Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7150497_7152928del | CA658684219 | INSR | c.2030_2267+1del c.2030_2231+2230del c.2108_2345+1del c.2108_2309+2230del | ClinVar |
19 | g.7150499_7152929del | CA916084117 | INSR | c.2031_2267+1del c.2031_2231+2230del c.2109_2345+1del c.2109_2309+2230del | |
19 | g.7152677_7152687del | CA2576595213 | INSR | c.2231+43_2231+53del (n.2231+43_2231+53del) n.2249_2259del c.2309+43_2309+53del (n.2309+43_2309+53del) | |
19 | g.7152675A>G | CA2587924257 | INSR | c.2231+51T>C (n.2231+51T>C) n.2257T>C c.2309+51T>C (n.2309+51T>C) | gnomAD v4 |
19 | g.7152676A>G | CA2587924258 | INSR | c.2231+50T>C (n.2231+50T>C) n.2256T>C c.2309+50T>C (n.2309+50T>C) | gnomAD v4 |
19 | g.7152677C>T | CA2587924259 | INSR | c.2231+49G>A (n.2231+49G>A) n.2255G>A c.2309+49G>A (n.2309+49G>A) | gnomAD v4 |
19 | g.7152678A= | CA2320780976 | INSR | c.2231+48T= (n.2231+48T=) n.2254T= c.2309+48T= (n.2309+48T=) | |
19 | g.7152678A>C | CA2320780975 | INSR | c.2231+48T>G (n.2231+48T>G) n.2254T>G c.2309+48T>G (n.2309+48T>G) | dbSNP |
19 | g.7152678A>T | CA631723708 | INSR | c.2231+48T>A (n.2231+48T>A) n.2254T>A c.2309+48T>A (n.2309+48T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7152679C>G | CA2587924260 | INSR | c.2231+47G>C (n.2231+47G>C) n.2253G>C c.2309+47G>C (n.2309+47G>C) | gnomAD v4 |
19 | g.7152680C>A | CA2587924261 | INSR | c.2231+46G>T (n.2231+46G>T) n.2252G>T c.2309+46G>T (n.2309+46G>T) | gnomAD v4 |
19 | g.7152680C>T | CA2576595215 | INSR | c.2231+46G>A (n.2231+46G>A) n.2252G>A c.2309+46G>A (n.2309+46G>A) | |
19 | g.7152681A= | CA2320780977 | INSR | c.2231+45T= (n.2231+45T=) n.2251T= c.2309+45T= (n.2309+45T=) | |
19 | g.7152682_7152683insTTGGCACCCACTAA | CA2587924262 | INSR | c.2231+45_2231+46insAGTGGGTGCCAATT (n.2231+45_2231+46insAGTGGGTGCCAATT) n.2251_2252insAGTGGGTGCCAATT c.2309+45_2309+46insAGTGGGTGCCAATT (n.2309+45_2309+46insAGTGGGTGCCAATT) | gnomAD v4 |
19 | g.7152682del | CA2576595216 | INSR | c.2231+45del (n.2231+45del) n.2251del c.2309+45del (n.2309+45del) | |
19 | g.7152682A>T | CA2587924263 | INSR | c.2231+44T>A (n.2231+44T>A) n.2250T>A c.2309+44T>A (n.2309+44T>A) | gnomAD v4 |
19 | g.7152683_7152686dup | CA884186727 | INSR | c.2231+41_2231+44dup (n.2231+41_2231+44dup) n.2247_2250dup c.2309+41_2309+44dup (n.2309+41_2309+44dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7152683G>T | CA2576595217 | INSR | c.2231+43C>A (n.2231+43C>A) n.2249C>A c.2309+43C>A (n.2309+43C>A) | gnomAD v4 |
19 | g.7152684C>A | CA2587924264 | INSR | c.2231+42G>T (n.2231+42G>T) n.2248G>T c.2309+42G>T (n.2309+42G>T) | gnomAD v4 |
19 | g.7152685C= | CA2320780978 | INSR | c.2231+41G= (n.2231+41G=) n.2247G= c.2309+41G= (n.2309+41G=) | |
19 | g.7152685C>T | CA9135639 | INSR | c.2231+41G>A (n.2231+41G>A) n.2247G>A c.2309+41G>A (n.2309+41G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7152686A>G | CA2587924265 | INSR | c.2231+40T>C (n.2231+40T>C) n.2246T>C c.2309+40T>C (n.2309+40T>C) | gnomAD v4 |
19 | g.7152687A= | CA2320780979 | INSR | c.2231+39T= (n.2231+39T=) n.2245T= c.2309+39T= (n.2309+39T=) | |
19 | g.7152687A>G | CA631723709 | INSR | c.2231+39T>C (n.2231+39T>C) n.2245T>C c.2309+39T>C (n.2309+39T>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7152688T>A | CA2587924266 | INSR | c.2231+38A>T (n.2231+38A>T) n.2244A>T c.2309+38A>T (n.2309+38A>T) | gnomAD v4 |
19 | g.7152688T>C | CA884186728 | INSR | c.2231+38A>G (n.2231+38A>G) n.2244A>G c.2309+38A>G (n.2309+38A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7152688T= | CA2320780980 | INSR | c.2231+38A= (n.2231+38A=) n.2244A= c.2309+38A= (n.2309+38A=) | |
19 | g.7152689T>C | CA2587924267 | INSR | c.2231+37A>G (n.2231+37A>G) n.2243A>G c.2309+37A>G (n.2309+37A>G) | gnomAD v4 |
19 | g.7152690G>C | CA2320780982 | INSR | c.2231+36C>G (n.2231+36C>G) n.2242C>G c.2309+36C>G (n.2309+36C>G) | dbSNP gnomAD v4 |
