.2931G>T (p.Val977=) | |
14 | g.91272862C>G | CA487828598 | CCDC88C | c.5850G>C (p.Val1950=) c.1284G>C (p.Val428=) c.2078G>C c.5742G>C (p.Val1914=) c.2931G>C (p.Val977=) | |
14 | g.91272862C>T | CA487828599 | CCDC88C | c.5850G>A (p.Val1950=) c.1284G>A (p.Val428=) c.2078G>A c.5742G>A (p.Val1914=) c.2931G>A (p.Val977=) | gnomAD v4 |
14 | g.91272863A>C | CA390608776 | CCDC88C | c.5849T>G (p.Val1950Gly) c.1283T>G (p.Val428Gly) c.2077T>G c.5741T>G (p.Val1914Gly) c.2930T>G (p.Val977Gly) | |
14 | g.91272863A>G | CA390608778 | CCDC88C | c.5849T>C (p.Val1950Ala) c.1283T>C (p.Val428Ala) c.2077T>C c.5741T>C (p.Val1914Ala) c.2930T>C (p.Val977Ala) | |
14 | g.91272863A>T | CA390608780 | CCDC88C | c.5849T>A (p.Val1950Glu) c.1283T>A (p.Val428Glu) c.2077T>A c.5741T>A (p.Val1914Glu) c.2930T>A (p.Val977Glu) | |
14 | g.91272864C>A | CA390608783 | CCDC88C | c.5848G>T (p.Val1950Leu) c.1282G>T (p.Val428Leu) c.2076G>T c.5740G>T (p.Val1914Leu) c.2929G>T (p.Val977Leu) | gnomAD v4 |
14 | g.91272864C= | CA2154900618 | CCDC88C | c.5848G= (p.Val1950=) c.1282G= (p.Val428=) c.2076G= c.5740G= (p.Val1914=) c.2929G= (p.Val977=) | |
14 | g.91272864C>G | CA390608785 | CCDC88C | c.5848G>C (p.Val1950Leu) c.1282G>C (p.Val428Leu) c.2076G>C c.5740G>C (p.Val1914Leu) c.2929G>C (p.Val977Leu) | |
14 | g.91272864C>T | CA390608786 | CCDC88C | c.5848G>A (p.Val1950Met) c.1282G>A (p.Val428Met) c.2076G>A c.5740G>A (p.Val1914Met) c.2929G>A (p.Val977Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272865C>A | CA390608788 | CCDC88C | c.5847G>T (p.Glu1949Asp) c.1281G>T (p.Glu427Asp) c.2075G>T c.5739G>T (p.Glu1913Asp) c.2928G>T (p.Glu976Asp) | gnomAD v4 |
14 | g.91272865C>G | CA390608789 | CCDC88C | c.5847G>C (p.Glu1949Asp) c.1281G>C (p.Glu427Asp) c.2075G>C c.5739G>C (p.Glu1913Asp) c.2928G>C (p.Glu976Asp) | gnomAD v4 |
14 | g.91272865C>T | CA487828604 | CCDC88C | c.5847G>A (p.Glu1949=) c.1281G>A (p.Glu427=) c.2075G>A c.5739G>A (p.Glu1913=) c.2928G>A (p.Glu976=) | gnomAD v4 |
14 | g.91272866T>A | CA390608791 | CCDC88C | c.5846A>T (p.Glu1949Val) c.1280A>T (p.Glu427Val) c.2074A>T c.5738A>T (p.Glu1913Val) c.2927A>T (p.Glu976Val) | |
14 | g.91272866T>C | CA390608794 | CCDC88C | c.5846A>G (p.Glu1949Gly) c.1280A>G (p.Glu427Gly) c.2074A>G c.5738A>G (p.Glu1913Gly) c.2927A>G (p.Glu976Gly) | gnomAD v4 |
14 | g.91272866T>G | CA390608796 | CCDC88C | c.5846A>C (p.Glu1949Ala) c.1280A>C (p.Glu427Ala) c.2074A>C c.5738A>C (p.Glu1913Ala) c.2927A>C (p.Glu976Ala) | |
14 | g.91272866T= | CA2154900625 | CCDC88C | c.5846A= (p.Glu1949=) c.1280A= (p.Glu427=) c.2074A= c.5738A= (p.Glu1913=) c.2927A= (p.Glu976=) | |
14 | g.91272867C>A | CA7308572 | CCDC88C | c.5845G>T (p.Glu1949Ter) c.1279G>T (p.Glu427Ter) c.2073G>T c.5737G>T (p.Glu1913Ter) c.2926G>T (p.Glu976Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272867C= | CA2154900633 | CCDC88C | c.5845G= (p.Glu1949=) c.1279G= (p.Glu427=) c.2073G= c.5737G= (p.Glu1913=) c.2926G= (p.Glu976=) | |
14 | g.91272867C>G | CA390608798 | CCDC88C | c.5845G>C (p.Glu1949Gln) c.1279G>C (p.Glu427Gln) c.2073G>C c.5737G>C (p.Glu1913Gln) c.2926G>C (p.Glu976Gln) | |
14 | g.91272867C>T | CA390608801 | CCDC88C | c.5845G>A (p.Glu1949Lys) c.1279G>A (p.Glu427Lys) c.2073G>A c.5737G>A (p.Glu1913Lys) c.2926G>A (p.Glu976Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272870dup | CA265517402 | CCDC88C | c.5845dup (p.Glu1949GlyfsTer27) c.1279dup (p.Glu427GlyfsTer27) c.2073dup c.5737dup (p.Glu1913GlyfsTer27) c.2926dup (p.Glu976GlyfsTer27) | dbSNP |
14 | g.91272870del | CA2626127450 | CCDC88C | c.5845del (p.Glu1949ArgfsTer?) c.1279del (p.Glu427ArgfsTer?) c.2073del c.5737del (p.Glu1913ArgfsTer?) c.2926del (p.Glu976ArgfsTer?) | gnomAD v4 |
