6 | g.49459415G>A | CA249725 | MMUT | c.52C>T (p.Gln18Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459415G>C | CA364405913 | MMUT | c.52C>G (p.Gln18Glu)
| |
6 | g.49459415G= | CA1627397211 | MMUT | c.52C= (p.Gln18=)
| |
6 | g.49459415G>T | CA364405914 | MMUT | c.52C>A (p.Gln18Lys)
| |
6 | g.49459416C>A | CA364405915 | MMUT | c.51G>T (p.Arg17Ser)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459416C= | CA1627397215 | MMUT | c.51G= (p.Arg17=)
| |
6 | g.49459416C>G | CA364405917 | MMUT | c.51G>C (p.Arg17Ser)
| |
6 | g.49459416C>T | CA450608982 | MMUT | c.51G>A (p.Arg17=)
| ClinVar |
6 | g.49459417C>A | CA364405918 | MMUT | c.50G>T (p.Arg17Met)
| |
6 | g.49459417C= | CA1627397219 | MMUT | c.50G= (p.Arg17=)
| |
6 | g.49459417C>G | CA364405920 | MMUT | c.50G>C (p.Arg17Thr)
| COSMIC |
6 | g.49459417C>T | CA138801257 | MMUT | c.50G>A (p.Arg17Lys)
| dbSNP |
6 | g.49459418T>A | CA364405922 | MMUT | c.49A>T (p.Arg17Trp)
| |
6 | g.49459418T>C | CA364405924 | MMUT | c.49A>G (p.Arg17Gly)
| |
6 | g.49459418T>G | CA450608983 | MMUT | c.49A>C (p.Arg17=)
| |
6 | g.49459419C>A | CA450608986 | MMUT | c.48G>T (p.Leu16=)
| |
6 | g.49459419C>G | CA450608984 | MMUT | c.48G>C (p.Leu16=)
| |
6 | g.49459419C>T | CA450608985 | MMUT | c.48G>A (p.Leu16=)
| |
6 | g.49459420A>C | CA364405927 | MMUT | c.47T>G (p.Leu16Arg)
| |
6 | g.49459420A>G | CA364405925 | MMUT | c.47T>C (p.Leu16Pro)
| gnomAD v4 |
6 | g.49459420A>T | CA364405926 | MMUT | c.47T>A (p.Leu16Gln)
| |
6 | g.49459421G>A | CA450608987 | MMUT | c.46C>T (p.Leu16=)
| gnomAD v4 |
6 | g.49459421G>C | CA3847187 | MMUT | c.46C>G (p.Leu16Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459421G= | CA1627397221 | MMUT | c.46C= (p.Leu16=)
| |
6 | g.49459421G>T | CA364405930 | MMUT | c.46C>A (p.Leu16Met)
| |
6 | g.49459422G>A | CA450608988 | MMUT | c.45C>T (p.Tyr15=)
| dbSNP |
6 | g.49459422G>C | CA364405931 | MMUT | c.45C>G (p.Tyr15Ter)
| gnomAD v4 |
6 | g.49459422G= | CA1627397224 | MMUT | c.45C= (p.Tyr15=)
| |
6 | g.49459422G>T | CA364405933 | MMUT | c.45C>A (p.Tyr15Ter)
| |
6 | g.49459423T>A | CA364405934 | MMUT | c.44A>T (p.Tyr15Phe)
| |
6 | g.49459423T>C | CA364405936 | MMUT | c.44A>G (p.Tyr15Cys)
| |
6 | g.49459423T>G | CA364405937 | MMUT | c.44A>C (p.Tyr15Ser)
| |
6 | g.49459424A= | CA1627397227 | MMUT | c.43T= (p.Tyr15=)
| |
6 | g.49459424A>C | CA364405939 | MMUT | c.43T>G (p.Tyr15Asp)
| |
6 | g.49459424A>G | CA364405941 | MMUT | c.43T>C (p.Tyr15His)
| |
6 | g.49459424A>T | CA364405942 | MMUT | c.43T>A (p.Tyr15Asn)
| dbSNP gnomAD v2 |
6 | g.49459425A= | CA1627397231 | MMUT | c.42T= (p.His14=)
| |
6 | g.49459425A>C | CA364405944 | MMUT | c.42T>G (p.His14Gln)
| |
6 | g.49459425A>G | CA450608989 | MMUT | c.42T>C (p.His14=)
| |
6 | g.49459425A>T | CA364405945 | MMUT | c.42T>A (p.His14Gln)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459426T>A | CA10627106 | MMUT | c.41A>T (p.His14Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459426T>C | CA364405948 | MMUT | c.41A>G (p.His14Arg)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459426T>G | CA364405947 | MMUT | c.41A>C (p.His14Pro)
