Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.74421632_74422072del | CA2499226858 | SLC16A2 | c.-6_430+5del | ClinVar dbSNP |
X | g.74421842T>A | CA413655994 | SLC16A2 | c.205T>A (p.Phe69Ile) | |
X | g.74421842T>C | CA413655995 | SLC16A2 | c.205T>C (p.Phe69Leu) | |
X | g.74421842T>G | CA413655993 | SLC16A2 | c.205T>G (p.Phe69Val) | |
X | g.74421843T>A | CA413655998 | SLC16A2 | c.206T>A (p.Phe69Tyr) | |
X | g.74421843T>C | CA413655996 | SLC16A2 | c.206T>C (p.Phe69Ser) | |
X | g.74421843T>G | CA413655997 | SLC16A2 | c.206T>G (p.Phe69Cys) | |
X | g.74421844C>A | CA413655999 | SLC16A2 | c.207C>A (p.Phe69Leu) | gnomAD v4 |
X | g.74421844C= | CA2437472610 | SLC16A2 | c.207C= (p.Phe69=) | |
X | g.74421844C>G | CA413656000 | SLC16A2 | c.207C>G (p.Phe69Leu) | |
X | g.74421844C>T | CA517464375 | SLC16A2 | c.207C>T (p.Phe69=) | dbSNP gnomAD v4 |
X | g.74421847_74421864dup | CA2694114360 | SLC16A2 | c.210_227dup (p.Glu76_Pro77insSerGluArgValHisGlu) | gnomAD v4 |
X | g.74421845G>A | CA413656001 | SLC16A2 | c.208G>A (p.Glu70Lys) | dbSNP |
X | g.74421845G>C | CA413656002 | SLC16A2 | c.208G>C (p.Glu70Gln) | |
X | g.74421845G= | CA2437472611 | SLC16A2 | c.208G= (p.Glu70=) | |
X | g.74421845G>T | CA413656003 | SLC16A2 | c.208G>T (p.Glu70Ter) | |
X | g.74421846A>C | CA413656004 | SLC16A2 | c.209A>C (p.Glu70Ala) | |
X | g.74421846A>G | CA413656005 | SLC16A2 | c.209A>G (p.Glu70Gly) | |
X | g.74421846A>T | CA413656006 | SLC16A2 | c.209A>T (p.Glu70Val) | |
X | g.74421847G>A | CA517464382 | SLC16A2 | c.210G>A (p.Glu70=) | |
X | g.74421847G>C | CA413656007 | SLC16A2 | c.210G>C (p.Glu70Asp) | |
X | g.74421847G>T | CA413656008 | SLC16A2 | c.210G>T (p.Glu70Asp) | |
X | g.74421848T>A | CA413656010 | SLC16A2 | c.211T>A (p.Ser71Thr) | |
X | g.74421848T>C | CA413656011 | SLC16A2 | c.211T>C (p.Ser71Pro) | |
X | g.74421848T>G | CA413656009 | SLC16A2 | c.211T>G (p.Ser71Ala) | |
X | g.74421849C>A | CA413656012 | SLC16A2 | c.212C>A (p.Ser71Tyr) | gnomAD v4 |
X | g.74421849C>G | CA413656013 | SLC16A2 | c.212C>G (p.Ser71Cys) | |
X | g.74421849C>T | CA413656014 | SLC16A2 | c.212C>T (p.Ser71Phe) | |
X | g.74421850C>A | CA517464387 | SLC16A2 | c.213C>A (p.Ser71=) | |
X | g.74421850C>G | CA517464388 | SLC16A2 | c.213C>G (p.Ser71=) | gnomAD v4 |
X | g.74421850C>T | CA517464389 | SLC16A2 | c.213C>T (p.Ser71=) | gnomAD v4 |
X | g.74421851G>A | CA413656015 | SLC16A2 | c.214G>A (p.Glu72Lys) | dbSNP gnomAD v3 gnomAD v4 |
X | g.74421851G>C | CA413656016 | SLC16A2 | c.214G>C (p.Glu72Gln) | gnomAD v4 |