19 | g.7152690G= | CA2320780981 | INSR | c.2231+36C= (n.2231+36C=) n.2242C= c.2309+36C= (n.2309+36C=) | |
19 | g.7152690G>T | CA2587924268 | INSR | c.2231+36C>A (n.2231+36C>A) n.2242C>A c.2309+36C>A (n.2309+36C>A) | gnomAD v4 |
19 | g.7152691del | CA2576595218 | INSR | c.2231+36del (n.2231+36del) n.2242del c.2309+36del (n.2309+36del) | |
19 | g.7152691G>A | CA631723758 | INSR | c.2231+35C>T (n.2231+35C>T) n.2241C>T c.2309+35C>T (n.2309+35C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7152691G= | CA2320780983 | INSR | c.2231+35C= (n.2231+35C=) n.2241C= c.2309+35C= (n.2309+35C=) | |
19 | g.7152691G>T | CA2587924269 | INSR | c.2231+35C>A (n.2231+35C>A) n.2241C>A c.2309+35C>A (n.2309+35C>A) | gnomAD v4 |
19 | g.7152692C>A | CA2580607729 | INSR | c.2231+34G>T (n.2231+34G>T) n.2240G>T c.2309+34G>T (n.2309+34G>T) | dbSNP gnomAD v4 |
19 | g.7152692C= | CA2320780984 | INSR | c.2231+34G= (n.2231+34G=) n.2240G= c.2309+34G= (n.2309+34G=) | |
19 | g.7152692C>G | CA2580607728 | INSR | c.2231+34G>C (n.2231+34G>C) n.2240G>C c.2309+34G>C (n.2309+34G>C) | |
19 | g.7152692C>T | CA9135640 | INSR | c.2231+34G>A (n.2231+34G>A) n.2240G>A c.2309+34G>A (n.2309+34G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7152693A>G | CA657051371 | INSR | c.2231+33T>C (n.2231+33T>C) n.2239T>C c.2309+33T>C (n.2309+33T>C) | COSMIC |
19 | g.7152694C>T | CA2587924270 | INSR | c.2231+32G>A (n.2231+32G>A) n.2238G>A c.2309+32G>A (n.2309+32G>A) | gnomAD v4 |
19 | g.7152696del | CA2735472039 | INSR | c.2231+32del (n.2231+32del) n.2238del c.2309+32del (n.2309+32del) | dbSNP |
19 | g.7152697A>G | CA2587924271 | INSR | c.2231+29T>C (n.2231+29T>C) n.2235T>C c.2309+29T>C (n.2309+29T>C) | gnomAD v4 |
19 | g.7152699T>C | CA2576595219 | INSR | c.2231+27A>G (n.2231+27A>G) n.2233A>G c.2309+27A>G (n.2309+27A>G) | gnomAD v4 |
19 | g.7152701del | CA2587924272 | INSR | c.2231+26del (n.2231+26del) n.2232del c.2309+26del (n.2309+26del) | gnomAD v4 |
19 | g.7152700_7152701insGT | CA2587924273 | INSR | c.2231+25_2231+26insAC (n.2231+25_2231+26insAC) n.2231_2232insAC c.2309+25_2309+26insAC (n.2309+25_2309+26insAC) | gnomAD v4 |
19 | g.7152703_7152706del | CA2587924274 | INSR | c.2231+22_2231+25del (n.2231+22_2231+25del) n.2228_2231del c.2309+22_2309+25del (n.2309+22_2309+25del) | gnomAD v4 |
19 | g.7152702G>A | CA9135641 | INSR | c.2231+24C>T (n.2231+24C>T) n.2230C>T c.2309+24C>T (n.2309+24C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.7152702G= | CA2320780985 | INSR | c.2231+24C= (n.2231+24C=) n.2230C= c.2309+24C= (n.2309+24C=) | |
19 | g.7152702G>T | CA2587924275 | INSR | c.2231+24C>A (n.2231+24C>A) n.2230C>A c.2309+24C>A (n.2309+24C>A) | gnomAD v4 |
19 | g.7152703A= | CA2320780986 | INSR | c.2231+23T= (n.2231+23T=) n.2229T= c.2309+23T= (n.2309+23T=) | |
19 | g.7152703A>C | CA2735343397 | INSR | c.2231+23T>G (n.2231+23T>G) n.2229T>G c.2309+23T>G (n.2309+23T>G) | dbSNP |
19 | g.7152703A>T | CA9135642 | INSR | c.2231+23T>A (n.2231+23T>A) n.2229T>A c.2309+23T>A (n.2309+23T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7152704G>A | CA2587924276 | INSR | c.2231+22C>T (n.2231+22C>T) n.2228C>T c.2309+22C>T (n.2309+22C>T) | gnomAD v4 |
19 | g.7152704G>C | CA631723762 | INSR | c.2231+22C>G (n.2231+22C>G) n.2228C>G c.2309+22C>G (n.2309+22C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7152704G= | CA2320780987 | INSR | c.2231+22C= (n.2231+22C=) n.2228C= c.2309+22C= (n.2309+22C=) | |
19 | g.7152704G>T | CA2587924277 | INSR | c.2231+22C>A (n.2231+22C>A) n.2228C>A c.2309+22C>A (n.2309+22C>A) | gnomAD v4 |
19 | g.7152705A>C | CA2587924278 | INSR | c.2231+21T>G (n.2231+21T>G) n.2227T>G c.2309+21T>G (n.2309+21T>G) | gnomAD v4 |
19 | g.7152706G>A | CA2320780989 | INSR | c.2231+20C>T (n.2231+20C>T) n.2226C>T c.2309+20C>T (n.2309+20C>T) | dbSNP |
19 | g.7152706G>C | CA2581366330 | INSR | c.2231+20C>G (n.2231+20C>G) n.2226C>G c.2309+20C>G (n.2309+20C>G) | |