| |
6 | g.49459426T= | CA1627397237 | MMUT | c.41A= (p.His14=)
| |
6 | g.49459427G>A | CA364405952 | MMUT | c.40C>T (p.His14Tyr)
| ClinVar dbSNP COSMIC |
6 | g.49459427G>C | CA364405951 | MMUT | c.40C>G (p.His14Asp)
| dbSNP |
6 | g.49459427G= | CA1627397247 | MMUT | c.40C= (p.His14=)
| |
6 | g.49459427G>T | CA3847188 | MMUT | c.40C>A (p.His14Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459428A>C | CA450608990 | MMUT | c.39T>G (p.Pro13=)
| gnomAD v4 |
6 | g.49459428A>G | CA450608991 | MMUT | c.39T>C (p.Pro13=)
| |
6 | g.49459428A>T | CA450608992 | MMUT | c.39T>A (p.Pro13=)
| |
6 | g.49459429G>A | CA16043606 | MMUT | c.38C>T (p.Pro13Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459429G>C | CA364405957 | MMUT | c.38C>G (p.Pro13Arg)
| |
6 | g.49459429G= | CA1627397250 | MMUT | c.38C= (p.Pro13=)
| |
6 | g.49459429G>T | CA364405955 | MMUT | c.38C>A (p.Pro13His)
| |
6 | g.49459430G>A | CA3847189 | MMUT | c.37C>T (p.Pro13Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459430G>C | CA364405960 | MMUT | c.37C>G (p.Pro13Ala)
| |
6 | g.49459430G= | CA1627397260 | MMUT | c.37C= (p.Pro13=)
| |
6 | g.49459430G>T | CA364405959 | MMUT | c.37C>A (p.Pro13Thr)
| |
6 | g.49459431T>A | CA450608993 | MMUT | c.36A>T (p.Ser12=)
| |
6 | g.49459431T>C | CA450608994 | MMUT | c.36A>G (p.Ser12=)
| |
6 | g.49459431T>G | CA450608995 | MMUT | c.36A>C (p.Ser12=)
| |
6 | g.49459432G>A | CA3847191 | MMUT | c.35C>T (p.Ser12Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459432G>C | CA3847190 | MMUT | c.35C>G (p.Ser12Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459432G= | CA1627397264 | MMUT | c.35C= (p.Ser12=)
| |
6 | g.49459432G>T | CA364405962 | MMUT | c.35C>A (p.Ser12Ter)
| |
6 | g.49459433A>C | CA364405965 | MMUT | c.34T>G (p.Ser12Ala)
| |
6 | g.49459433A>G | CA364405968 | MMUT | c.34T>C (p.Ser12Pro)
| |
6 | g.49459433A>T | CA364405966 | MMUT | c.34T>A (p.Ser12Thr)
| |
6 | g.49459434A>C | CA450608996 | MMUT | c.33T>G (p.Leu11=)
| |
6 | g.49459434A>G | CA450608997 | MMUT | c.33T>C (p.Leu11=)
| |
6 | g.49459434A>T | CA450608998 | MMUT | c.33T>A (p.Leu11=)
| |
6 | g.49459435A= | CA1627397277 | MMUT | c.32T= (p.Leu11=)
| |
6 | g.49459435A>C | CA364405969 | MMUT | c.32T>G (p.Leu11Arg)
| gnomAD v4 |
6 | g.49459435A>G | CA3847192 | MMUT | c.32T>C (p.Leu11Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459435A>T | CA364405970 | MMUT | c.32T>A (p.Leu11His)
| |
6 | g.49459436G>A | CA364405972 | MMUT | c.31C>T (p.Leu11Phe)
| gnomAD v4 |
6 | g.49459436G>C | CA364405975 | MMUT | c.31C>G (p.Leu11Val)
| |
6 | g.49459436G= | CA1627397283 | MMUT | c.31C= (p.Leu11=)
| |
6 | g.49459436G>T | CA364405974 | MMUT | c.31C>A (p.Leu11Ile)
| |
6 | g.49459437T>A | CA364405979 | MMUT | c.30A>T (p.Leu10Phe)
| |
6 | g.49459437T>C | CA450608999 | MMUT | c.30A>G (p.Leu10=)
| |
6 | g.49459437T>G | CA364405978 | MMUT | c.30A>C (p.Leu10Phe)
| |
6 | g.49459437T= | CA1627397291 | MMUT | c.30A= (p.Leu10=)
| |
6 | g.49459437dup | CA10575889 | MMUT | c.30dup (p.Leu11ThrfsTer?)