X | g.74421851G= | CA2437472612 | SLC16A2 | c.214G= (p.Glu72=) | |
X | g.74421851G>T | CA413656017 | SLC16A2 | c.214G>T (p.Glu72Ter) | gnomAD v4 |
X | g.74421852A>C | CA413656018 | SLC16A2 | c.215A>C (p.Glu72Ala) | |
X | g.74421852A>G | CA413656020 | SLC16A2 | c.215A>G (p.Glu72Gly) | |
X | g.74421852A>T | CA413656019 | SLC16A2 | c.215A>T (p.Glu72Val) | |
X | g.74421853G>A | CA517464391 | SLC16A2 | c.216G>A (p.Glu72=) | |
X | g.74421853G>C | CA413656021 | SLC16A2 | c.216G>C (p.Glu72Asp) | dbSNP |
X | g.74421853G= | CA2437472613 | SLC16A2 | c.216G= (p.Glu72=) | |
X | g.74421853G>T | CA413656022 | SLC16A2 | c.216G>T (p.Glu72Asp) | |
X | g.74421854C>A | CA517464392 | SLC16A2 | c.217C>A (p.Arg73=) | gnomAD v4 |
X | g.74421854C= | CA2437472614 | SLC16A2 | c.217C= (p.Arg73=) | |
X | g.74421854C>G | CA413656023 | SLC16A2 | c.217C>G (p.Arg73Gly) | gnomAD v4 |
X | g.74421854C>T | CA413656024 | SLC16A2 | c.217C>T (p.Arg73Trp) | dbSNP gnomAD v4 |
X | g.74421855G>A | CA413656026 | SLC16A2 | c.218G>A (p.Arg73Gln) | gnomAD v4 |
X | g.74421855G>C | CA10454384 | SLC16A2 | c.218G>C (p.Arg73Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74421855G= | CA2437472615 | SLC16A2 | c.218G= (p.Arg73=) | |
X | g.74421855G>T | CA413656025 | SLC16A2 | c.218G>T (p.Arg73Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.74421856G>A | CA517464397 | SLC16A2 | c.219G>A (p.Arg73=) | dbSNP |
X | g.74421856G>C | CA517464398 | SLC16A2 | c.219G>C (p.Arg73=) | |
X | g.74421856G= | CA2437472616 | SLC16A2 | c.219G= (p.Arg73=) | |
X | g.74421856G>T | CA517464399 | SLC16A2 | c.219G>T (p.Arg73=) | |
X | g.74421857G>A | CA413656027 | SLC16A2 | c.220G>A (p.Val74Met) | gnomAD v4 |
X | g.74421857G>C | CA413656028 | SLC16A2 | c.220G>C (p.Val74Leu) | |
X | g.74421857G>T | CA413656029 | SLC16A2 | c.220G>T (p.Val74Leu) | |
X | g.74421858T>A | CA413656030 | SLC16A2 | c.221T>A (p.Val74Glu) | |
X | g.74421858T>C | CA413656031 | SLC16A2 | c.221T>C (p.Val74Ala) | |
X | g.74421858T>G | CA413656032 | SLC16A2 | c.221T>G (p.Val74Gly) | |
X | g.74421859G>A | CA517464404 | SLC16A2 | c.222G>A (p.Val74=) | |
X | g.74421859G>C | CA517464403 | SLC16A2 | c.222G>C (p.Val74=) | |
X | g.74421859G>T | CA517464402 | SLC16A2 | c.222G>T (p.Val74=) | |
X | g.74421860C>A | CA413656033 | SLC16A2 | c.223C>A (p.His75Asn) | |
X | g.74421860C>G | CA413656034 | SLC16A2 | c.223C>G (p.His75Asp) | |
X | g.74421860C>T | CA413656035 | SLC16A2 | c.223C>T (p.His75Tyr) | gnomAD v4 |
X | g.74421861A>C | CA413656036 | SLC16A2 | c.224A>C (p.His75Pro) | gnomAD v4 |