14 | g.91272868C>A | CA265517410 | CCDC88C | c.5844G>T (p.Gly1948=) c.1278G>T (p.Gly426=) c.2072G>T c.5736G>T (p.Gly1912=) c.2925G>T (p.Gly975=) | dbSNP gnomAD v4 |
14 | g.91272868C= | CA2154900636 | CCDC88C | c.5844G= (p.Gly1948=) c.1278G= (p.Gly426=) c.2072G= c.5736G= (p.Gly1912=) c.2925G= (p.Gly975=) | |
14 | g.91272868C>G | CA487828609 | CCDC88C | c.5844G>C (p.Gly1948=) c.1278G>C (p.Gly426=) c.2072G>C c.5736G>C (p.Gly1912=) c.2925G>C (p.Gly975=) | |
14 | g.91272868C>T | CA487828611 | CCDC88C | c.5844G>A (p.Gly1948=) c.1278G>A (p.Gly426=) c.2072G>A c.5736G>A (p.Gly1912=) c.2925G>A (p.Gly975=) | gnomAD v4 |
14 | g.91272869C>A | CA390608805 | CCDC88C | c.5843G>T (p.Gly1948Val) c.1277G>T (p.Gly426Val) c.2071G>T c.5735G>T (p.Gly1912Val) c.2924G>T (p.Gly975Val) | gnomAD v4 |
14 | g.91272869C= | CA2154900642 | CCDC88C | c.5843G= (p.Gly1948=) c.1277G= (p.Gly426=) c.2071G= c.5735G= (p.Gly1912=) c.2924G= (p.Gly975=) | |
14 | g.91272869C>G | CA390608807 | CCDC88C | c.5843G>C (p.Gly1948Ala) c.1277G>C (p.Gly426Ala) c.2071G>C c.5735G>C (p.Gly1912Ala) c.2924G>C (p.Gly975Ala) | |
14 | g.91272869C>T | CA390608810 | CCDC88C | c.5843G>A (p.Gly1948Glu) c.1277G>A (p.Gly426Glu) c.2071G>A c.5735G>A (p.Gly1912Glu) c.2924G>A (p.Gly975Glu) | dbSNP |
14 | g.91272869_91272871delinsCCT | CA2154900641 | CCDC88C | c.5841_5843delinsAGG (p.Ser1947=) c.1275_1277delinsAGG (p.Ser425=) c.2069_2071delinsAGG c.5733_5735delinsAGG (p.Ser1911=) c.2922_2924delinsAGG (p.Ser974=) | |
14 | g.91272870C>A | CA390608813 | CCDC88C | c.5842G>T (p.Gly1948Trp) c.1276G>T (p.Gly426Trp) c.2070G>T c.5734G>T (p.Gly1912Trp) c.2923G>T (p.Gly975Trp) | gnomAD v4 |
14 | g.91272870C= | CA2154900650 | CCDC88C | c.5842G= (p.Gly1948=) c.1276G= (p.Gly426=) c.2070G= c.5734G= (p.Gly1912=) c.2923G= (p.Gly975=) | |
14 | g.91272870C>G | CA390608816 | CCDC88C | c.5842G>C (p.Gly1948Arg) c.1276G>C (p.Gly426Arg) c.2070G>C c.5734G>C (p.Gly1912Arg) c.2923G>C (p.Gly975Arg) | |
14 | g.91272870C>T | CA7308573 | CCDC88C | c.5842G>A (p.Gly1948Arg) c.1276G>A (p.Gly426Arg) c.2070G>A c.5734G>A (p.Gly1912Arg) c.2923G>A (p.Gly975Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272870_91272871del | CA130650 | CCDC88C | c.5841_5842del (p.Glu1949GlyfsTer26) c.1275_1276del (p.Glu427GlyfsTer26) c.2069_2070del c.5733_5734del (p.Glu1913GlyfsTer26) c.2922_2923del (p.Glu976GlyfsTer26) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272870_91272871insCT | CA709860628 | CCDC88C | c.5841_5842insAG (p.Gly1948ArgfsTer?) c.1275_1276insAG (p.Gly426ArgfsTer?) c.2069_2070insAG c.5733_5734insAG (p.Gly1912ArgfsTer?) c.2922_2923insAG (p.Gly975ArgfsTer?) | |
14 | g.91272871T>A | CA487828621 | CCDC88C | c.5841A>T (p.Ser1947=) c.1275A>T (p.Ser425=) c.2069A>T c.5733A>T (p.Ser1911=) c.2922A>T (p.Ser974=) | dbSNP gnomAD v4 |
14 | g.91272871T>C | CA487828622 | CCDC88C | c.5841A>G (p.Ser1947=) c.1275A>G (p.Ser425=) c.2069A>G c.5733A>G (p.Ser1911=) c.2922A>G (p.Ser974=) | ClinVar dbSNP gnomAD v2 |
14 | g.91272871T>G | CA487828623 | CCDC88C | c.5841A>C (p.Ser1947=) c.1275A>C (p.Ser425=) c.2069A>C c.5733A>C (p.Ser1911=) c.2922A>C (p.Ser974=) | |
14 | g.91272871T= | CA2154900660 | CCDC88C | c.5841A= (p.Ser1947=) c.1275A= (p.Ser425=) c.2069A= c.5733A= (p.Ser1911=) c.2922A= (p.Ser974=) | |
14 | g.91272872G>A | CA390608821 | CCDC88C | c.5840C>T (p.Ser1947Leu) c.1274C>T (p.Ser425Leu) c.2068C>T c.5732C>T (p.Ser1911Leu) c.2921C>T (p.Ser974Leu) | gnomAD v4 |
14 | g.91272872G>C | CA390608824 | CCDC88C | c.5840C>G (p.Ser1947Ter) c.1274C>G (p.Ser425Ter) c.2068C>G c.5732C>G (p.Ser1911Ter) c.2921C>G (p.Ser974Ter) | |