| ClinVar dbSNP |
6 | g.49459437_49459438insG | CA2679047398 | MMUT | c.29_30insC (p.Leu10PhefsTer?)
| gnomAD v4 |
6 | g.49459438A>C | CA364405980 | MMUT | c.29T>G (p.Leu10Ter)
| |
6 | g.49459438A>G | CA364405984 | MMUT | c.29T>C (p.Leu10Ser)
| gnomAD v4 |
6 | g.49459438A>T | CA364405982 | MMUT | c.29T>A (p.Leu10Ter)
| |
6 | g.49459444dup | CA567155988 | MMUT | c.29dup (p.Leu10PhefsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459444del | CA645546401 | MMUT | c.29del (p.Leu10TyrfsTer7)
| ClinVar dbSNP gnomAD v4 COSMIC |
6 | g.49459439A>C | CA364405985 | MMUT | c.28T>G (p.Leu10Val)
| |
6 | g.49459439A>G | CA450609000 | MMUT | c.28T>C (p.Leu10=)
| |
6 | g.49459439A>T | CA364405986 | MMUT | c.28T>A (p.Leu10Ile)
| |
6 | g.49459440A>C | CA364405988 | MMUT | c.27T>G (p.Phe9Leu)
| |
6 | g.49459440A>G | CA450609001 | MMUT | c.27T>C (p.Phe9=)
| |
6 | g.49459440A>T | CA364405990 | MMUT | c.27T>A (p.Phe9Leu)
| |
6 | g.49459441A>C | CA364405992 | MMUT | c.26T>G (p.Phe9Cys)
| |
6 | g.49459441A>G | CA364405993 | MMUT | c.26T>C (p.Phe9Ser)
| |
6 | g.49459441A>T | CA364405994 | MMUT | c.26T>A (p.Phe9Tyr)
| |
6 | g.49459442A= | CA1627397306 | MMUT | c.25T= (p.Phe9=)
| |
6 | g.49459442A>C | CA364405997 | MMUT | c.25T>G (p.Phe9Val)
| |
6 | g.49459442A>G | CA364405998 | MMUT | c.25T>C (p.Phe9Leu)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459442A>T | CA364405999 | MMUT | c.25T>A (p.Phe9Ile)
| |
6 | g.49459443A>C | CA450609002 | MMUT | c.24T>G (p.Leu8=)
| |
6 | g.49459443A>G | CA450609003 | MMUT | c.24T>C (p.Leu8=)
| |
6 | g.49459443A>T | CA450609004 | MMUT | c.24T>A (p.Leu8=)
| |
6 | g.49459444A>C | CA364406004 | MMUT | c.23T>G (p.Leu8Arg)
| |
6 | g.49459444A>G | CA364406002 | MMUT | c.23T>C (p.Leu8Pro)
| gnomAD v4 |
6 | g.49459444A>T | CA364406001 | MMUT | c.23T>A (p.Leu8His)
| gnomAD v4 |
6 | g.49459445del | CA2695206704 | MMUT | c.22del (p.Leu8PhefsTer9)
| |
6 | g.49459445G>A | CA364406006 | MMUT | c.22C>T (p.Leu8Phe)
| |
6 | g.49459445G>C | CA364406007 | MMUT | c.22C>G (p.Leu8Val)
| dbSNP gnomAD v4 |
6 | g.49459445G= | CA1627397308 | MMUT | c.22C= (p.Leu8=)
| |
6 | g.49459445G>T | CA364406009 | MMUT | c.22C>A (p.Leu8Ile)
| gnomAD v4 |
6 | g.49459446C>A | CA364406010 | MMUT | c.21G>T (p.Gln7His)
| |
6 | g.49459446C>G | CA364406012 | MMUT | c.21G>C (p.Gln7His)
| |
6 | g.49459446C>T | CA450609005 | MMUT | c.21G>A (p.Gln7=)
| |
6 | g.49459447T>A | CA364406013 | MMUT | c.20A>T (p.Gln7Leu)
| |
6 | g.49459447T>C | CA3847193 | MMUT | c.20A>G (p.Gln7Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459447T>G | CA364406015 | MMUT | c.20A>C (p.Gln7Pro)
| |
6 | g.49459447T= | CA1627397314 | MMUT | c.20A= (p.Gln7=)
| |
6 | g.49459448G>A | CA347859 | MMUT | c.19C>T (p.Gln7Ter)