19 | g.7152706G= | CA2320780988 | INSR | c.2231+20C= (n.2231+20C=) n.2226C= c.2309+20C= (n.2309+20C=) | |
19 | g.7152706G>T | CA9135643 | INSR | c.2231+20C>A (n.2231+20C>A) n.2226C>A c.2309+20C>A (n.2309+20C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7152707C= | CA2320780990 | INSR | c.2231+19G= (n.2231+19G=) n.2225G= c.2309+19G= (n.2309+19G=) | |
19 | g.7152707C>T | CA2587924279 | INSR | c.2231+19G>A (n.2231+19G>A) n.2225G>A c.2309+19G>A (n.2309+19G>A) | dbSNP gnomAD v4 |
19 | g.7152707_7152708insAT | CA304843911 | INSR | c.2231+18_2231+19insAT (n.2231+18_2231+19insAT) n.2224_2225insAT c.2309+18_2309+19insAT (n.2309+18_2309+19insAT) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7152708C= | CA2320780991 | INSR | c.2231+18G= (n.2231+18G=) n.2224G= c.2309+18G= (n.2309+18G=) | |
19 | g.7152708C>T | CA9135644 | INSR | c.2231+18G>A (n.2231+18G>A) n.2224G>A c.2309+18G>A (n.2309+18G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7152709C= | CA2320780992 | INSR | c.2231+17G= (n.2231+17G=) n.2223G= c.2309+17G= (n.2309+17G=) | |
19 | g.7152709C>T | CA631723764 | INSR | c.2231+17G>A (n.2231+17G>A) n.2223G>A c.2309+17G>A (n.2309+17G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7152710A>T | CA2576595220 | INSR | c.2231+16T>A (n.2231+16T>A) n.2222T>A c.2309+16T>A (n.2309+16T>A) | |
19 | g.7152711G>C | CA631723765 | INSR | c.2231+15C>G (n.2231+15C>G) n.2221C>G c.2309+15C>G (n.2309+15C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7152711G= | CA2320780993 | INSR | c.2231+15C= (n.2231+15C=) n.2221C= c.2309+15C= (n.2309+15C=) | |
19 | g.7152712C>A | CA2587924280 | INSR | c.2231+14G>T (n.2231+14G>T) n.2220G>T c.2309+14G>T (n.2309+14G>T) | gnomAD v4 |
19 | g.7152712C= | CA2320780994 | INSR | c.2231+14G= (n.2231+14G=) n.2220G= c.2309+14G= (n.2309+14G=) | |
19 | g.7152712C>T | CA9135645 | INSR | c.2231+14G>A (n.2231+14G>A) n.2220G>A c.2309+14G>A (n.2309+14G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7152713G>A | CA2587924281 | INSR | c.2231+13C>T (n.2231+13C>T) n.2219C>T c.2309+13C>T (n.2309+13C>T) | gnomAD v4 |
19 | g.7152715C= | CA2320780995 | INSR | c.2231+11G= (n.2231+11G=) n.2217G= c.2309+11G= (n.2309+11G=) | |
19 | g.7152715C>T | CA631723766 | INSR | c.2231+11G>A (n.2231+11G>A) n.2217G>A c.2309+11G>A (n.2309+11G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7152716A= | CA2320780996 | INSR | c.2231+10T= (n.2231+10T=) n.2216T= c.2309+10T= (n.2309+10T=) | |
19 | g.7152716A>T | CA631723767 | INSR | c.2231+10T>A (n.2231+10T>A) n.2216T>A c.2309+10T>A (n.2309+10T>A) | dbSNP gnomAD v2 |
19 | g.7152717A= | CA2320780997 | INSR | c.2231+9T= (n.2231+9T=) n.2215T= c.2309+9T= (n.2309+9T=) | |
19 | g.7152717A>C | CA2587924282 | INSR | c.2231+9T>G (n.2231+9T>G) n.2215T>G c.2309+9T>G (n.2309+9T>G) | gnomAD v4 |
19 | g.7152717A>G | CA2587924283 | INSR | c.2231+9T>C (n.2231+9T>C) n.2215T>C c.2309+9T>C (n.2309+9T>C) | gnomAD v4 |
19 | g.7152717A>T | CA884186729 | INSR | c.2231+9T>A (n.2231+9T>A) n.2215T>A c.2309+9T>A (n.2309+9T>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7152718G>C | CA2582314375 | INSR | c.2231+8C>G (n.2231+8C>G) n.2214C>G c.2309+8C>G (n.2309+8C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7152718G= | CA2320780998 | INSR | c.2231+8C= (n.2231+8C=) n.2214C= c.2309+8C= (n.2309+8C=) | |
19 | g.7152718G>T | CA631723768 | INSR | c.2231+8C>A (n.2231+8C>A) n.2214C>A c.2309+8C>A (n.2309+8C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7152719T>C | CA2813464069 | INSR | c.2231+7A>G (n.2231+7A>G) n.2213A>G c.2309+7A>G (n.2309+7A>G) | |
19 | g.7152720C>T | CA2587924284 | INSR | c.2231+6G>A (n.2231+6G>A) n.2212G>A c.2309+6G>A (n.2309+6G>A) | gnomAD v4 |
19 | g.7152721del | CA2576595221 | INSR | c.2231+6del (n.2231+6del) n.2212del c.2309+6del (n.2309+6del) | |
