| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.15984263_15984274delinsCAAGGGGTCGAT | CA1440892933 | PROM1 | c.2362_2373delinsATCGACCCCTTG (p.Ile788=) c.*2045_*2056delinsATCGACCCCTTG (n.*2045_*2056delinsATCGACCCCTTG) c.2335_2346delinsATCGACCCCTTG (p.Ile779=) c.30_41delinsATCGACCCCTTG c.113_124delinsATCGACCCCTTG c.2128_2139delinsATCGACCCCTTG (p.Ile710=) c.2269_2280delinsATCGACCCCTTG (p.Ile757=) c.2155_2166delinsATCGACCCCTTG (p.Ile719=) c.2089_2100delinsATCGACCCCTTG (p.Ile697=) | |
| 4 | g.15984266_15984276del | CA2866413 | PROM1 | c.2362_2372del (p.Ile788GlufsTer26) c.*2045_*2055del (n.*2045_*2055del) c.2335_2345del (p.Ile779GlufsTer26) c.30_40del c.113_123del c.2128_2138del (p.Ile710GlufsTer26) c.2269_2279del (p.Ile757GlufsTer26) c.2155_2165del (p.Ile719GlufsTer26) c.2089_2099del (p.Ile697GlufsTer26) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.15984272G>A | CA2866416 | PROM1 | c.2364C>T (p.Ile788=) c.*2047C>T (n.*2047C>T) c.2337C>T (p.Ile779=) c.32C>T c.115C>T c.2130C>T (p.Ile710=) c.2271C>T (p.Ile757=) c.2157C>T (p.Ile719=) c.2091C>T (p.Ile697=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.15984272G>C | CA356426890 | PROM1 | c.2364C>G (p.Ile788Met) c.*2047C>G (n.*2047C>G) c.2337C>G (p.Ile779Met) c.32C>G c.115C>G c.2130C>G (p.Ile710Met) c.2271C>G (p.Ile757Met) c.2157C>G (p.Ile719Met) c.2091C>G (p.Ile697Met) | |
| 4 | g.15984272G= | CA1440892940 | PROM1 | c.2364C= (p.Ile788=) c.*2047C= (n.*2047C=) c.2337C= (p.Ile779=) c.32C= c.115C= c.2130C= (p.Ile710=) c.2271C= (p.Ile757=) c.2157C= (p.Ile719=) c.2091C= (p.Ile697=) | |
| 4 | g.15984272G>T | CA438381407 | PROM1 | c.2364C>A (p.Ile788=) c.*2047C>A (n.*2047C>A) c.2337C>A (p.Ile779=) c.32C>A c.115C>A c.2130C>A (p.Ile710=) c.2271C>A (p.Ile757=) c.2157C>A (p.Ile719=) c.2091C>A (p.Ile697=) | |
| 4 | g.15984273A>C | CA356426891 | PROM1 | c.2363T>G (p.Ile788Ser) c.*2046T>G (n.*2046T>G) c.2336T>G (p.Ile779Ser) c.31T>G c.114T>G c.2129T>G (p.Ile710Ser) c.2270T>G (p.Ile757Ser) c.2156T>G (p.Ile719Ser) c.2090T>G (p.Ile697Ser) | |
| 4 | g.15984273A>G | CA356426892 | PROM1 | c.2363T>C (p.Ile788Thr) c.*2046T>C (n.*2046T>C) c.2336T>C (p.Ile779Thr) c.31T>C c.114T>C c.2129T>C (p.Ile710Thr) c.2270T>C (p.Ile757Thr) c.2156T>C (p.Ile719Thr) c.2090T>C (p.Ile697Thr) | |
| 4 | g.15984273A>T | CA356426893 | PROM1 | c.2363T>A (p.Ile788Asn) c.*2046T>A (n.*2046T>A) c.2336T>A (p.Ile779Asn) c.31T>A c.114T>A c.2129T>A (p.Ile710Asn) c.2270T>A (p.Ile757Asn) c.2156T>A (p.Ile719Asn) c.2090T>A (p.Ile697Asn) | gnomAD v4 |