| ClinVar dbSNP ExAC gnomAD v2 |
6 | g.49459448G>C | CA364406017 | MMUT | c.19C>G (p.Gln7Glu)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459448G= | CA1627397319 | MMUT | c.19C= (p.Gln7=)
| |
6 | g.49459448G>T | CA364406019 | MMUT | c.19C>A (p.Gln7Lys)
| |
6 | g.49459449A= | CA1627397321 | MMUT | c.18T= (p.Asn6=)
| |
6 | g.49459449A>C | CA364406021 | MMUT | c.18T>G (p.Asn6Lys)
| |
6 | g.49459449A>G | CA450609006 | MMUT | c.18T>C (p.Asn6=)
| |
6 | g.49459449A>T | CA3847194 | MMUT | c.18T>A (p.Asn6Lys)
| dbSNP ExAC gnomAD v4 |
6 | g.49459450T>A | CA364406023 | MMUT | c.17A>T (p.Asn6Ile)
| |
6 | g.49459450T>C | CA138801305 | MMUT | c.17A>G (p.Asn6Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459450T>G | CA364406026 | MMUT | c.17A>C (p.Asn6Thr)
| |
6 | g.49459450T= | CA1627397324 | MMUT | c.17A= (p.Asn6=)
| |
6 | g.49459451T>A | CA364406027 | MMUT | c.16A>T (p.Asn6Tyr)
| |
6 | g.49459451T>C | CA364406028 | MMUT | c.16A>G (p.Asn6Asp)
| |
6 | g.49459451T>G | CA364406030 | MMUT | c.16A>C (p.Asn6His)
| |
6 | g.49459451_49459452insA | CA2695206705 | MMUT | c.15_16insT (p.Asn6Ter)
| |
6 | g.49459452C>A | CA364406031 | MMUT | c.15G>T (p.Lys5Asn)
| |
6 | g.49459452C= | CA1627397333 | MMUT | c.15G= (p.Lys5=)
| |
6 | g.49459452C>G | CA364406032 | MMUT | c.15G>C (p.Lys5Asn)
| |
6 | g.49459452C>T | CA235518 | MMUT | c.15G>A (p.Lys5=)
| ClinVar dbSNP |
6 | g.49459453T>A | CA364406034 | MMUT | c.14A>T (p.Lys5Met)
| |
6 | g.49459453T>C | CA364406035 | MMUT | c.14A>G (p.Lys5Arg)
| |
6 | g.49459453T>G | CA364406037 | MMUT | c.14A>C (p.Lys5Thr)
| |
6 | g.49459454del | CA2679047399 | MMUT | c.14del (p.Lys5ArgfsTer12)
| gnomAD v4 |
6 | g.49459454T>A | CA364406043 | MMUT | c.13A>T (p.Lys5Ter)
| |
6 | g.49459454T>C | CA364406040 | MMUT | c.13A>G (p.Lys5Glu)
| gnomAD v4 |
6 | g.49459454T>G | CA364406041 | MMUT | c.13A>C (p.Lys5Gln)
| |
6 | g.49459455A>C | CA450609009 | MMUT | c.12T>G (p.Ala4=)
| |
6 | g.49459455A>G | CA450609008 | MMUT | c.12T>C (p.Ala4=)
| COSMIC |
6 | g.49459455A>T | CA450609007 | MMUT | c.12T>A (p.Ala4=)
| |
6 | g.49459456G>A | CA364406046 | MMUT | c.11C>T (p.Ala4Val)
| |
6 | g.49459456G>C | CA364406047 | MMUT | c.11C>G (p.Ala4Gly)
| |
6 | g.49459456G>T | CA364406049 | MMUT | c.11C>A (p.Ala4Asp)
| gnomAD v4 |
6 | g.49459457C>A | CA364406051 | MMUT | c.10G>T (p.Ala4Ser)
| |
6 | g.49459457C>G | CA364406052 | MMUT | c.10G>C (p.Ala4Pro)
| |
6 | g.49459457C>T | CA364406053 | MMUT | c.10G>A (p.Ala4Thr)
| |
6 | g.49459458T>A | CA364406055 | MMUT | c.9A>T (p.Arg3Ser)
| |
6 | g.49459458T>C | CA450609010 | MMUT | c.9A>G (p.Arg3=)
| |
6 | g.49459458T>G | CA364406056 | MMUT | c.9A>C (p.Arg3Ser)
| |
6 | g.49459459C>A | CA364406057 | MMUT | c.8G>T (p.Arg3Ile)