19 | g.7152723G>A | CA9135646 | INSR | c.2231+3C>T (n.2231+3C>T) n.2209C>T c.2309+3C>T (n.2309+3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7152723G= | CA2320780999 | INSR | c.2231+3C= (n.2231+3C=) n.2209C= c.2309+3C= (n.2309+3C=) | |
19 | g.7152723G>T | CA2587924285 | INSR | c.2231+3C>A (n.2231+3C>A) n.2209C>A c.2309+3C>A (n.2309+3C>A) | gnomAD v4 |
19 | g.7152724A>C | CA403664282 | INSR | c.2231+2T>G (n.2231+2T>G) n.2208T>G c.2309+2T>G (n.2309+2T>G) | |
19 | g.7152724A>G | CA403664284 | INSR | c.2231+2T>C (n.2231+2T>C) n.2208T>C c.2309+2T>C (n.2309+2T>C) | |
19 | g.7152724A>T | CA403664286 | INSR | c.2231+2T>A (n.2231+2T>A) n.2208T>A c.2309+2T>A (n.2309+2T>A) | |
19 | g.7152725C>A | CA403664289 | INSR | c.2231+1G>T (n.2231+1G>T) n.2207G>T c.2309+1G>T (n.2309+1G>T) | |
19 | g.7152725C>G | CA403664290 | INSR | c.2231+1G>C (n.2231+1G>C) n.2207G>C c.2309+1G>C (n.2309+1G>C) | |
19 | g.7152725C>T | CA403664292 | INSR | c.2231+1G>A (n.2231+1G>A) n.2207G>A c.2309+1G>A (n.2309+1G>A) | |
19 | g.7152726C>A | CA403664293 | INSR | c.2231G>T (p.Arg744Ile) c.2231G>T (p.Arg744Met) n.2206G>T c.2309G>T (p.Arg770Ile) c.2309G>T (p.Arg770Met) | |
19 | g.7152726C>G | CA403664295 | INSR | c.2231G>C (p.Arg744Thr) n.2206G>C c.2309G>C (p.Arg770Thr) | |
19 | g.7152726C>T | CA403664294 | INSR | c.2231G>A (p.Arg744Lys) n.2206G>A c.2309G>A (p.Arg770Lys) | |
19 | g.7152727T>A | CA403664296 | INSR | c.2230A>T (p.Arg744Ter) c.2230A>T (p.Arg744Trp) n.2205A>T c.2308A>T (p.Arg770Ter) c.2308A>T (p.Arg770Trp) | |
19 | g.7152727T>C | CA403664297 | INSR | c.2230A>G (p.Arg744Gly) n.2205A>G c.2308A>G (p.Arg770Gly) | |
19 | g.7152727T>G | CA505195853 | INSR | c.2230A>C (p.Arg744=) n.2205A>C c.2308A>C (p.Arg770=) | gnomAD v4 |
19 | g.7152728G>A | CA505195859 | INSR | c.2229C>T (p.Pro743=) n.2204C>T c.2307C>T (p.Pro769=) | |
19 | g.7152728G>C | CA505195857 | INSR | c.2229C>G (p.Pro743=) n.2204C>G c.2307C>G (p.Pro769=) | |
19 | g.7152728G>T | CA505195861 | INSR | c.2229C>A (p.Pro743=) n.2204C>A c.2307C>A (p.Pro769=) | |
19 | g.7152731del | CA2813464070 | INSR | c.2229del (p.Arg744GlufsTer27) c.2229del (p.Arg744GlyfsTer15) n.2204del c.2307del (p.Arg770GlufsTer27) c.2307del (p.Arg770GlyfsTer15) | |
19 | g.7152729G>A | CA403664298 | INSR | c.2228C>T (p.Pro743Leu) n.2203C>T c.2306C>T (p.Pro769Leu) | |
19 | g.7152729G>C | CA403664299 | INSR | c.2228C>G (p.Pro743Arg) n.2203C>G c.2306C>G (p.Pro769Arg) | |
19 | g.7152729G>T | CA403664300 | INSR | c.2228C>A (p.Pro743His) n.2203C>A c.2306C>A (p.Pro769His) | |
19 | g.7152730G>A | CA403664301 | INSR | c.2227C>T (p.Pro743Ser) n.2202C>T c.2305C>T (p.Pro769Ser) | |
19 | g.7152730G>C | CA403664302 | INSR | c.2227C>G (p.Pro743Ala) n.2202C>G c.2305C>G (p.Pro769Ala) | |
19 | g.7152730G>T | CA403664303 | INSR | c.2227C>A (p.Pro743Thr) n.2202C>A c.2305C>A (p.Pro769Thr) | |
19 | g.7152731G>A | CA505195870 | INSR | c.2226C>T (p.Val742=) n.2201C>T c.2304C>T (p.Val768=) | |
19 | g.7152731G>C | CA505195873 | INSR | c.2226C>G (p.Val742=) n.2201C>G c.2304C>G (p.Val768=) | |
19 | g.7152731G>T | CA505195875 | INSR | c.2226C>A (p.Val742=) n.2201C>A c.2304C>A (p.Val768=) | |
19 | g.7152732A= | CA2320781000 | INSR | c.2225T= (p.Val742=) n.2200T= c.2303T= (p.Val768=) | |
19 | g.7152732A>C | CA403664304 | INSR | c.2225T>G (p.Val742Gly) n.2200T>G c.2303T>G (p.Val768Gly) | |
19 | g.7152732A>G | CA403664305 | INSR | c.2225T>C (p.Val742Ala) n.2200T>C c.2303T>C (p.Val768Ala) | |
19 | g.7152732A>T | CA403664306 | INSR | c.2225T>A (p.Val742Asp) n.2200T>A c.2303T>A (p.Val768Asp) | |
19 | g.7152732_7152733insG | CA304843929 | INSR | c.2224_2225insC (p.Val742AlafsTer15) c.2224_2225insC (p.Val742AlafsTer?) n.2199_2200insC c.2302_2303insC (p.Val768AlafsTer15) c.2302_2303insC (p.Val768AlafsTer?) | dbSNP |
19 | g.7152733C>A | CA403664307 | INSR | c.2224G>T (p.Val742Phe) n.2199G>T c.2302G>T (p.Val768Phe) | |