14 | g.91272872G>T | CA390608826 | CCDC88C | c.5840C>A (p.Ser1947Ter) c.1274C>A (p.Ser425Ter) c.2068C>A c.5732C>A (p.Ser1911Ter) c.2921C>A (p.Ser974Ter) | gnomAD v4 |
14 | g.91272873A>C | CA390608833 | CCDC88C | c.5839T>G (p.Ser1947Ala) c.1273T>G (p.Ser425Ala) c.2067T>G c.5731T>G (p.Ser1911Ala) c.2920T>G (p.Ser974Ala) | |
14 | g.91272873A>G | CA390608835 | CCDC88C | c.5839T>C (p.Ser1947Pro) c.1273T>C (p.Ser425Pro) c.2067T>C c.5731T>C (p.Ser1911Pro) c.2920T>C (p.Ser974Pro) | gnomAD v4 |
14 | g.91272873A>T | CA390608830 | CCDC88C | c.5839T>A (p.Ser1947Thr) c.1273T>A (p.Ser425Thr) c.2067T>A c.5731T>A (p.Ser1911Thr) c.2920T>A (p.Ser974Thr) | |
14 | g.91272874G>A | CA487828629 | CCDC88C | c.5838C>T (p.Arg1946=) c.1272C>T (p.Arg424=) c.2066C>T c.5730C>T (p.Arg1910=) c.2919C>T (p.Arg973=) | gnomAD v4 |
14 | g.91272874G>C | CA487828630 | CCDC88C | c.5838C>G (p.Arg1946=) c.1272C>G (p.Arg424=) c.2066C>G c.5730C>G (p.Arg1910=) c.2919C>G (p.Arg973=) | |
14 | g.91272874G>T | CA487828632 | CCDC88C | c.5838C>A (p.Arg1946=) c.1272C>A (p.Arg424=) c.2066C>A c.5730C>A (p.Arg1910=) c.2919C>A (p.Arg973=) | gnomAD v4 |
14 | g.91272875C>A | CA390608838 | CCDC88C | c.5837G>T (p.Arg1946Leu) c.1271G>T (p.Arg424Leu) c.2065G>T c.5729G>T (p.Arg1910Leu) c.2918G>T (p.Arg973Leu) | gnomAD v4 |
14 | g.91272875C= | CA2154900663 | CCDC88C | c.5837G= (p.Arg1946=) c.1271G= (p.Arg424=) c.2065G= c.5729G= (p.Arg1910=) c.2918G= (p.Arg973=) | |
14 | g.91272875C>G | CA390608840 | CCDC88C | c.5837G>C (p.Arg1946Pro) c.1271G>C (p.Arg424Pro) c.2065G>C c.5729G>C (p.Arg1910Pro) c.2918G>C (p.Arg973Pro) | |
14 | g.91272875C>T | CA7308574 | CCDC88C | c.5837G>A (p.Arg1946His) c.1271G>A (p.Arg424His) c.2065G>A c.5729G>A (p.Arg1910His) c.2918G>A (p.Arg973His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272876G>A | CA7308575 | CCDC88C | c.5836C>T (p.Arg1946Cys) c.1270C>T (p.Arg424Cys) c.2064C>T c.5728C>T (p.Arg1910Cys) c.2917C>T (p.Arg973Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272876G>C | CA390608841 | CCDC88C | c.5836C>G (p.Arg1946Gly) c.1270C>G (p.Arg424Gly) c.2064C>G c.5728C>G (p.Arg1910Gly) c.2917C>G (p.Arg973Gly) | |
14 | g.91272876G= | CA2154900672 | CCDC88C | c.5836C= (p.Arg1946=) c.1270C= (p.Arg424=) c.2064C= c.5728C= (p.Arg1910=) c.2917C= (p.Arg973=) | |
14 | g.91272876G>T | CA390608842 | CCDC88C | c.5836C>A (p.Arg1946Ser) c.1270C>A (p.Arg424Ser) c.2064C>A c.5728C>A (p.Arg1910Ser) c.2917C>A (p.Arg973Ser) | gnomAD v4 |
14 | g.91272877T>A | CA487828635 | CCDC88C | c.5835A>T (p.Pro1945=) c.1269A>T (p.Pro423=) c.2063A>T c.5727A>T (p.Pro1909=) c.2916A>T (p.Pro972=) | |
14 | g.91272877T>C | CA7308576 | CCDC88C | c.5835A>G (p.Pro1945=) c.1269A>G (p.Pro423=) c.2063A>G c.5727A>G (p.Pro1909=) c.2916A>G (p.Pro972=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272877T>G | CA487828636 | CCDC88C | c.5835A>C (p.Pro1945=) c.1269A>C (p.Pro423=) c.2063A>C c.5727A>C (p.Pro1909=) c.2916A>C (p.Pro972=) | |
14 | g.91272877T= | CA2154900687 | CCDC88C | c.5835A= (p.Pro1945=) c.1269A= (p.Pro423=) c.2063A= c.5727A= (p.Pro1909=) c.2916A= (p.Pro972=) | |
14 | g.91272878G>A | CA390608843 | CCDC88C | c.5834C>T (p.Pro1945Leu) c.1268C>T (p.Pro423Leu) c.2062C>T c.5726C>T (p.Pro1909Leu) c.2915C>T (p.Pro972Leu) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272878G>C | CA390608845 | CCDC88C | c.5834C>G (p.Pro1945Arg) c.1268C>G (p.Pro423Arg) c.2062C>G c.5726C>G (p.Pro1909Arg) c.2915C>G (p.Pro972Arg) | |
14 | g.91272878G= | CA2154900694 | CCDC88C | c.5834C= (p.Pro1945=) c.1268C= (p.Pro423=) c.2062C= c.5726C= (p.Pro1909=) c.2915C= (p.Pro972=) | |