| |
6 | g.49459459C= | CA1627397338 | MMUT | c.8G= (p.Arg3=)
| |
6 | g.49459459C>G | CA364406058 | MMUT | c.8G>C (p.Arg3Thr)
| |
6 | g.49459459C>T | CA364406060 | MMUT | c.8G>A (p.Arg3Lys)
| dbSNP gnomAD v4 |
6 | g.49459459_49459460delinsCT | CA1627397336 | MMUT | c.7_8delinsAG (p.Arg3=)
| |
6 | g.49459460T>A | CA3847195 | MMUT | c.7A>T (p.Arg3Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459460T>C | CA364406063 | MMUT | c.7A>G (p.Arg3Gly)
| gnomAD v4 |
6 | g.49459460T>G | CA450609011 | MMUT | c.7A>C (p.Arg3=)
| |
6 | g.49459460T= | CA1627397343 | MMUT | c.7A= (p.Arg3=)
| |
6 | g.49459461del | CA235517 | MMUT | c.7del (p.Arg3GlufsTer14)
| ClinVar dbSNP |
6 | g.49459461T>A | CA364406066 | MMUT | c.6A>T (p.Leu2Phe)
| COSMIC |
6 | g.49459461T>C | CA450609012 | MMUT | c.6A>G (p.Leu2=)
| |
6 | g.49459461T>G | CA364406065 | MMUT | c.6A>C (p.Leu2Phe)
| |
6 | g.49459462A>C | CA364406068 | MMUT | c.5T>G (p.Leu2Ter)
| |
6 | g.49459462A>G | CA364406070 | MMUT | c.5T>C (p.Leu2Ser)
| |
6 | g.49459462A>T | CA364406071 | MMUT | c.5T>A (p.Leu2Ter)
| |
6 | g.49459463A>C | CA364406073 | MMUT | c.4T>G (p.Leu2Val)
| |
6 | g.49459463A>G | CA450609013 | MMUT | c.4T>C (p.Leu2=)
| |
6 | g.49459463A>T | CA364406074 | MMUT | c.4T>A (p.Leu2Ile)
| |
6 | g.49459464C>A | CA364406075 | MMUT | c.3G>T (p.Met1Ile)
| |
6 | g.49459464C= | CA1627397351 | MMUT | c.3G= (p.Met1=)
| |
6 | g.49459464C>G | CA364406077 | MMUT | c.3G>C (p.Met1Ile)
| |
6 | g.49459464C>T | CA364406079 | MMUT | c.3G>A (p.Met1Ile)
| dbSNP gnomAD v4 |
6 | g.49459465A= | CA1627397362 | MMUT | c.2T= (p.Met1=)
| |
6 | g.49459465A>C | CA364406081 | MMUT | c.2T>G (p.Met1Arg)
| |
6 | g.49459465A>G | CA10575890 | MMUT | c.2T>C (p.Met1Thr)
| ClinVar dbSNP gnomAD v4 |
6 | g.49459465A>T | CA364406082 | MMUT | c.2T>A (p.Met1Lys)
| |
6 | g.49459466T>A | CA364406085 | MMUT | c.1A>T (p.Met1Leu)
| |
6 | g.49459466T>C | CA364406084 | MMUT | c.1A>G (p.Met1Val)
| |
6 | g.49459466T>G | CA364406083 | MMUT | c.1A>C (p.Met1Leu)
| |
6 | g.49459467G>A | CA3847196 | MMUT | c.-1C>T (n.-1C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459467G= | CA1627397368 | MMUT | c.-1C= (n.-1C=)
| |
6 | g.49459468G>A | CA138801352 | MMUT | c.-2C>T (n.-2C>T)
| dbSNP |
6 | g.49459468G>C | CA3847197 | MMUT | c.-2C>G (n.-2C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459468G= | CA1627397375 | MMUT | c.-2C= (n.-2C=)
| |
6 | g.49459469T>C | CA567155989 | MMUT | c.-3A>G (n.-3A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459469T= | CA1627397380 | MMUT | c.-3A= (n.-3A=)
| |
6 | g.49459470G>T | CA2679047400 | MMUT | c.-4C>A (n.-4C>A)
| gnomAD v4 |
6 | g.49459471G>A | CA138801383 | MMUT | c.-5C>T (n.-5C>T)