19 | g.7152733C= | CA2320781001 | INSR | c.2224G= (p.Val742=) n.2199G= c.2302G= (p.Val768=) | |
19 | g.7152733C>G | CA403664308 | INSR | c.2224G>C (p.Val742Leu) n.2199G>C c.2302G>C (p.Val768Leu) | |
19 | g.7152733C>T | CA9135647 | INSR | c.2224G>A (p.Val742Ile) n.2199G>A c.2302G>A (p.Val768Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7152734G>A | CA505195885 | INSR | c.2223C>T (p.Phe741=) n.2198C>T c.2301C>T (p.Phe767=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.7152734G>C | CA403664309 | INSR | c.2223C>G (p.Phe741Leu) n.2198C>G c.2301C>G (p.Phe767Leu) | |
19 | g.7152734G= | CA2320781002 | INSR | c.2223C= (p.Phe741=) n.2198C= c.2301C= (p.Phe767=) | |
19 | g.7152734G>T | CA403664310 | INSR | c.2223C>A (p.Phe741Leu) n.2198C>A c.2301C>A (p.Phe767Leu) | |
19 | g.7152735A>C | CA403664311 | INSR | c.2222T>G (p.Phe741Cys) n.2197T>G c.2300T>G (p.Phe767Cys) | |
19 | g.7152735A>G | CA403664312 | INSR | c.2222T>C (p.Phe741Ser) n.2197T>C c.2300T>C (p.Phe767Ser) | |
19 | g.7152735A>T | CA403664313 | INSR | c.2222T>A (p.Phe741Tyr) n.2197T>A c.2300T>A (p.Phe767Tyr) | |
19 | g.7152738del | CA645607106 | INSR | c.2222del (p.Phe741SerfsTer30) c.2222del (p.Phe741SerfsTer18) n.2197del c.2300del (p.Phe767SerfsTer30) c.2300del (p.Phe767SerfsTer18) | COSMIC COSMIC |
19 | g.7152736A>C | CA403664314 | INSR | c.2221T>G (p.Phe741Val) n.2196T>G c.2299T>G (p.Phe767Val) | |
19 | g.7152736A>G | CA403664315 | INSR | c.2221T>C (p.Phe741Leu) n.2196T>C c.2299T>C (p.Phe767Leu) | |
19 | g.7152736A>T | CA403664316 | INSR | c.2221T>A (p.Phe741Ile) n.2196T>A c.2299T>A (p.Phe767Ile) | |
19 | g.7152737A>C | CA505195895 | INSR | c.2220T>G (p.Val740=) n.2195T>G c.2298T>G (p.Val766=) | |
19 | g.7152737A>G | CA505195897 | INSR | c.2220T>C (p.Val740=) n.2195T>C c.2298T>C (p.Val766=) | |
19 | g.7152737A>T | CA505195899 | INSR | c.2220T>A (p.Val740=) n.2195T>A c.2298T>A (p.Val766=) | |
19 | g.7152738A>C | CA403664317 | INSR | c.2219T>G (p.Val740Gly) n.2194T>G c.2297T>G (p.Val766Gly) | gnomAD v4 |
19 | g.7152738A>G | CA403664318 | INSR | c.2219T>C (p.Val740Ala) n.2194T>C c.2297T>C (p.Val766Ala) | |
19 | g.7152738A>T | CA403664319 | INSR | c.2219T>A (p.Val740Asp) n.2194T>A c.2297T>A (p.Val766Asp) | |
19 | g.7152739C>A | CA403664322 | INSR | c.2218G>T (p.Val740Phe) n.2193G>T c.2296G>T (p.Val766Phe) | |
19 | g.7152739C>G | CA403664320 | INSR | c.2218G>C (p.Val740Leu) n.2193G>C c.2296G>C (p.Val766Leu) | |
19 | g.7152739C>T | CA403664321 | INSR | c.2218G>A (p.Val740Ile) n.2193G>A c.2296G>A (p.Val766Ile) | |
19 | g.7152740C>A | CA505195907 | INSR | c.2217G>T (p.Val739=) n.2192G>T c.2295G>T (p.Val765=) | |
19 | g.7152740C>G | CA505195909 | INSR | c.2217G>C (p.Val739=) n.2192G>C c.2295G>C (p.Val765=) | |
19 | g.7152740C>T | CA505195911 | INSR | c.2217G>A (p.Val739=) n.2192G>A c.2295G>A (p.Val765=) | |
19 | g.7152741A>C | CA403664323 | INSR | c.2216T>G (p.Val739Gly) n.2191T>G c.2294T>G (p.Val765Gly) | |
19 | g.7152741A>G | CA403664324 | INSR | c.2216T>C (p.Val739Ala) n.2191T>C c.2294T>C (p.Val765Ala) | |
19 | g.7152741A>T | CA403664325 | INSR | c.2216T>A (p.Val739Glu) n.2191T>A c.2294T>A (p.Val765Glu) | |
19 | g.7152742C>A | CA403664326 | INSR | c.2215G>T (p.Val739Leu) n.2190G>T c.2293G>T (p.Val765Leu) | |
19 | g.7152742C= | CA2320781003 | INSR | c.2215G= (p.Val739=) n.2190G= c.2293G= (p.Val765=) | |
19 | g.7152742C>G | CA403664327 | INSR | c.2215G>C (p.Val739Leu) n.2190G>C c.2293G>C (p.Val765Leu) | COSMIC |
19 | g.7152742C>T | CA9135648 | INSR | c.2215G>A (p.Val739Met) n.2190G>A c.2293G>A (p.Val765Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7152743G>A | CA505195922 | INSR | c.2214C>T (p.Asn738=) n.2189C>T c.2292C>T (p.Asn764=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7152743G>C | CA403664328 | INSR | c.2214C>G (p.Asn738Lys) n.2189C>G c.2292C>G (p.Asn764Lys) | |
19 | g.7152743G= | CA2320781004 | INSR | c.2214C= (p.Asn738=) n.2189C= c.2292C= (p.Asn764=) | |