| 4 | g.15984274T>A | CA356426894 | PROM1 | c.2362A>T (p.Ile788Phe) c.*2045A>T (n.*2045A>T) c.2335A>T (p.Ile779Phe) c.30A>T c.113A>T c.2128A>T (p.Ile710Phe) c.2269A>T (p.Ile757Phe) c.2155A>T (p.Ile719Phe) c.2089A>T (p.Ile697Phe) | |
| 4 | g.15984274T>C | CA356426895 | PROM1 | c.2362A>G (p.Ile788Val) c.*2045A>G (n.*2045A>G) c.2335A>G (p.Ile779Val) c.30A>G c.113A>G c.2128A>G (p.Ile710Val) c.2269A>G (p.Ile757Val) c.2155A>G (p.Ile719Val) c.2089A>G (p.Ile697Val) | |
| 4 | g.15984274T>G | CA356426896 | PROM1 | c.2362A>C (p.Ile788Leu) c.*2045A>C (n.*2045A>C) c.2335A>C (p.Ile779Leu) c.30A>C c.113A>C c.2128A>C (p.Ile710Leu) c.2269A>C (p.Ile757Leu) c.2155A>C (p.Ile719Leu) c.2089A>C (p.Ile697Leu) | |
| 4 | g.15984275A= | CA1440892941 | PROM1 | c.2361T= (p.Ile787=) c.*2044T= (n.*2044T=) c.2334T= (p.Ile778=) c.29T= c.112T= c.2127T= (p.Ile709=) c.2268T= (p.Ile756=) c.2154T= (p.Ile718=) c.2088T= (p.Ile696=) | |
| 4 | g.15984275A>C | CA356426897 | PROM1 | c.2361T>G (p.Ile787Met) c.*2044T>G (n.*2044T>G) c.2334T>G (p.Ile778Met) c.29T>G c.112T>G c.2127T>G (p.Ile709Met) c.2268T>G (p.Ile756Met) c.2154T>G (p.Ile718Met) c.2088T>G (p.Ile696Met) | |
| 4 | g.15984275A>G | CA438381408 | PROM1 | c.2361T>C (p.Ile787=) c.*2044T>C (n.*2044T>C) c.2334T>C (p.Ile778=) c.29T>C c.112T>C c.2127T>C (p.Ile709=) c.2268T>C (p.Ile756=) c.2154T>C (p.Ile718=) c.2088T>C (p.Ile696=) | |
| 4 | g.15984275A>T | CA2866417 | PROM1 | c.2361T>A (p.Ile787=) c.*2044T>A (n.*2044T>A) c.2334T>A (p.Ile778=) c.29T>A c.112T>A c.2127T>A (p.Ile709=) c.2268T>A (p.Ile756=) c.2154T>A (p.Ile718=) c.2088T>A (p.Ile696=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.15984276A>C | CA356426898 | PROM1 | c.2360T>G (p.Ile787Ser) c.*2043T>G (n.*2043T>G) c.2333T>G (p.Ile778Ser) c.28T>G c.111T>G c.2126T>G (p.Ile709Ser) c.2267T>G (p.Ile756Ser) c.2153T>G (p.Ile718Ser) c.2087T>G (p.Ile696Ser) | |
| 4 | g.15984276A>G | CA356426899 | PROM1 | c.2360T>C (p.Ile787Thr) c.*2043T>C (n.*2043T>C) c.2333T>C (p.Ile778Thr) c.28T>C c.111T>C c.2126T>C (p.Ile709Thr) c.2267T>C (p.Ile756Thr) c.2153T>C (p.Ile718Thr) c.2087T>C (p.Ile696Thr) | |
| 4 | g.15984276A>T | CA356426900 | PROM1 | c.2360T>A (p.Ile787Asn) c.*2043T>A (n.*2043T>A) c.2333T>A (p.Ile778Asn) c.28T>A c.111T>A c.2126T>A (p.Ile709Asn) c.2267T>A (p.Ile756Asn) c.2153T>A (p.Ile718Asn) c.2087T>A (p.Ile696Asn) | |