X | g.74421861A>G | CA413656037 | SLC16A2 | c.224A>G (p.His75Arg) | ClinVar dbSNP gnomAD v4 |
X | g.74421861A>T | CA413656038 | SLC16A2 | c.224A>T (p.His75Leu) | |
X | g.74421862C>A | CA413656039 | SLC16A2 | c.225C>A (p.His75Gln) | dbSNP |
X | g.74421862C= | CA2437472617 | SLC16A2 | c.225C= (p.His75=) | |
X | g.74421862C>G | CA413656040 | SLC16A2 | c.225C>G (p.His75Gln) | gnomAD v4 |
X | g.74421862C>T | CA10454385 | SLC16A2 | c.225C>T (p.His75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74421863G>A | CA413656041 | SLC16A2 | c.226G>A (p.Glu76Lys) | |
X | g.74421863G>C | CA413656042 | SLC16A2 | c.226G>C (p.Glu76Gln) | |
X | g.74421863G>T | CA413656043 | SLC16A2 | c.226G>T (p.Glu76Ter) | |
X | g.74421864A>C | CA413656044 | SLC16A2 | c.227A>C (p.Glu76Ala) | |
X | g.74421864A>G | CA413656045 | SLC16A2 | c.227A>G (p.Glu76Gly) | |
X | g.74421864A>T | CA413656046 | SLC16A2 | c.227A>T (p.Glu76Val) | |
X | g.74421865A>C | CA413656047 | SLC16A2 | c.228A>C (p.Glu76Asp) | |
X | g.74421865A>G | CA517464411 | SLC16A2 | c.228A>G (p.Glu76=) | |
X | g.74421865A>T | CA413656048 | SLC16A2 | c.228A>T (p.Glu76Asp) | |
X | g.74421866C>A | CA413656049 | SLC16A2 | c.229C>A (p.Pro77Thr) | |
X | g.74421866C>G | CA413656050 | SLC16A2 | c.229C>G (p.Pro77Ala) | |
X | g.74421866C>T | CA413656051 | SLC16A2 | c.229C>T (p.Pro77Ser) | |
X | g.74421868del | CA2695234496 | SLC16A2 | c.231del (p.Glu78SerfsTer6) | |
X | g.74421867C>A | CA413656052 | SLC16A2 | c.230C>A (p.Pro77His) | |
X | g.74421867C>G | CA413656053 | SLC16A2 | c.230C>G (p.Pro77Arg) | |
X | g.74421867C>T | CA413656054 | SLC16A2 | c.230C>T (p.Pro77Leu) | |
X | g.74421868C>A | CA517464414 | SLC16A2 | c.231C>A (p.Pro77=) | gnomAD v4 |
X | g.74421868C= | CA2437472618 | SLC16A2 | c.231C= (p.Pro77=) | |
X | g.74421868C>G | CA10454386 | SLC16A2 | c.231C>G (p.Pro77=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421868C>T | CA10454387 | SLC16A2 | c.231C>T (p.Pro77=) | dbSNP ExAC |
X | g.74421869G>A | CA413656055 | SLC16A2 | c.232G>A (p.Glu78Lys) | gnomAD v4 COSMIC |
X | g.74421869G>C | CA413656057 | SLC16A2 | c.232G>C (p.Glu78Gln) | |
X | g.74421869G>T | CA413656056 | SLC16A2 | c.232G>T (p.Glu78Ter) | ClinVar |
X | g.74421870A>C | CA413656058 | SLC16A2 | c.233A>C (p.Glu78Ala) | |
X | g.74421870A>G | CA413656060 | SLC16A2 | c.233A>G (p.Glu78Gly) | |
X | g.74421870A>T | CA413656059 | SLC16A2 | c.233A>T (p.Glu78Val) | |
X | g.74421871G>A | CA517464416 | SLC16A2 | c.234G>A (p.Glu78=) | ClinVar gnomAD v4 |
X | g.74421871G>C | CA413656061 | SLC16A2 | c.234G>C (p.Glu78Asp) | |