19 | g.7152743G>T | CA403664329 | INSR | c.2214C>A (p.Asn738Lys) n.2189C>A c.2292C>A (p.Asn764Lys) | |
19 | g.7152744T>A | CA403664330 | INSR | c.2213A>T (p.Asn738Ile) n.2188A>T c.2291A>T (p.Asn764Ile) | |
19 | g.7152744T>C | CA403664331 | INSR | c.2213A>G (p.Asn738Ser) n.2188A>G c.2291A>G (p.Asn764Ser) | |
19 | g.7152744T>G | CA403664332 | INSR | c.2213A>C (p.Asn738Thr) n.2188A>C c.2291A>C (p.Asn764Thr) | |
19 | g.7152745T>A | CA403664334 | INSR | c.2212A>T (p.Asn738Tyr) n.2187A>T c.2290A>T (p.Asn764Tyr) | |
19 | g.7152745T>C | CA403664335 | INSR | c.2212A>G (p.Asn738Asp) n.2187A>G c.2290A>G (p.Asn764Asp) | |
19 | g.7152745T>G | CA403664333 | INSR | c.2212A>C (p.Asn738His) n.2187A>C c.2290A>C (p.Asn764His) | |
19 | g.7152746G>A | CA505195934 | INSR | c.2211C>T (p.His737=) n.2186C>T c.2289C>T (p.His763=) | gnomAD v4 |
19 | g.7152746G>C | CA403664337 | INSR | c.2211C>G (p.His737Gln) n.2186C>G c.2289C>G (p.His763Gln) | |
19 | g.7152746G>T | CA403664336 | INSR | c.2211C>A (p.His737Gln) n.2186C>A c.2289C>A (p.His763Gln) | |
19 | g.7152747T>A | CA403664338 | INSR | c.2210A>T (p.His737Leu) n.2185A>T c.2288A>T (p.His763Leu) | |
19 | g.7152747T>C | CA403664339 | INSR | c.2210A>G (p.His737Arg) n.2185A>G c.2288A>G (p.His763Arg) | |
19 | g.7152747T>G | CA403664340 | INSR | c.2210A>C (p.His737Pro) n.2185A>C c.2288A>C (p.His763Pro) | |
19 | g.7152748G>A | CA403664341 | INSR | c.2209C>T (p.His737Tyr) n.2184C>T c.2287C>T (p.His763Tyr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7152748G>C | CA403664342 | INSR | c.2209C>G (p.His737Asp) n.2184C>G c.2287C>G (p.His763Asp) | |
19 | g.7152748G= | CA2320781005 | INSR | c.2209C= (p.His737=) n.2184C= c.2287C= (p.His763=) | |
19 | g.7152748G>T | CA403664343 | INSR | c.2209C>A (p.His737Asn) n.2184C>A c.2287C>A (p.His763Asn) | |
19 | g.7152749C>A | CA505195948 | INSR | c.2208G>T (p.Leu736=) n.2183G>T c.2286G>T (p.Leu762=) | |
19 | g.7152749C>G | CA505195946 | INSR | c.2208G>C (p.Leu736=) n.2183G>C c.2286G>C (p.Leu762=) | |
19 | g.7152749C>T | CA505195950 | INSR | c.2208G>A (p.Leu736=) n.2183G>A c.2286G>A (p.Leu762=) | gnomAD v4 |
19 | g.7152750A>C | CA403664344 | INSR | c.2207T>G (p.Leu736Arg) n.2182T>G c.2285T>G (p.Leu762Arg) | |
19 | g.7152750A>G | CA403664346 | INSR | c.2207T>C (p.Leu736Pro) n.2182T>C c.2285T>C (p.Leu762Pro) | |
19 | g.7152750A>T | CA403664345 | INSR | c.2207T>A (p.Leu736Gln) n.2182T>A c.2285T>A (p.Leu762Gln) | |
19 | g.7152751G>A | CA505195958 | INSR | c.2206C>T (p.Leu736=) n.2181C>T c.2284C>T (p.Leu762=) | COSMIC COSMIC |
19 | g.7152751G>C | CA403664347 | INSR | c.2206C>G (p.Leu736Val) n.2181C>G c.2284C>G (p.Leu762Val) | gnomAD v4 |
19 | g.7152751G>T | CA403664348 | INSR | c.2206C>A (p.Leu736Met) n.2181C>A c.2284C>A (p.Leu762Met) | |
19 | g.7152752G>A | CA505195962 | INSR | c.2205C>T (p.Tyr735=) n.2180C>T c.2283C>T (p.Tyr761=) | |
19 | g.7152752G>C | CA403664349 | INSR | c.2205C>G (p.Tyr735Ter) n.2180C>G c.2283C>G (p.Tyr761Ter) | |
19 | g.7152752G>T | CA403664350 | INSR | c.2205C>A (p.Tyr735Ter) n.2180C>A c.2283C>A (p.Tyr761Ter) | |
19 | g.7152753T>A | CA403664351 | INSR | c.2204A>T (p.Tyr735Phe) n.2179A>T c.2282A>T (p.Tyr761Phe) | |
19 | g.7152753T>C | CA403664353 | INSR | c.2204A>G (p.Tyr735Cys) n.2179A>G c.2282A>G (p.Tyr761Cys) | |
19 | g.7152753T>G | CA403664352 | INSR | c.2204A>C (p.Tyr735Ser) n.2179A>C c.2282A>C (p.Tyr761Ser) | |
19 | g.7152754A>C | CA403664354 | INSR | c.2203T>G (p.Tyr735Asp) n.2178T>G c.2281T>G (p.Tyr761Asp) | |
19 | g.7152754A>G | CA403664355 | INSR | c.2203T>C (p.Tyr735His) n.2178T>C c.2281T>C (p.Tyr761His) | |
19 | g.7152754A>T | CA403664356 | INSR | c.2203T>A (p.Tyr735Asn) n.2178T>A c.2281T>A (p.Tyr761Asn) | |
19 | g.7152755A= | CA2320781006 | INSR | c.2202T= (p.Asp734=) n.2177T= c.2280T= (p.Asp760=) | |