14 | g.91272878G>T | CA390608844 | CCDC88C | c.5834C>A (p.Pro1945Gln) c.1268C>A (p.Pro423Gln) c.2062C>A c.5726C>A (p.Pro1909Gln) c.2915C>A (p.Pro972Gln) | gnomAD v4 |
14 | g.91272882del | CA645594358 | CCDC88C | c.5834del (p.Pro1945HisfsTer?) c.1268del (p.Pro423HisfsTer?) c.2062del c.5726del (p.Pro1909HisfsTer?) c.2915del (p.Pro972HisfsTer?) | ClinVar gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.91272879G>A | CA390608846 | CCDC88C | c.5833C>T (p.Pro1945Ser) c.1267C>T (p.Pro423Ser) c.2061C>T c.5725C>T (p.Pro1909Ser) c.2914C>T (p.Pro972Ser) | gnomAD v4 |
14 | g.91272879G>C | CA390608847 | CCDC88C | c.5833C>G (p.Pro1945Ala) c.1267C>G (p.Pro423Ala) c.2061C>G c.5725C>G (p.Pro1909Ala) c.2914C>G (p.Pro972Ala) | |
14 | g.91272879G>T | CA390608848 | CCDC88C | c.5833C>A (p.Pro1945Thr) c.1267C>A (p.Pro423Thr) c.2061C>A c.5725C>A (p.Pro1909Thr) c.2914C>A (p.Pro972Thr) | gnomAD v4 |
14 | g.91272880G>A | CA487828638 | CCDC88C | c.5832C>T (p.Pro1944=) c.1266C>T (p.Pro422=) c.2060C>T c.5724C>T (p.Pro1908=) c.2913C>T (p.Pro971=) | gnomAD v4 |
14 | g.91272880G>C | CA7308577 | CCDC88C | c.5832C>G (p.Pro1944=) c.1266C>G (p.Pro422=) c.2060C>G c.5724C>G (p.Pro1908=) c.2913C>G (p.Pro971=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272880G= | CA2154900704 | CCDC88C | c.5832C= (p.Pro1944=) c.1266C= (p.Pro422=) c.2060C= c.5724C= (p.Pro1908=) c.2913C= (p.Pro971=) | |
14 | g.91272880G>T | CA487828639 | CCDC88C | c.5832C>A (p.Pro1944=) c.1266C>A (p.Pro422=) c.2060C>A c.5724C>A (p.Pro1908=) c.2913C>A (p.Pro971=) | gnomAD v4 |
14 | g.91272881G>A | CA390608849 | CCDC88C | c.5831C>T (p.Pro1944Leu) c.1265C>T (p.Pro422Leu) c.2059C>T c.5723C>T (p.Pro1908Leu) c.2912C>T (p.Pro971Leu) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272881G>C | CA390608851 | CCDC88C | c.5831C>G (p.Pro1944Arg) c.1265C>G (p.Pro422Arg) c.2059C>G c.5723C>G (p.Pro1908Arg) c.2912C>G (p.Pro971Arg) | |
14 | g.91272881G= | CA2154900709 | CCDC88C | c.5831C= (p.Pro1944=) c.1265C= (p.Pro422=) c.2059C= c.5723C= (p.Pro1908=) c.2912C= (p.Pro971=) | |
14 | g.91272881G>T | CA390608850 | CCDC88C | c.5831C>A (p.Pro1944His) c.1265C>A (p.Pro422His) c.2059C>A c.5723C>A (p.Pro1908His) c.2912C>A (p.Pro971His) | gnomAD v4 |
14 | g.91272882G>A | CA390608852 | CCDC88C | c.5830C>T (p.Pro1944Ser) c.1264C>T (p.Pro422Ser) c.2058C>T c.5722C>T (p.Pro1908Ser) c.2911C>T (p.Pro971Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.91272882G>C | CA390608853 | CCDC88C | c.5830C>G (p.Pro1944Ala) c.1264C>G (p.Pro422Ala) c.2058C>G c.5722C>G (p.Pro1908Ala) c.2911C>G (p.Pro971Ala) | |
14 | g.91272882G= | CA2154900714 | CCDC88C | c.5830C= (p.Pro1944=) c.1264C= (p.Pro422=) c.2058C= c.5722C= (p.Pro1908=) c.2911C= (p.Pro971=) | |
14 | g.91272882G>T | CA390608854 | CCDC88C | c.5830C>A (p.Pro1944Thr) c.1264C>A (p.Pro422Thr) c.2058C>A c.5722C>A (p.Pro1908Thr) c.2911C>A (p.Pro971Thr) | gnomAD v4 |
14 | g.91272883C>A | CA7308579 | CCDC88C | c.5829G>T (p.Ala1943=) c.1263G>T (p.Ala421=) c.2057G>T c.5721G>T (p.Ala1907=) c.2910G>T (p.Ala970=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272883C= | CA2154900719 | CCDC88C | c.5829G= (p.Ala1943=) c.1263G= (p.Ala421=) c.2057G= c.5721G= (p.Ala1907=) c.2910G= (p.Ala970=) | |
14 | g.91272883C>G | CA487828645 | CCDC88C | c.5829G>C (p.Ala1943=) c.1263G>C (p.Ala421=) c.2057G>C c.5721G>C (p.Ala1907=) c.2910G>C (p.Ala970=) | |