| 4 | g.15984277T>A | CA356426901 | PROM1 | c.2359A>T (p.Ile787Phe) c.*2042A>T (n.*2042A>T) c.2332A>T (p.Ile778Phe) c.27A>T c.110A>T c.2125A>T (p.Ile709Phe) c.2266A>T (p.Ile756Phe) c.2152A>T (p.Ile718Phe) c.2086A>T (p.Ile696Phe) | |
| 4 | g.15984277T>C | CA356426902 | PROM1 | c.2359A>G (p.Ile787Val) c.*2042A>G (n.*2042A>G) c.2332A>G (p.Ile778Val) c.27A>G c.110A>G c.2125A>G (p.Ile709Val) c.2266A>G (p.Ile756Val) c.2152A>G (p.Ile718Val) c.2086A>G (p.Ile696Val) | gnomAD v4 |
| 4 | g.15984277T>G | CA356426903 | PROM1 | c.2359A>C (p.Ile787Leu) c.*2042A>C (n.*2042A>C) c.2332A>C (p.Ile778Leu) c.27A>C c.110A>C c.2125A>C (p.Ile709Leu) c.2266A>C (p.Ile756Leu) c.2152A>C (p.Ile718Leu) c.2086A>C (p.Ile696Leu) | gnomAD v4 |
| 4 | g.15984278G>A | CA2866418 | PROM1 | c.2358C>T (p.Tyr786=) c.*2041C>T (n.*2041C>T) c.2331C>T (p.Tyr777=) c.26C>T c.109C>T c.2124C>T (p.Tyr708=) c.2265C>T (p.Tyr755=) c.2151C>T (p.Tyr717=) c.2085C>T (p.Tyr695=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.15984278G>C | CA356426905 | PROM1 | c.2358C>G (p.Tyr786Ter) c.*2041C>G (n.*2041C>G) c.2331C>G (p.Tyr777Ter) c.26C>G c.109C>G c.2124C>G (p.Tyr708Ter) c.2265C>G (p.Tyr755Ter) c.2151C>G (p.Tyr717Ter) c.2085C>G (p.Tyr695Ter) | |
| 4 | g.15984278G= | CA1440892942 | PROM1 | c.2358C= (p.Tyr786=) c.*2041C= (n.*2041C=) c.2331C= (p.Tyr777=) c.26C= c.109C= c.2124C= (p.Tyr708=) c.2265C= (p.Tyr755=) c.2151C= (p.Tyr717=) c.2085C= (p.Tyr695=) | |
| 4 | g.15984278G>T | CA356426904 | PROM1 | c.2358C>A (p.Tyr786Ter) c.*2041C>A (n.*2041C>A) c.2331C>A (p.Tyr777Ter) c.26C>A c.109C>A c.2124C>A (p.Tyr708Ter) c.2265C>A (p.Tyr755Ter) c.2151C>A (p.Tyr717Ter) c.2085C>A (p.Tyr695Ter) | |
| 4 | g.15984279T>A | CA356426906 | PROM1 | c.2357A>T (p.Tyr786Phe) c.*2040A>T (n.*2040A>T) c.2330A>T (p.Tyr777Phe) c.25A>T c.108A>T c.2123A>T (p.Tyr708Phe) c.2264A>T (p.Tyr755Phe) c.2150A>T (p.Tyr717Phe) c.2084A>T (p.Tyr695Phe) | |
| 4 | g.15984279T>C | CA356426907 | PROM1 | c.2357A>G (p.Tyr786Cys) c.*2040A>G (n.*2040A>G) c.2330A>G (p.Tyr777Cys) c.25A>G c.108A>G c.2123A>G (p.Tyr708Cys) c.2264A>G (p.Tyr755Cys) c.2150A>G (p.Tyr717Cys) c.2084A>G (p.Tyr695Cys) | ClinVar dbSNP gnomAD v4 |
| 4 | g.15984279T>G | CA356426908 | PROM1 | c.2357A>C (p.Tyr786Ser) c.*2040A>C (n.*2040A>C) c.2330A>C (p.Tyr777Ser) c.25A>C c.108A>C c.2123A>C (p.Tyr708Ser) c.2264A>C (p.Tyr755Ser) c.2150A>C (p.Tyr717Ser) c.2084A>C (p.Tyr695Ser) | |