| dbSNP gnomAD v4 |
6 | g.49459471G= | CA1627397382 | MMUT | c.-5C= (n.-5C=)
| |
6 | g.49459471G>T | CA2679047401 | MMUT | c.-5C>A (n.-5C>A)
| gnomAD v4 |
6 | g.49459472A= | CA1627397387 | MMUT | c.-6T= (n.-6T=)
| |
6 | g.49459472A>G | CA2770993607 | MMUT | c.-6T>C (n.-6T>C)
| |
6 | g.49459472A>T | CA235516 | MMUT | c.-6T>A (n.-6T>A)
| ClinVar dbSNP |
6 | g.49459473G>A | CA3847198 | MMUT | c.-7C>T (n.-7C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459473G= | CA1627397396 | MMUT | c.-7C= (n.-7C=)
| |
6 | g.49459473G>T | CA567155990 | MMUT | c.-7C>A (n.-7C>A)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459474C>A | CA2679047402 | MMUT | c.-8G>T (n.-8G>T)
| gnomAD v4 |
6 | g.49459475_49459476delinsAT | CA1627397400 | MMUT | c.-10_-9delinsAT (n.-10_-9delinsAT)
| |
6 | g.49459476del | CA3847199 | MMUT | c.-10del (n.-10del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459476T>C | CA3847200 | MMUT | c.-10A>G (n.-10A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459476T>G | CA567155991 | MMUT | c.-10A>C (n.-10A>C)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459476T= | CA1627397408 | MMUT | c.-10A= (n.-10A=)
| |
6 | g.49459477G= | CA1627397411 | MMUT | c.-11C= (n.-11C=)
| |
6 | g.49459477G>T | CA235515 | MMUT | c.-11C>A (n.-11C>A)
| ClinVar dbSNP |
6 | g.49459478G>A | CA567155992 | MMUT | c.-12C>T (n.-12C>T)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459478G= | CA1627397415 | MMUT | c.-12C= (n.-12C=)
| |
6 | g.49459478G>T | CA2679047403 | MMUT | c.-12C>A (n.-12C>A)
| gnomAD v4 |
6 | g.49459479A= | CA1627397422 | MMUT | c.-13T= (n.-13T=)
| |
6 | g.49459479A>G | CA1627397420 | MMUT | c.-13T>C (n.-13T>C)
| dbSNP gnomAD v4 |
6 | g.49459479A>T | CA235514 | MMUT | c.-13T>A (n.-13T>A)
| ClinVar dbSNP |
6 | g.49459480_49459482delinsAAC | CA1627397423 | MMUT | c.-16_-14delinsGTT (n.-16_-14delinsGTT)
| |
6 | g.49459483_49459484del | CA3847201 | MMUT | c.-16_-15del (n.-16_-15del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459482C>A | CA3847202 | MMUT | c.-16G>T (n.-16G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459482C= | CA1627397427 | MMUT | c.-16G= (n.-16G=)
| |
6 | g.49459482C>T | CA16605108 | MMUT | c.-16G>A (n.-16G>A)
| ClinVar dbSNP gnomAD v4 |
6 | g.49459483A= | CA1627397441 | MMUT | c.-17T= (n.-17T=)
| |
6 | g.49459483A>G | CA2679047404 | MMUT | c.-17T>C (n.-17T>C)
| gnomAD v4 |
6 | g.49459483A>T | CA235513 | MMUT | c.-17T>A (n.-17T>A)
| ClinVar dbSNP |
6 | g.49459484C>A | CA1627397450 | MMUT | c.-18G>T (n.-18G>T)
| dbSNP |
6 | g.49459484C= | CA1627397445 | MMUT | c.-18G= (n.-18G=)
| |
6 | g.49459484C>T | CA1627397453 | MMUT | c.-18G>A (n.-18G>A)
| dbSNP gnomAD v4 |
6 | g.49459486del | CA2770993608 | MMUT | c.-18del (n.-18del)