X | g.74421871G>T | CA413656062 | SLC16A2 | c.234G>T (p.Glu78Asp) | |
X | g.74421872C>A | CA331275949 | SLC16A2 | c.235C>A (p.Pro79Thr) | ClinVar dbSNP |
X | g.74421872C= | CA2437472619 | SLC16A2 | c.235C= (p.Pro79=) | |
X | g.74421872C>G | CA413656063 | SLC16A2 | c.235C>G (p.Pro79Ala) | |
X | g.74421872C>T | CA413656064 | SLC16A2 | c.235C>T (p.Pro79Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.74421873C>A | CA413656065 | SLC16A2 | c.236C>A (p.Pro79His) | |
X | g.74421873C>G | CA413656066 | SLC16A2 | c.236C>G (p.Pro79Arg) | |
X | g.74421873C>T | CA413656067 | SLC16A2 | c.236C>T (p.Pro79Leu) | |
X | g.74421874C>A | CA517464428 | SLC16A2 | c.237C>A (p.Pro79=) | |
X | g.74421874C>G | CA517464426 | SLC16A2 | c.237C>G (p.Pro79=) | |
X | g.74421874C>T | CA517464424 | SLC16A2 | c.237C>T (p.Pro79=) | ClinVar gnomAD v4 |
X | g.74421875_74421878del | CA2579647048 | SLC16A2 | c.238_241del (p.Thr80LeufsTer3) | |
X | g.74421875A>C | CA413656068 | SLC16A2 | c.238A>C (p.Thr80Pro) | |
X | g.74421875A>G | CA413656069 | SLC16A2 | c.238A>G (p.Thr80Ala) | gnomAD v4 |
X | g.74421875A>T | CA413656070 | SLC16A2 | c.238A>T (p.Thr80Ser) | |
X | g.74421876C>A | CA413656071 | SLC16A2 | c.239C>A (p.Thr80Lys) | gnomAD v4 |
X | g.74421876C= | CA2437472621 | SLC16A2 | c.239C= (p.Thr80=) | |
X | g.74421876C>G | CA413656072 | SLC16A2 | c.239C>G (p.Thr80Arg) | dbSNP gnomAD v2 gnomAD v4 |
X | g.74421876C>T | CA208861 | SLC16A2 | c.239C>T (p.Thr80Met) | ClinVar dbSNP gnomAD v4 |
X | g.74421876_74421886delinsCGCCTACGGTA | CA2437472620 | SLC16A2 | c.239_249delinsCGCCTACGGTA (p.Thr80=) | |
X | g.74421877G>A | CA517464453 | SLC16A2 | c.240G>A (p.Thr80=) | |
X | g.74421877G>C | CA517464454 | SLC16A2 | c.240G>C (p.Thr80=) | gnomAD v4 |
X | g.74421877G= | CA2437472622 | SLC16A2 | c.240G= (p.Thr80=) | |
X | g.74421877G>T | CA517464456 | SLC16A2 | c.240G>T (p.Thr80=) | |
X | g.74421877_74421878insAG | CA643005917 | SLC16A2 | c.240_241insAG (p.Pro81SerfsTer4) | gnomAD v2 |
X | g.74421878_74421887del | CA643005916 | SLC16A2 | c.241_250del (p.Pro81ArgfsTer?) | dbSNP gnomAD v2 |
X | g.74421877_74421878insAGA | CA643005918 | SLC16A2 | c.240_241insAGA (p.Thr80_Pro81insArg) | dbSNP gnomAD v2 |
X | g.74421878C>A | CA413656073 | SLC16A2 | c.241C>A (p.Pro81Thr) | dbSNP gnomAD v2 |
X | g.74421878C= | CA2437472623 | SLC16A2 | c.241C= (p.Pro81=) | |
X | g.74421878C>G | CA413656074 | SLC16A2 | c.241C>G (p.Pro81Ala) | |
X | g.74421878C>T | CA413656075 | SLC16A2 | c.241C>T (p.Pro81Ser) | |
X | g.74421879C>A | CA413656076 | SLC16A2 | c.242C>A (p.Pro81His) | |