14 | g.91272883C>T | CA7308578 | CCDC88C | c.5829G>A (p.Ala1943=) c.1263G>A (p.Ala421=) c.2057G>A c.5721G>A (p.Ala1907=) c.2910G>A (p.Ala970=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272884G>A | CA265517441 | CCDC88C | c.5828C>T (p.Ala1943Val) c.1262C>T (p.Ala421Val) c.2056C>T c.5720C>T (p.Ala1907Val) c.2909C>T (p.Ala970Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272884G>C | CA390608855 | CCDC88C | c.5828C>G (p.Ala1943Gly) c.1262C>G (p.Ala421Gly) c.2056C>G c.5720C>G (p.Ala1907Gly) c.2909C>G (p.Ala970Gly) | |
14 | g.91272884G= | CA2154900724 | CCDC88C | c.5828C= (p.Ala1943=) c.1262C= (p.Ala421=) c.2056C= c.5720C= (p.Ala1907=) c.2909C= (p.Ala970=) | |
14 | g.91272884G>T | CA390608856 | CCDC88C | c.5828C>A (p.Ala1943Glu) c.1262C>A (p.Ala421Glu) c.2056C>A c.5720C>A (p.Ala1907Glu) c.2909C>A (p.Ala970Glu) | gnomAD v4 |
14 | g.91272885C>A | CA390608857 | CCDC88C | c.5827G>T (p.Ala1943Ser) c.1261G>T (p.Ala421Ser) c.2055G>T c.5719G>T (p.Ala1907Ser) c.2908G>T (p.Ala970Ser) | gnomAD v4 |
14 | g.91272885C>G | CA390608858 | CCDC88C | c.5827G>C (p.Ala1943Pro) c.1261G>C (p.Ala421Pro) c.2055G>C c.5719G>C (p.Ala1907Pro) c.2908G>C (p.Ala970Pro) | |
14 | g.91272885C>T | CA390608859 | CCDC88C | c.5827G>A (p.Ala1943Thr) c.1261G>A (p.Ala421Thr) c.2055G>A c.5719G>A (p.Ala1907Thr) c.2908G>A (p.Ala970Thr) | gnomAD v4 |
14 | g.91272886C>A | CA390608860 | CCDC88C | c.5826G>T (p.Lys1942Asn) c.1260G>T (p.Lys420Asn) c.2054G>T c.5718G>T (p.Lys1906Asn) c.2907G>T (p.Lys969Asn) | gnomAD v4 |
14 | g.91272886C= | CA2154900727 | CCDC88C | c.5826G= (p.Lys1942=) c.1260G= (p.Lys420=) c.2054G= c.5718G= (p.Lys1906=) c.2907G= (p.Lys969=) | |
14 | g.91272886C>G | CA390608861 | CCDC88C | c.5826G>C (p.Lys1942Asn) c.1260G>C (p.Lys420Asn) c.2054G>C c.5718G>C (p.Lys1906Asn) c.2907G>C (p.Lys969Asn) | |
14 | g.91272886C>T | CA7308580 | CCDC88C | c.5826G>A (p.Lys1942=) c.1260G>A (p.Lys420=) c.2054G>A c.5718G>A (p.Lys1906=) c.2907G>A (p.Lys969=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272887T>A | CA390608862 | CCDC88C | c.5825A>T (p.Lys1942Met) c.1259A>T (p.Lys420Met) c.2053A>T c.5717A>T (p.Lys1906Met) c.2906A>T (p.Lys969Met) | gnomAD v4 |
14 | g.91272887T>C | CA265517449 | CCDC88C | c.5825A>G (p.Lys1942Arg) c.1259A>G (p.Lys420Arg) c.2053A>G c.5717A>G (p.Lys1906Arg) c.2906A>G (p.Lys969Arg) | dbSNP |
14 | g.91272887T>G | CA390608863 | CCDC88C | c.5825A>C (p.Lys1942Thr) c.1259A>C (p.Lys420Thr) c.2053A>C c.5717A>C (p.Lys1906Thr) c.2906A>C (p.Lys969Thr) | |
14 | g.91272887T= | CA2154900728 | CCDC88C | c.5825A= (p.Lys1942=) c.1259A= (p.Lys420=) c.2053A= c.5717A= (p.Lys1906=) c.2906A= (p.Lys969=) | |
14 | g.91272888T>A | CA390608864 | CCDC88C | c.5824A>T (p.Lys1942Ter) c.1258A>T (p.Lys420Ter) c.2052A>T c.5716A>T (p.Lys1906Ter) c.2905A>T (p.Lys969Ter) | |
14 | g.91272888T>C | CA390608865 | CCDC88C | c.5824A>G (p.Lys1942Glu) c.1258A>G (p.Lys420Glu) c.2052A>G c.5716A>G (p.Lys1906Glu) c.2905A>G (p.Lys969Glu) | gnomAD v4 |
14 | g.91272888T>G | CA390608866 | CCDC88C | c.5824A>C (p.Lys1942Gln) c.1258A>C (p.Lys420Gln) c.2052A>C c.5716A>C (p.Lys1906Gln) c.2905A>C (p.Lys969Gln) | |
14 | g.91272889G>A | CA487828655 | CCDC88C | c.5823C>T (p.Pro1941=) c.1257C>T (p.Pro419=) c.2051C>T c.5715C>T (p.Pro1905=) c.2904C>T (p.Pro968=) | |
14 | g.91272889G>C | CA487828658 | CCDC88C | c.5823C>G (p.Pro1941=) c.1257C>G (p.Pro419=) c.2051C>G c.5715C>G (p.Pro1905=) c.2904C>G (p.Pro968=) | |
14 | g.91272889G>T | CA487828659 | CCDC88C | c.5823C>A (p.Pro1941=) c.1257C>A (p.Pro419=) c.2051C>A c.5715C>A (p.Pro1905=) c.2904C>A (p.Pro968=) | gnomAD v4 |
14 | g.91272891del | CA2626127570 | CCDC88C | c.5823del (p.Lys1942ArgfsTer?) c.1257del (p.Lys420ArgfsTer?) c.2051del c.5715del (p.Lys1906ArgfsTer?) c.2904del (p.Lys969ArgfsTer?) | gnomAD v4 |