| |
6 | g.49459486C>A | CA2578675234 | MMUT | c.-20G>T (n.-20G>T)
| gnomAD v4 |
6 | g.49459486C>G | CA2679047405 | MMUT | c.-20G>C (n.-20G>C)
| gnomAD v4 |
6 | g.49459487A= | CA1627397456 | MMUT | c.-21T= (n.-21T=)
| |
6 | g.49459487A>G | CA825484550 | MMUT | c.-21T>C (n.-21T>C)
| dbSNP |
6 | g.49459488A= | CA1627397459 | MMUT | c.-22T= (n.-22T=)
| |
6 | g.49459488A>G | CA1627397460 | MMUT | c.-22T>C (n.-22T>C)
| dbSNP |
6 | g.49459489T>A | CA2679047406 | MMUT | c.-23A>T (n.-23A>T)
| dbSNP gnomAD v4 |
6 | g.49459489T>C | CA3847203 | MMUT | c.-23A>G (n.-23A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459489T= | CA1627397470 | MMUT | c.-23A= (n.-23A=)
| |
6 | g.49459489_49459491delinsTAG | CA1627397465 | MMUT | c.-25_-23delinsCTA (n.-25_-23delinsCTA)
| |
6 | g.49459491_49459492del | CA567155993 | MMUT | c.-25_-24del (n.-25_-24del)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459491G>A | CA2578675235 | MMUT | c.-25C>T (n.-25C>T)
| gnomAD v4 |
6 | g.49459491G>C | CA1627397480 | MMUT | c.-25C>G (n.-25C>G)
| dbSNP |
6 | g.49459491G= | CA1627397478 | MMUT | c.-25C= (n.-25C=)
| |
6 | g.49459491G>T | CA2679047407 | MMUT | c.-25C>A (n.-25C>A)
| gnomAD v4 |
6 | g.49459492A>G | CA2711791168 | MMUT | c.-26T>C (n.-26T>C)
| dbSNP |
6 | g.49459493A>T | CA2538256933 | MMUT | c.-27T>A (n.-27T>A)
| |
6 | g.49459494A= | CA1627397483 | MMUT | c.-28T= (n.-28T=)
| |
6 | g.49459494A>G | CA3847204 | MMUT | c.-28T>C (n.-28T>C)
| dbSNP ExAC gnomAD v4 |
6 | g.49459495T>C | CA2679047408 | MMUT | c.-29A>G (n.-29A>G)
| gnomAD v4 |
6 | g.49459495T>G | CA2679047409 | MMUT | c.-29A>C (n.-29A>C)
| gnomAD v4 |
6 | g.49459495dup | CA567155994 | MMUT | c.-29dup (n.-29dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459495_49459496delinsTA | CA1627397487 | MMUT | c.-30_-29delinsTA (n.-30_-29delinsTA)
| |
6 | g.49459496A= | CA1627397491 | MMUT | c.-30T= (n.-30T=)
| |
6 | g.49459496A>G | CA567155995 | MMUT | c.-30T>C (n.-30T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459497dup | CA2568461665 | MMUT | c.-30dup (n.-30dup)
| |
6 | g.49459497del | CA1627397490 | MMUT | c.-30del (n.-30del)
| dbSNP gnomAD v4 |
6 | g.49459498G>A | CA2553134313 | MMUT | c.-32C>T (n.-32C>T)
| |
6 | g.49459498G>T | CA2679047410 | MMUT | c.-32C>A (n.-32C>A)
| gnomAD v4 |
6 | g.49459499A= | CA1627397493 | MMUT | c.-33T= (n.-33T=)
| |
6 | g.49459499_49459500insT | CA235512 | MMUT | c.-34_-33insA (n.-34_-33insA)
| ClinVar dbSNP |
6 | g.49459500A= | CA1627397506 | MMUT | c.-34T= (n.-34T=)
| |
6 | g.49459500A>T | CA235511 | MMUT | c.-34T>A (n.-34T>A)
| ClinVar dbSNP |
6 | g.49459501C>A | CA235510 | MMUT | c.-35G>T (n.-35G>T)
| ClinVar dbSNP gnomAD v4 |