| 4 | g.15984279T= | CA1440892943 | PROM1 | c.2357A= (p.Tyr786=) c.*2040A= (n.*2040A=) c.2330A= (p.Tyr777=) c.25A= c.108A= c.2123A= (p.Tyr708=) c.2264A= (p.Tyr755=) c.2150A= (p.Tyr717=) c.2084A= (p.Tyr695=) | |
| 4 | g.15984280A>C | CA356426909 | PROM1 | c.2356T>G (p.Tyr786Asp) c.*2039T>G (n.*2039T>G) c.2329T>G (p.Tyr777Asp) c.24T>G c.107T>G c.2122T>G (p.Tyr708Asp) c.2263T>G (p.Tyr755Asp) c.2149T>G (p.Tyr717Asp) c.2083T>G (p.Tyr695Asp) | |
| 4 | g.15984280A>G | CA356426910 | PROM1 | c.2356T>C (p.Tyr786His) c.*2039T>C (n.*2039T>C) c.2329T>C (p.Tyr777His) c.24T>C c.107T>C c.2122T>C (p.Tyr708His) c.2263T>C (p.Tyr755His) c.2149T>C (p.Tyr717His) c.2083T>C (p.Tyr695His) | |
| 4 | g.15984280A>T | CA356426911 | PROM1 | c.2356T>A (p.Tyr786Asn) c.*2039T>A (n.*2039T>A) c.2329T>A (p.Tyr777Asn) c.24T>A c.107T>A c.2122T>A (p.Tyr708Asn) c.2263T>A (p.Tyr755Asn) c.2149T>A (p.Tyr717Asn) c.2083T>A (p.Tyr695Asn) | |
| 4 | g.15984281G>A | CA438381410 | PROM1 | c.2355C>T (p.Ser785=) c.*2038C>T (n.*2038C>T) c.2328C>T (p.Ser776=) c.23C>T c.106C>T c.2121C>T (p.Ser707=) c.2262C>T (p.Ser754=) c.2148C>T (p.Ser716=) c.2082C>T (p.Ser694=) | |
| 4 | g.15984281G>C | CA356426912 | PROM1 | c.2355C>G (p.Ser785Arg) c.*2038C>G (n.*2038C>G) c.2328C>G (p.Ser776Arg) c.23C>G c.106C>G c.2121C>G (p.Ser707Arg) c.2262C>G (p.Ser754Arg) c.2148C>G (p.Ser716Arg) c.2082C>G (p.Ser694Arg) | |
| 4 | g.15984281G>T | CA356426913 | PROM1 | c.2355C>A (p.Ser785Arg) c.*2038C>A (n.*2038C>A) c.2328C>A (p.Ser776Arg) c.23C>A c.106C>A c.2121C>A (p.Ser707Arg) c.2262C>A (p.Ser754Arg) c.2148C>A (p.Ser716Arg) c.2082C>A (p.Ser694Arg) | gnomAD v4 |
| 4 | g.15984282C>A | CA356426914 | PROM1 | c.2354G>T (p.Ser785Ile) c.*2037G>T (n.*2037G>T) c.2327G>T (p.Ser776Ile) c.22G>T c.105G>T c.2120G>T (p.Ser707Ile) c.2261G>T (p.Ser754Ile) c.2147G>T (p.Ser716Ile) c.2081G>T (p.Ser694Ile) | gnomAD v4 |
| 4 | g.15984282C>G | CA356426915 | PROM1 | c.2354G>C (p.Ser785Thr) c.*2037G>C (n.*2037G>C) c.2327G>C (p.Ser776Thr) c.22G>C c.105G>C c.2120G>C (p.Ser707Thr) c.2261G>C (p.Ser754Thr) c.2147G>C (p.Ser716Thr) c.2081G>C (p.Ser694Thr) | |
| 4 | g.15984282C>T | CA356426916 | PROM1 | c.2354G>A (p.Ser785Asn) c.*2037G>A (n.*2037G>A) c.2327G>A (p.Ser776Asn) c.22G>A c.105G>A c.2120G>A (p.Ser707Asn) c.2261G>A (p.Ser754Asn) c.2147G>A (p.Ser716Asn) c.2081G>A (p.Ser694Asn) | |
| 4 | g.15984283T>A | CA356426919 | PROM1 | c.2353A>T (p.Ser785Cys) c.*2036A>T (n.*2036A>T) c.2326A>T (p.Ser776Cys) c.21A>T c.104A>T c.2119A>T (p.Ser707Cys) c.2260A>T (p.Ser754Cys) c.2146A>T (p.Ser716Cys) c.2080A>T (p.Ser694Cys) | |