14 | g.91272890G>A | CA390608867 | CCDC88C | c.5822C>T (p.Pro1941Leu) c.1256C>T (p.Pro419Leu) c.2050C>T c.5714C>T (p.Pro1905Leu) c.2903C>T (p.Pro968Leu) | gnomAD v4 |
14 | g.91272890G>C | CA390608868 | CCDC88C | c.5822C>G (p.Pro1941Arg) c.1256C>G (p.Pro419Arg) c.2050C>G c.5714C>G (p.Pro1905Arg) c.2903C>G (p.Pro968Arg) | |
14 | g.91272890G>T | CA390608869 | CCDC88C | c.5822C>A (p.Pro1941His) c.1256C>A (p.Pro419His) c.2050C>A c.5714C>A (p.Pro1905His) c.2903C>A (p.Pro968His) | gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.91272891G>A | CA390608872 | CCDC88C | c.5821C>T (p.Pro1941Ser) c.1255C>T (p.Pro419Ser) c.2049C>T c.5713C>T (p.Pro1905Ser) c.2902C>T (p.Pro968Ser) | gnomAD v4 |
14 | g.91272891G>C | CA390608870 | CCDC88C | c.5821C>G (p.Pro1941Ala) c.1255C>G (p.Pro419Ala) c.2049C>G c.5713C>G (p.Pro1905Ala) c.2902C>G (p.Pro968Ala) | |
14 | g.91272891G>T | CA390608871 | CCDC88C | c.5821C>A (p.Pro1941Thr) c.1255C>A (p.Pro419Thr) c.2049C>A c.5713C>A (p.Pro1905Thr) c.2902C>A (p.Pro968Thr) | gnomAD v4 |
14 | g.91272892C>A | CA390608873 | CCDC88C | c.5820G>T (p.Lys1940Asn) c.1254G>T (p.Lys418Asn) c.2048G>T c.5712G>T (p.Lys1904Asn) c.2901G>T (p.Lys967Asn) | gnomAD v4 |
14 | g.91272892C>G | CA390608874 | CCDC88C | c.5820G>C (p.Lys1940Asn) c.1254G>C (p.Lys418Asn) c.2048G>C c.5712G>C (p.Lys1904Asn) c.2901G>C (p.Lys967Asn) | |
14 | g.91272892C>T | CA487828666 | CCDC88C | c.5820G>A (p.Lys1940=) c.1254G>A (p.Lys418=) c.2048G>A c.5712G>A (p.Lys1904=) c.2901G>A (p.Lys967=) | |
14 | g.91272893T>A | CA390608875 | CCDC88C | c.5819A>T (p.Lys1940Met) c.1253A>T (p.Lys418Met) c.2047A>T c.5711A>T (p.Lys1904Met) c.2900A>T (p.Lys967Met) | |
14 | g.91272893T>C | CA390608876 | CCDC88C | c.5819A>G (p.Lys1940Arg) c.1253A>G (p.Lys418Arg) c.2047A>G c.5711A>G (p.Lys1904Arg) c.2900A>G (p.Lys967Arg) | gnomAD v4 |
14 | g.91272893T>G | CA390608877 | CCDC88C | c.5819A>C (p.Lys1940Thr) c.1253A>C (p.Lys418Thr) c.2047A>C c.5711A>C (p.Lys1904Thr) c.2900A>C (p.Lys967Thr) | |
14 | g.91272894T>A | CA7308581 | CCDC88C | c.5818A>T (p.Lys1940Ter) c.1252A>T (p.Lys418Ter) c.2046A>T c.5710A>T (p.Lys1904Ter) c.2899A>T (p.Lys967Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272894T>C | CA390608879 | CCDC88C | c.5818A>G (p.Lys1940Glu) c.1252A>G (p.Lys418Glu) c.2046A>G c.5710A>G (p.Lys1904Glu) c.2899A>G (p.Lys967Glu) | gnomAD v4 |
14 | g.91272894T>G | CA390608878 | CCDC88C | c.5818A>C (p.Lys1940Gln) c.1252A>C (p.Lys418Gln) c.2046A>C c.5710A>C (p.Lys1904Gln) c.2899A>C (p.Lys967Gln) | |
14 | g.91272894T= | CA2154900731 | CCDC88C | c.5818A= (p.Lys1940=) c.1252A= (p.Lys418=) c.2046A= c.5710A= (p.Lys1904=) c.2899A= (p.Lys967=) | |
14 | g.91272895G>A | CA7308582 | CCDC88C | c.5817C>T (p.Thr1939=) c.1251C>T (p.Thr417=) c.2045C>T c.5709C>T (p.Thr1903=) c.2898C>T (p.Thr966=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91272895G>C | CA487828672 | CCDC88C | c.5817C>G (p.Thr1939=) c.1251C>G (p.Thr417=) c.2045C>G c.5709C>G (p.Thr1903=) c.2898C>G (p.Thr966=) | gnomAD v4 |
14 | g.91272895G= | CA2154900734 | CCDC88C | c.5817C= (p.Thr1939=) c.1251C= (p.Thr417=) c.2045C= c.5709C= (p.Thr1903=) c.2898C= (p.Thr966=) | |
14 | g.91272895G>T | CA487828674 | CCDC88C | c.5817C>A (p.Thr1939=) c.1251C>A (p.Thr417=) c.2045C>A c.5709C>A (p.Thr1903=) c.2898C>A (p.Thr966=) | gnomAD v4 |
14 | g.91272896G>A | CA390608880 | CCDC88C | c.5816C>T (p.Thr1939Ile) c.1250C>T (p.Thr417Ile) c.2044C>T c.5708C>T (p.Thr1903Ile) c.2897C>T (p.Thr966Ile) | |