19 | g.7152755A>C | CA403664357 | INSR | c.2202T>G (p.Asp734Glu) n.2177T>G c.2280T>G (p.Asp760Glu) | |
19 | g.7152755A>G | CA9135649 | INSR | c.2202T>C (p.Asp734=) n.2177T>C c.2280T>C (p.Asp760=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7152755A>T | CA403664358 | INSR | c.2202T>A (p.Asp734Glu) n.2177T>A c.2280T>A (p.Asp760Glu) | |
19 | g.7152756T>A | CA403664359 | INSR | c.2201A>T (p.Asp734Val) n.2176A>T c.2279A>T (p.Asp760Val) | |
19 | g.7152756T>C | CA403664360 | INSR | c.2201A>G (p.Asp734Gly) n.2176A>G c.2279A>G (p.Asp760Gly) | dbSNP |
19 | g.7152756T>G | CA403664361 | INSR | c.2201A>C (p.Asp734Ala) n.2176A>C c.2279A>C (p.Asp760Ala) | |
19 | g.7152756T= | CA2320781007 | INSR | c.2201A= (p.Asp734=) n.2176A= c.2279A= (p.Asp760=) | |
19 | g.7152757C>A | CA403664362 | INSR | c.2200G>T (p.Asp734Tyr) n.2175G>T c.2278G>T (p.Asp760Tyr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7152757C= | CA2320781008 | INSR | c.2200G= (p.Asp734=) n.2175G= c.2278G= (p.Asp760=) | |
19 | g.7152757C>G | CA403664363 | INSR | c.2200G>C (p.Asp734His) n.2175G>C c.2278G>C (p.Asp760His) | |
19 | g.7152757C>T | CA403664364 | INSR | c.2200G>A (p.Asp734Asn) n.2175G>A c.2278G>A (p.Asp760Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7152758C>A | CA403664365 | INSR | c.2199G>T (p.Glu733Asp) n.2174G>T c.2277G>T (p.Glu759Asp) | |
19 | g.7152758C>G | CA403664366 | INSR | c.2199G>C (p.Glu733Asp) n.2174G>C c.2277G>C (p.Glu759Asp) | |
19 | g.7152758C>T | CA505195980 | INSR | c.2199G>A (p.Glu733=) n.2174G>A c.2277G>A (p.Glu759=) | ClinVar gnomAD v4 |
19 | g.7152759T>A | CA403664367 | INSR | c.2198A>T (p.Glu733Val) n.2173A>T c.2276A>T (p.Glu759Val) | gnomAD v4 |
19 | g.7152759T>C | CA403664368 | INSR | c.2198A>G (p.Glu733Gly) n.2173A>G c.2276A>G (p.Glu759Gly) | |
19 | g.7152759T>G | CA403664369 | INSR | c.2198A>C (p.Glu733Ala) n.2173A>C c.2276A>C (p.Glu759Ala) | |
19 | g.7152760C>A | CA403664370 | INSR | c.2197G>T (p.Glu733Ter) n.2172G>T c.2275G>T (p.Glu759Ter) | |
19 | g.7152760C>G | CA403664371 | INSR | c.2197G>C (p.Glu733Gln) n.2172G>C c.2275G>C (p.Glu759Gln) | |
19 | g.7152760C>T | CA403664372 | INSR | c.2197G>A (p.Glu733Lys) n.2172G>A c.2275G>A (p.Glu759Lys) | |
19 | g.7152761A>C | CA403664373 | INSR | c.2196T>G (p.Phe732Leu) n.2171T>G c.2274T>G (p.Phe758Leu) | |
19 | g.7152761A>G | CA505195993 | INSR | c.2196T>C (p.Phe732=) n.2171T>C c.2274T>C (p.Phe758=) | gnomAD v4 |
19 | g.7152761A>T | CA403664374 | INSR | c.2196T>A (p.Phe732Leu) n.2171T>A c.2274T>A (p.Phe758Leu) | |
19 | g.7152762A= | CA2320781009 | INSR | c.2195T= (p.Phe732=) n.2170T= c.2273T= (p.Phe758=) | |
19 | g.7152762A>C | CA403664375 | INSR | c.2195T>G (p.Phe732Cys) n.2170T>G c.2273T>G (p.Phe758Cys) | |
19 | g.7152762A>G | CA403664376 | INSR | c.2195T>C (p.Phe732Ser) n.2170T>C c.2273T>C (p.Phe758Ser) | dbSNP |
19 | g.7152762A>T | CA403664377 | INSR | c.2195T>A (p.Phe732Tyr) n.2170T>A c.2273T>A (p.Phe758Tyr) | |
19 | g.7152763A= | CA2320781010 | INSR | c.2194T= (p.Phe732=) n.2169T= c.2272T= (p.Phe758=) | |
19 | g.7152763A>C | CA403664378 | INSR | c.2194T>G (p.Phe732Val) n.2169T>G c.2272T>G (p.Phe758Val) | |
19 | g.7152763A>G | CA403664379 | INSR | c.2194T>C (p.Phe732Leu) n.2169T>C c.2272T>C (p.Phe758Leu) | |
19 | g.7152763A>T | CA403664380 | INSR | c.2194T>A (p.Phe732Ile) n.2169T>A c.2272T>A (p.Phe758Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.7152764C>A | CA505196006 | INSR | c.2193G>T (p.Thr731=) n.2168G>T c.2271G>T (p.Thr757=) | |
19 | g.7152764C= | CA2320781011 | INSR | c.2193G= (p.Thr731=) n.2168G= c.2271G= (p.Thr757=) | |
19 | g.7152764C>G | CA505196004 | INSR | c.2193G>C (p.Thr731=) n.2168G>C c.2271G>C (p.Thr757=) | |
19 | g.7152764C>T | CA200660 | INSR | c.2193G>A (p.Thr731=) n.2168G>A c.2271G>A (p.Thr757=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7152764_7152765insCCTT | CA920049458 | INSR | c.2192_2193insAAGG (p.Phe732ArgfsTer3) n.2167_2168insAAGG c.2270_2271insAAGG (p.Phe758ArgfsTer3) | dbSNP |