X | g.74421879C= | CA2437472624 | SLC16A2 | c.242C= (p.Pro81=) | |
X | g.74421879C>G | CA413656077 | SLC16A2 | c.242C>G (p.Pro81Arg) | dbSNP gnomAD v2 |
X | g.74421879C>T | CA413656078 | SLC16A2 | c.242C>T (p.Pro81Leu) | |
X | g.74421880T>A | CA517464460 | SLC16A2 | c.243T>A (p.Pro81=) | |
X | g.74421880T>C | CA517464462 | SLC16A2 | c.243T>C (p.Pro81=) | |
X | g.74421880T>G | CA517464463 | SLC16A2 | c.243T>G (p.Pro81=) | dbSNP gnomAD v2 |
X | g.74421880T= | CA2437472625 | SLC16A2 | c.243T= (p.Pro81=) | |
X | g.74421881A>C | CA413656079 | SLC16A2 | c.244A>C (p.Thr82Pro) | |
X | g.74421881A>G | CA413656080 | SLC16A2 | c.244A>G (p.Thr82Ala) | gnomAD v4 |
X | g.74421881A>T | CA413656081 | SLC16A2 | c.244A>T (p.Thr82Ser) | |
X | g.74421882C>A | CA413656083 | SLC16A2 | c.245C>A (p.Thr82Lys) | dbSNP gnomAD v2 gnomAD v4 |
X | g.74421882C= | CA2437472626 | SLC16A2 | c.245C= (p.Thr82=) | |
X | g.74421882C>G | CA413656084 | SLC16A2 | c.245C>G (p.Thr82Arg) | |
X | g.74421882C>T | CA413656082 | SLC16A2 | c.245C>T (p.Thr82Met) | |
X | g.74421883G>A | CA517464469 | SLC16A2 | c.246G>A (p.Thr82=) | |
X | g.74421883G>C | CA517464470 | SLC16A2 | c.246G>C (p.Thr82=) | gnomAD v4 |
X | g.74421883G>T | CA517464471 | SLC16A2 | c.246G>T (p.Thr82=) | gnomAD v4 |
X | g.74421884G>A | CA413656085 | SLC16A2 | c.247G>A (p.Val83Ile) | |
X | g.74421884G>C | CA413656086 | SLC16A2 | c.247G>C (p.Val83Leu) | |
X | g.74421884G>T | CA413656087 | SLC16A2 | c.247G>T (p.Val83Leu) | |
X | g.74421885T>A | CA413656088 | SLC16A2 | c.248T>A (p.Val83Glu) | |
X | g.74421885T>C | CA413656089 | SLC16A2 | c.248T>C (p.Val83Ala) | |
X | g.74421885T>G | CA413656090 | SLC16A2 | c.248T>G (p.Val83Gly) | |
X | g.74421886A= | CA2437472627 | SLC16A2 | c.249A= (p.Val83=) | |
X | g.74421886A>C | CA517464474 | SLC16A2 | c.249A>C (p.Val83=) | |
X | g.74421886A>G | CA10454388 | SLC16A2 | c.249A>G (p.Val83=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
X | g.74421886A>T | CA517464477 | SLC16A2 | c.249A>T (p.Val83=) | |
X | g.74421887G>A | CA331275950 | SLC16A2 | c.250G>A (p.Glu84Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.74421887G>C | CA413656091 | SLC16A2 | c.250G>C (p.Glu84Gln) | |
X | g.74421887G= | CA2437472628 | SLC16A2 | c.250G= (p.Glu84=) | |
X | g.74421887G>T | CA413656092 | SLC16A2 | c.250G>T (p.Glu84Ter) | |
X | g.74421888A>C | CA413656093 | SLC16A2 | c.251A>C (p.Glu84Ala) | |
X | g.74421888A>G | CA413656094 | SLC16A2 | c.251A>G (p.Glu84Gly) | ClinVar |
X | g.74421888A>T | CA413656095 | SLC16A2 | c.251A>T (p.Glu84Val) | |