14 | g.91272896G>C | CA390608881 | CCDC88C | c.5816C>G (p.Thr1939Ser) c.1250C>G (p.Thr417Ser) c.2044C>G c.5708C>G (p.Thr1903Ser) c.2897C>G (p.Thr966Ser) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91272896G= | CA2154900740 | CCDC88C | c.5816C= (p.Thr1939=) c.1250C= (p.Thr417=) c.2044C= c.5708C= (p.Thr1903=) c.2897C= (p.Thr966=) | |
14 | g.91272896G>T | CA390608882 | CCDC88C | c.5816C>A (p.Thr1939Asn) c.1250C>A (p.Thr417Asn) c.2044C>A c.5708C>A (p.Thr1903Asn) c.2897C>A (p.Thr966Asn) | gnomAD v4 |
14 | g.91272897T>A | CA390608883 | CCDC88C | c.5815A>T (p.Thr1939Ser) c.1249A>T (p.Thr417Ser) c.2043A>T c.5707A>T (p.Thr1903Ser) c.2896A>T (p.Thr966Ser) | |
14 | g.91272897T>C | CA390608884 | CCDC88C | c.5815A>G (p.Thr1939Ala) c.1249A>G (p.Thr417Ala) c.2043A>G c.5707A>G (p.Thr1903Ala) c.2896A>G (p.Thr966Ala) | |
14 | g.91272897T>G | CA390608885 | CCDC88C | c.5815A>C (p.Thr1939Pro) c.1249A>C (p.Thr417Pro) c.2043A>C c.5707A>C (p.Thr1903Pro) c.2896A>C (p.Thr966Pro) | |
14 | g.91272898C>A | CA390608886 | CCDC88C | c.5814G>T (p.Arg1938Ser) c.1248G>T (p.Arg416Ser) c.2042G>T c.5706G>T (p.Arg1902Ser) c.2895G>T (p.Arg965Ser) | gnomAD v4 |
14 | g.91272898C= | CA2154900742 | CCDC88C | c.5814G= (p.Arg1938=) c.1248G= (p.Arg416=) c.2042G= c.5706G= (p.Arg1902=) c.2895G= (p.Arg965=) | |
14 | g.91272898C>G | CA390608887 | CCDC88C | c.5814G>C (p.Arg1938Ser) c.1248G>C (p.Arg416Ser) c.2042G>C c.5706G>C (p.Arg1902Ser) c.2895G>C (p.Arg965Ser) | dbSNP |
14 | g.91272898C>T | CA487828677 | CCDC88C | c.5814G>A (p.Arg1938=) c.1248G>A (p.Arg416=) c.2042G>A c.5706G>A (p.Arg1902=) c.2895G>A (p.Arg965=) | gnomAD v4 |
14 | g.91272899C>A | CA390608888 | CCDC88C | c.5813G>T (p.Arg1938Met) c.1247G>T (p.Arg416Met) c.2041G>T c.5705G>T (p.Arg1902Met) c.2894G>T (p.Arg965Met) | gnomAD v4 |
14 | g.91272899C>G | CA390608889 | CCDC88C | c.5813G>C (p.Arg1938Thr) c.1247G>C (p.Arg416Thr) c.2041G>C c.5705G>C (p.Arg1902Thr) c.2894G>C (p.Arg965Thr) | |
14 | g.91272899C>T | CA390608890 | CCDC88C | c.5813G>A (p.Arg1938Lys) c.1247G>A (p.Arg416Lys) c.2041G>A c.5705G>A (p.Arg1902Lys) c.2894G>A (p.Arg965Lys) | gnomAD v4 |
14 | g.91272900T>A | CA390608891 | CCDC88C | c.5812A>T (p.Arg1938Trp) c.1246A>T (p.Arg416Trp) c.2040A>T c.5704A>T (p.Arg1902Trp) c.2893A>T (p.Arg965Trp) | |
14 | g.91272900T>C | CA390608892 | CCDC88C | c.5812A>G (p.Arg1938Gly) c.1246A>G (p.Arg416Gly) c.2040A>G c.5704A>G (p.Arg1902Gly) c.2893A>G (p.Arg965Gly) | gnomAD v4 |
14 | g.91272900T>G | CA487828682 | CCDC88C | c.5812A>C (p.Arg1938=) c.1246A>C (p.Arg416=) c.2040A>C c.5704A>C (p.Arg1902=) c.2893A>C (p.Arg965=) | |
14 | g.91272901G>A | CA487828685 | CCDC88C | c.5811C>T (p.Ala1937=) c.1245C>T (p.Ala415=) c.2039C>T c.5703C>T (p.Ala1901=) c.2892C>T (p.Ala964=) | ClinVar dbSNP gnomAD v4 |
14 | g.91272901G>C | CA487828688 | CCDC88C | c.5811C>G (p.Ala1937=) c.1245C>G (p.Ala415=) c.2039C>G c.5703C>G (p.Ala1901=) c.2892C>G (p.Ala964=) | |
14 | g.91272901G= | CA2154900744 | CCDC88C | c.5811C= (p.Ala1937=) c.1245C= (p.Ala415=) c.2039C= c.5703C= (p.Ala1901=) c.2892C= (p.Ala964=) | |
14 | g.91272901G>T | CA487828687 | CCDC88C | c.5811C>A (p.Ala1937=) c.1245C>A (p.Ala415=) c.2039C>A c.5703C>A (p.Ala1901=) c.2892C>A (p.Ala964=) | gnomAD v4 |
14 | g.91272902G>A | CA390608893 | CCDC88C | c.5810C>T (p.Ala1937Val) c.1244C>T (p.Ala415Val) c.2038C>T c.5702C>T (p.Ala1901Val) c.2891C>T (p.Ala964Val) | gnomAD v4 |
14 | g.91272902G>C | CA390608894 | CCDC88C | c.5810C>G (p.Ala1937Gly) c.1244C>G (p.Ala415Gly) c.2038C>G c.5702C>G (p.Ala1901Gly) c.2891C>G (p.Ala964Gly) | |
14 | g.91272902G>T | CA390608895 | CCDC88C | c.5810C>A (p.Ala1937Asp) c.1244C>A (p.Ala415Asp) c.2038C>A c.5702C>A (p.Ala1901Asp) c.2891C>A (p.Ala964Asp) | gnomAD v4 |