19 | g.7152765G>A | CA403664381 | INSR | c.2192C>T (p.Thr731Met) n.2167C>T c.2270C>T (p.Thr757Met) | gnomAD v4 COSMIC COSMIC |
19 | g.7152765G>C | CA403664382 | INSR | c.2192C>G (p.Thr731Arg) n.2167C>G c.2270C>G (p.Thr757Arg) | |
19 | g.7152765G>T | CA403664383 | INSR | c.2192C>A (p.Thr731Lys) n.2167C>A c.2270C>A (p.Thr757Lys) | |
19 | g.7152766T>A | CA403664384 | INSR | c.2191A>T (p.Thr731Ser) n.2166A>T c.2269A>T (p.Thr757Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7152766T>C | CA403664385 | INSR | c.2191A>G (p.Thr731Ala) n.2166A>G c.2269A>G (p.Thr757Ala) | |
19 | g.7152766T>G | CA403664386 | INSR | c.2191A>C (p.Thr731Pro) n.2166A>C c.2269A>C (p.Thr757Pro) | |
19 | g.7152766T= | CA2320781012 | INSR | c.2191A= (p.Thr731=) n.2166A= c.2269A= (p.Thr757=) | |
19 | g.7152767C>A | CA403664387 | INSR | c.2190G>T (p.Lys730Asn) n.2165G>T c.2268G>T (p.Lys756Asn) | |
19 | g.7152767C= | CA2320781013 | INSR | c.2190G= (p.Lys730=) n.2165G= c.2268G= (p.Lys756=) | |
19 | g.7152767C>G | CA403664388 | INSR | c.2190G>C (p.Lys730Asn) n.2165G>C c.2268G>C (p.Lys756Asn) | |
19 | g.7152767C>T | CA505196019 | INSR | c.2190G>A (p.Lys730=) n.2165G>A c.2268G>A (p.Lys756=) | dbSNP COSMIC COSMIC |
19 | g.7152768T>A | CA403664389 | INSR | c.2189A>T (p.Lys730Met) n.2164A>T c.2267A>T (p.Lys756Met) | |
19 | g.7152768T>C | CA403664390 | INSR | c.2189A>G (p.Lys730Arg) n.2164A>G c.2267A>G (p.Lys756Arg) | |
19 | g.7152768T>G | CA403664391 | INSR | c.2189A>C (p.Lys730Thr) n.2164A>C c.2267A>C (p.Lys756Thr) | |
19 | g.7152769T>A | CA403664392 | INSR | c.2188A>T (p.Lys730Ter) n.2163A>T c.2266A>T (p.Lys756Ter) | |
19 | g.7152769T>C | CA403664393 | INSR | c.2188A>G (p.Lys730Glu) n.2163A>G c.2266A>G (p.Lys756Glu) | |
19 | g.7152769T>G | CA403664394 | INSR | c.2188A>C (p.Lys730Gln) n.2163A>C c.2266A>C (p.Lys756Gln) | |
19 | g.7152770C>A | CA403664395 | INSR | c.2187G>T (p.Arg729Ser) n.2162G>T c.2265G>T (p.Arg755Ser) | |
19 | g.7152770C>G | CA403664396 | INSR | c.2187G>C (p.Arg729Ser) n.2162G>C c.2265G>C (p.Arg755Ser) | |
19 | g.7152770C>T | CA505196033 | INSR | c.2187G>A (p.Arg729=) n.2162G>A c.2265G>A (p.Arg755=) | |
19 | g.7152771C>A | CA403664397 | INSR | c.2186G>T (p.Arg729Met) n.2161G>T c.2264G>T (p.Arg755Met) | |
19 | g.7152771C>G | CA403664399 | INSR | c.2186G>C (p.Arg729Thr) n.2161G>C c.2264G>C (p.Arg755Thr) | |
19 | g.7152771C>T | CA403664398 | INSR | c.2186G>A (p.Arg729Lys) n.2161G>A c.2264G>A (p.Arg755Lys) | |
19 | g.7152772T>A | CA403664400 | INSR | c.2185A>T (p.Arg729Trp) n.2160A>T c.2263A>T (p.Arg755Trp) | |
19 | g.7152772T>C | CA403664401 | INSR | c.2185A>G (p.Arg729Gly) n.2160A>G c.2263A>G (p.Arg755Gly) | ClinVar dbSNP |
19 | g.7152772T>G | CA505196038 | INSR | c.2185A>C (p.Arg729=) n.2160A>C c.2263A>C (p.Arg755=) | |
19 | g.7152773A= | CA2320781014 | INSR | c.2184T= (p.Phe728=) n.2159T= c.2262T= (p.Phe754=) | |
19 | g.7152773A>C | CA403664402 | INSR | c.2184T>G (p.Phe728Leu) n.2159T>G c.2262T>G (p.Phe754Leu) | |
19 | g.7152773A>G | CA505196044 | INSR | c.2184T>C (p.Phe728=) n.2159T>C c.2262T>C (p.Phe754=) | dbSNP gnomAD v4 |
19 | g.7152773A>T | CA403664403 | INSR | c.2184T>A (p.Phe728Leu) n.2159T>A c.2262T>A (p.Phe754Leu) | |
19 | g.7152774A>C | CA403664404 | INSR | c.2183T>G (p.Phe728Cys) n.2158T>G c.2261T>G (p.Phe754Cys) | |
19 | g.7152774A>G | CA403664405 | INSR | c.2183T>C (p.Phe728Ser) n.2158T>C c.2261T>C (p.Phe754Ser) | |
19 | g.7152774A>T | CA403664406 | INSR | c.2183T>A (p.Phe728Tyr) n.2158T>A c.2261T>A (p.Phe754Tyr) | |
19 | g.7152775A>C | CA403664407 | INSR | c.2182T>G (p.Phe728Val) n.2157T>G c.2260T>G (p.Phe754Val) | |
19 | g.7152775A>G | CA403664409 | INSR | c.2182T>C (p.Phe728Leu) n.2157T>C c.2260T>C (p.Phe754Leu) | |
19 | g.7152775A>T | CA403664408 | INSR | c.2182T>A (p.Phe728Ile) n.2157T>A c.2260T>A (p.Phe754Ile) |