| 4 | g.15984283T>C | CA356426918 | PROM1 | c.2353A>G (p.Ser785Gly) c.*2036A>G (n.*2036A>G) c.2326A>G (p.Ser776Gly) c.21A>G c.104A>G c.2119A>G (p.Ser707Gly) c.2260A>G (p.Ser754Gly) c.2146A>G (p.Ser716Gly) c.2080A>G (p.Ser694Gly) | |
| 4 | g.15984283T>G | CA356426917 | PROM1 | c.2353A>C (p.Ser785Arg) c.*2036A>C (n.*2036A>C) c.2326A>C (p.Ser776Arg) c.21A>C c.104A>C c.2119A>C (p.Ser707Arg) c.2260A>C (p.Ser754Arg) c.2146A>C (p.Ser716Arg) c.2080A>C (p.Ser694Arg) | |
| 4 | g.15984284A>C | CA356426920 | PROM1 | c.2352T>G (p.Cys784Trp) c.*2035T>G (n.*2035T>G) c.2325T>G (p.Cys775Trp) c.20T>G c.103T>G c.2118T>G (p.Cys706Trp) c.2259T>G (p.Cys753Trp) c.2145T>G (p.Cys715Trp) c.2079T>G (p.Cys693Trp) | |
| 4 | g.15984284A>G | CA438381412 | PROM1 | c.2352T>C (p.Cys784=) c.*2035T>C (n.*2035T>C) c.2325T>C (p.Cys775=) c.20T>C c.103T>C c.2118T>C (p.Cys706=) c.2259T>C (p.Cys753=) c.2145T>C (p.Cys715=) c.2079T>C (p.Cys693=) | gnomAD v4 |
| 4 | g.15984284A>T | CA356426921 | PROM1 | c.2352T>A (p.Cys784Ter) c.*2035T>A (n.*2035T>A) c.2325T>A (p.Cys775Ter) c.20T>A c.103T>A c.2118T>A (p.Cys706Ter) c.2259T>A (p.Cys753Ter) c.2145T>A (p.Cys715Ter) c.2079T>A (p.Cys693Ter) | |
| 4 | g.15984285C>A | CA356426922 | PROM1 | c.2351G>T (p.Cys784Phe) c.*2034G>T (n.*2034G>T) c.2324G>T (p.Cys775Phe) c.19G>T c.102G>T c.2117G>T (p.Cys706Phe) c.2258G>T (p.Cys753Phe) c.2144G>T (p.Cys715Phe) c.2078G>T (p.Cys693Phe) | gnomAD v4 |
| 4 | g.15984285C>G | CA356426924 | PROM1 | c.2351G>C (p.Cys784Ser) c.*2034G>C (n.*2034G>C) c.2324G>C (p.Cys775Ser) c.19G>C c.102G>C c.2117G>C (p.Cys706Ser) c.2258G>C (p.Cys753Ser) c.2144G>C (p.Cys715Ser) c.2078G>C (p.Cys693Ser) | |
| 4 | g.15984285C>T | CA356426923 | PROM1 | c.2351G>A (p.Cys784Tyr) c.*2034G>A (n.*2034G>A) c.2324G>A (p.Cys775Tyr) c.19G>A c.102G>A c.2117G>A (p.Cys706Tyr) c.2258G>A (p.Cys753Tyr) c.2144G>A (p.Cys715Tyr) c.2078G>A (p.Cys693Tyr) | ClinVar |
| 4 | g.15984286A>C | CA356426925 | PROM1 | c.2350T>G (p.Cys784Gly) c.*2033T>G (n.*2033T>G) c.2323T>G (p.Cys775Gly) c.18T>G c.101T>G c.2116T>G (p.Cys706Gly) c.2257T>G (p.Cys753Gly) c.2143T>G (p.Cys715Gly) c.2077T>G (p.Cys693Gly) | |
| 4 | g.15984286A>G | CA356426926 | PROM1 | c.2350T>C (p.Cys784Arg) c.*2033T>C (n.*2033T>C) c.2323T>C (p.Cys775Arg) c.18T>C c.101T>C c.2116T>C (p.Cys706Arg) c.2257T>C (p.Cys753Arg) c.2143T>C (p.Cys715Arg) c.2077T>C (p.Cys693Arg) |