14 | g.91272903C>A | CA390608896 | CCDC88C | c.5809G>T (p.Ala1937Ser) c.1243G>T (p.Ala415Ser) c.2037G>T c.5701G>T (p.Ala1901Ser) c.2890G>T (p.Ala964Ser) | gnomAD v4 |
14 | g.91272903C>G | CA390608897 | CCDC88C | c.5809G>C (p.Ala1937Pro) c.1243G>C (p.Ala415Pro) c.2037G>C c.5701G>C (p.Ala1901Pro) c.2890G>C (p.Ala964Pro) | |
14 | g.91272903C>T | CA390608898 | CCDC88C | c.5809G>A (p.Ala1937Thr) c.1243G>A (p.Ala415Thr) c.2037G>A c.5701G>A (p.Ala1901Thr) c.2890G>A (p.Ala964Thr) | gnomAD v4 |
14 | g.91272904A>C | CA487828690 | CCDC88C | c.5808T>G (p.Ala1936=) c.1242T>G (p.Ala414=) c.2036T>G c.5700T>G (p.Ala1900=) c.2889T>G (p.Ala963=) | |
14 | g.91272904A>G | CA487828691 | CCDC88C | c.5808T>C (p.Ala1936=) c.1242T>C (p.Ala414=) c.2036T>C c.5700T>C (p.Ala1900=) c.2889T>C (p.Ala963=) | gnomAD v4 |
14 | g.91272904A>T | CA487828693 | CCDC88C | c.5808T>A (p.Ala1936=) c.1242T>A (p.Ala414=) c.2036T>A c.5700T>A (p.Ala1900=) c.2889T>A (p.Ala963=) | |
14 | g.91272905G>A | CA390608899 | CCDC88C | c.5807C>T (p.Ala1936Val) c.1241C>T (p.Ala414Val) c.2035C>T c.5699C>T (p.Ala1900Val) c.2888C>T (p.Ala963Val) | gnomAD v4 |
14 | g.91272905G>C | CA390608900 | CCDC88C | c.5807C>G (p.Ala1936Gly) c.1241C>G (p.Ala414Gly) c.2035C>G c.5699C>G (p.Ala1900Gly) c.2888C>G (p.Ala963Gly) | |
14 | g.91272905G>T | CA390608901 | CCDC88C | c.5807C>A (p.Ala1936Asp) c.1241C>A (p.Ala414Asp) c.2035C>A c.5699C>A (p.Ala1900Asp) c.2888C>A (p.Ala963Asp) | gnomAD v4 |
14 | g.91272906C>A | CA390608902 | CCDC88C | c.5806G>T (p.Ala1936Ser) c.1240G>T (p.Ala414Ser) c.2034G>T c.5698G>T (p.Ala1900Ser) c.2887G>T (p.Ala963Ser) | gnomAD v4 |
14 | g.91272906C>G | CA390608903 | CCDC88C | c.5806G>C (p.Ala1936Pro) c.1240G>C (p.Ala414Pro) c.2034G>C c.5698G>C (p.Ala1900Pro) c.2887G>C (p.Ala963Pro) | |
14 | g.91272906C>T | CA390608904 | CCDC88C | c.5806G>A (p.Ala1936Thr) c.1240G>A (p.Ala414Thr) c.2034G>A c.5698G>A (p.Ala1900Thr) c.2887G>A (p.Ala963Thr) | gnomAD v4 |
14 | g.91272907C>A | CA487828699 | CCDC88C | c.5805G>T (p.Pro1935=) c.1239G>T (p.Pro413=) c.2033G>T c.5697G>T (p.Pro1899=) c.2886G>T (p.Pro962=) | gnomAD v4 |
14 | g.91272907C= | CA2154900749 | CCDC88C | c.5805G= (p.Pro1935=) c.1239G= (p.Pro413=) c.2033G= c.5697G= (p.Pro1899=) c.2886G= (p.Pro962=) | |
14 | g.91272907C>G | CA487828702 | CCDC88C | c.5805G>C (p.Pro1935=) c.1239G>C (p.Pro413=) c.2033G>C c.5697G>C (p.Pro1899=) c.2886G>C (p.Pro962=) | ClinVar |
14 | g.91272907C>T | CA7308583 | CCDC88C | c.5805G>A (p.Pro1935=) c.1239G>A (p.Pro413=) c.2033G>A c.5697G>A (p.Pro1899=) c.2886G>A (p.Pro962=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272908G>A | CA7308584 | CCDC88C | c.5804C>T (p.Pro1935Leu) c.1238C>T (p.Pro413Leu) c.2032C>T c.5696C>T (p.Pro1899Leu) c.2885C>T (p.Pro962Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272908G>C | CA390608906 | CCDC88C | c.5804C>G (p.Pro1935Arg) c.1238C>G (p.Pro413Arg) c.2032C>G c.5696C>G (p.Pro1899Arg) c.2885C>G (p.Pro962Arg) | gnomAD v4 |
14 | g.91272908G= | CA2154900752 | CCDC88C | c.5804C= (p.Pro1935=) c.1238C= (p.Pro413=) c.2032C= c.5696C= (p.Pro1899=) c.2885C= (p.Pro962=) | |
14 | g.91272908G>T | CA390608905 | CCDC88C | c.5804C>A (p.Pro1935Gln) c.1238C>A (p.Pro413Gln) c.2032C>A c.5696C>A (p.Pro1899Gln) c.2885C>A (p.Pro962Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91272910_91272921dup | CA965920973 | CCDC88C | c.5793_5804dup (p.Pro1935_Ala1936insAlaAlaAlaPro) c.1227_1238dup (p.Pro413_Ala414insAlaAlaAlaPro) c.2021_2032dup c.5685_5696dup (p.Pro1899_Ala1900insAlaAlaAlaPro) c.2874_2885dup (p.Pro962_Ala963insAlaAlaAlaPro) | dbSNP gnomAD v3 gnomAD v4 |