6 | g.49459501C= | CA1627397513 | MMUT | c.-35G= (n.-35G=)
| |
6 | g.49459501C>T | CA2578675236 | MMUT | c.-35G>A (n.-35G>A)
| gnomAD v4 |
6 | g.49459502T>A | CA2679047412 | MMUT | c.-36A>T (n.-36A>T)
| gnomAD v4 |
6 | g.49459502T>C | CA567155996 | MMUT | c.-36A>G (n.-36A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459502T>G | CA2679047411 | MMUT | c.-36A>C (n.-36A>C)
| gnomAD v4 |
6 | g.49459502T= | CA1627397518 | MMUT | c.-36A= (n.-36A=)
| |
6 | g.49459503G>A | CA1088813801 | MMUT | c.-37C>T (n.-37C>T)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459503G= | CA1627397530 | MMUT | c.-37C= (n.-37C=)
| |
6 | g.49459503G>T | CA235509 | MMUT | c.-37C>A (n.-37C>A)
| ClinVar dbSNP |
6 | g.49459505C= | CA1627397533 | MMUT | c.-39G= (n.-39G=)
| |
6 | g.49459505C>T | CA825484589 | MMUT | c.-39G>A (n.-39G>A)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459505_49459506insT | CA235508 | MMUT | c.-39-1_-39insA (n.-39-1_-39insA)
| ClinVar dbSNP |
6 | g.49459506C= | CA1627397541 | MMUT | c.-39-1G= (n.-39-1G=)
| |
6 | g.49459506C>G | CA2679047413 | MMUT | c.-39-1G>C (n.-39-1G>C)
| gnomAD v4 |
6 | g.49459506C>T | CA10575891 | MMUT | c.-39-1G>A (n.-39-1G>A)
| ClinVar dbSNP gnomAD v4 |
6 | g.49459507T>C | CA1139659608 | MMUT | c.-39-2A>G (n.-39-2A>G)
| ClinVar dbSNP gnomAD v4 |
6 | g.49459507T= | CA1627397548 | MMUT | c.-39-2A= (n.-39-2A=)
| |
6 | g.49459507_49459508delinsTA | CA1627397546 | MMUT | c.-39-3_-39-2delinsTA (n.-39-3_-39-2delinsTA)
| |
6 | g.49459507_49459517del | CA2770993610 | MMUT | c.-39-12_-39-2del (n.-39-12_-39-2del)
| |
6 | g.49459508del | CA235507 | MMUT | c.-39-3del (n.-39-3del)
| ClinVar dbSNP |
6 | g.49459508A= | CA1627397562 | MMUT | c.-39-3T= (n.-39-3T=)
| |
6 | g.49459508A>T | CA235506 | MMUT | c.-39-3T>A (n.-39-3T>A)
| ClinVar dbSNP |
6 | g.49459509G>A | CA3847205 | MMUT | c.-39-4C>T (n.-39-4C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459509G>C | CA567155997 | MMUT | c.-39-4C>G (n.-39-4C>G)
| dbSNP gnomAD v2 |
6 | g.49459509G= | CA1627397578 | MMUT | c.-39-4C= (n.-39-4C=)
| |
6 | g.49459509G>T | CA2679047414 | MMUT | c.-39-4C>A (n.-39-4C>A)
| gnomAD v4 |
6 | g.49459509_49459510delinsGA | CA1627397577 | MMUT | c.-39-5_-39-4delinsTC (n.-39-5_-39-4delinsTC)
| |
6 | g.49459510A>G | CA913187010 | MMUT | c.-39-5T>C (n.-39-5T>C)
| gnomAD v4 |
6 | g.49459514del | CA235505 | MMUT | c.-39-5del (n.-39-5del)
| ClinVar dbSNP |
6 | g.49459514A>G | CA2679047415 | MMUT | c.-39-9T>C (n.-39-9T>C)
| gnomAD v4 |
6 | g.49459515G>A | CA2770993611 | MMUT | c.-39-10C>T (n.-39-10C>T)
| |
6 | g.49459515G>C | CA2679047416 | MMUT | c.-39-10C>G (n.-39-10C>G)
| gnomAD v4 |
6 | g.49459515G>T | CA2679047417 | MMUT | c.-39-10C>A (n.-39-10C>A)
| gnomAD v4 |