X | g.74421889G>A | CA517464481 | SLC16A2 | c.252G>A (p.Glu84=) | |
X | g.74421889G>C | CA413656096 | SLC16A2 | c.252G>C (p.Glu84Asp) | dbSNP gnomAD v2 |
X | g.74421889G= | CA2437472629 | SLC16A2 | c.252G= (p.Glu84=) | |
X | g.74421889G>T | CA413656097 | SLC16A2 | c.252G>T (p.Glu84Asp) | dbSNP gnomAD v2 gnomAD v4 |
X | g.74421890A>C | CA413656098 | SLC16A2 | c.253A>C (p.Thr85Pro) | |
X | g.74421890A>G | CA413656099 | SLC16A2 | c.253A>G (p.Thr85Ala) | |
X | g.74421890A>T | CA413656100 | SLC16A2 | c.253A>T (p.Thr85Ser) | |
X | g.74421890_74421891delinsAC | CA2437472630 | SLC16A2 | c.253_254delinsAC (p.Thr85=) | |
X | g.74421891C>A | CA413656101 | SLC16A2 | c.254C>A (p.Thr85Asn) | |
X | g.74421891C>G | CA413656102 | SLC16A2 | c.254C>G (p.Thr85Ser) | |
X | g.74421891C>T | CA413656103 | SLC16A2 | c.254C>T (p.Thr85Ile) | |
X | g.74421893del | CA277060 | SLC16A2 | c.256del (p.Arg86AlafsTer?) | ClinVar dbSNP |
X | g.74421892C>A | CA517464484 | SLC16A2 | c.255C>A (p.Thr85=) c.1C>A | |
X | g.74421892C>G | CA517464485 | SLC16A2 | c.255C>G (p.Thr85=) c.1C>G | |
X | g.74421892C>T | CA517464488 | SLC16A2 | c.255C>T (p.Thr85=) c.1C>T | gnomAD v4 |
X | g.74421893C>A | CA413656104 | SLC16A2 | c.256C>A (p.Arg86Ser) c.2C>A | dbSNP gnomAD v2 |
X | g.74421893C= | CA2437472631 | SLC16A2 | c.256C= (p.Arg86=) c.2C= | |
X | g.74421893C>G | CA413656105 | SLC16A2 | c.256C>G (p.Arg86Gly) c.2C>G | |
X | g.74421893C>T | CA10454389 | SLC16A2 | c.256C>T (p.Arg86Cys) c.2C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421894G>A | CA331275951 | SLC16A2 | c.257G>A (p.Arg86His) c.3G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421894G>C | CA413656106 | SLC16A2 | c.257G>C (p.Arg86Pro) c.3G>C | |
X | g.74421894G= | CA2437472632 | SLC16A2 | c.257G= (p.Arg86=) c.3G= | |
X | g.74421894G>T | CA413656107 | SLC16A2 | c.257G>T (p.Arg86Leu) c.3G>T | |
X | g.74421895C>A | CA517464500 | SLC16A2 | c.258C>A (p.Arg86=) c.4C>A | ClinVar COSMIC |
X | g.74421895C>G | CA517464497 | SLC16A2 | c.258C>G (p.Arg86=) c.4C>G | |
X | g.74421895C>T | CA517464499 | SLC16A2 | c.258C>T (p.Arg86=) c.4C>T | ClinVar gnomAD v4 |
X | g.74421896G>A | CA413656109 | SLC16A2 | c.259G>A (p.Gly87Ser) c.5G>A | |
X | g.74421896G>C | CA10454390 | SLC16A2 | c.259G>C (p.Gly87Arg) c.5G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421896G= | CA2437472633 | SLC16A2 | c.259G= (p.Gly87=) c.5G= | |
X | g.74421896G>T | CA413656108 | SLC16A2 | c.259G>T (p.Gly87Cys) c.5G>T | |
X | g.74421897G>A | CA413656110 | SLC16A2 | c.260G>A (p.Gly87Asp) c.6G>A | gnomAD v4 |
X | g.74421897G>C | CA413656111 | SLC16A2 | c.260G>C (p.Gly87Ala) c.6G>C | |
X | g.74421897G>T | CA413656112 | SLC16A2 | c.260G>T (p.Gly87Val) c.6G>T | |
X | g.74421898C>A | CA517464508 | SLC16A2 | c.261C>A (p.Gly87=) c.7C>A | gnomAD v4 |
X | g.74421898C>G | CA517464509 | SLC16A2 | c.261C>G (p.Gly87=) c.7C>G | |
X | g.74421898C>T | CA517464510 | SLC16A2 | c.261C>T (p.Gly87=) c.7C>T | |
X | g.74421899A= | CA2437472634 | SLC16A2 | c.262A= (p.Thr88=) c.8A= | |
X | g.74421899A>C | CA413656113 | SLC16A2 | c.262A>C (p.Thr88Pro) c.8A>C | |
X | g.74421899A>G | CA10454391 | SLC16A2 | c.262A>G (p.Thr88Ala) c.8A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421899A>T | CA413656114 | SLC16A2 | c.262A>T (p.Thr88Ser) c.8A>T | |
X | g.74421900C>A | CA413656117 | SLC16A2 | c.263C>A (p.Thr88Asn) c.9C>A | |
X | g.74421900C>G | CA413656115 | SLC16A2 | c.263C>G (p.Thr88Ser) c.9C>G | |
X | g.74421900C>T | CA413656116 | SLC16A2 | c.263C>T (p.Thr88Ile) c.9C>T | |
X | g.74421901C>A | CA517464526 | SLC16A2 | c.264C>A (p.Thr88=) c.10C>A | |
X | g.74421901C= | CA2437472635 | SLC16A2 | c.264C= (p.Thr88=) c.10C= | |
X | g.74421901C>G | CA517464528 | SLC16A2 | c.264C>G (p.Thr88=) c.10C>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.74421901C>T | CA517464529 | SLC16A2 | c.264C>T (p.Thr88=) c.10C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421902G>A | CA10454393 | SLC16A2 | c.265G>A (p.Ala89Thr) c.11G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421902G>C | CA10454392 | SLC16A2 | c.265G>C (p.Ala89Pro) c.11G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421902G= | CA2437472636 | SLC16A2 | c.265G= (p.Ala89=) c.11G= | |
X | g.74421902G>T | CA413656118 | SLC16A2 | c.265G>T (p.Ala89Ser) c.11G>T | |
X | g.74421903C>A | CA413656119 | SLC16A2 | c.266C>A (p.Ala89Glu) c.12C>A | dbSNP |
X | g.74421903C= | CA2437472637 | SLC16A2 | c.266C= (p.Ala89=) c.12C= | |
X | g.74421903C>G | CA413656120 | SLC16A2 | c.266C>G (p.Ala89Gly) c.12C>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.74421903C>T | CA413656121 | SLC16A2 | c.266C>T (p.Ala89Val) c.12C>T | gnomAD v4 |
X | g.74421904G>A | CA331275952 | SLC16A2 | c.267G>A (p.Ala89=) c.13G>A | dbSNP gnomAD v4 |
X | g.74421904G>C | CA517464535 | SLC16A2 | c.267G>C (p.Ala89=) c.13G>C | |
X | g.74421904G= | CA2437472638 | SLC16A2 | c.267G= (p.Ala89=) c.13G= | |
X | g.74421904G>T | CA517464536 | SLC16A2 | c.267G>T (p.Ala89=) c.13G>T | |
X | g.74421905C>A | CA413656122 | SLC16A2 | c.268C>A (p.Arg90Ser) c.14C>A | gnomAD v4 |
X | g.74421905C= | CA2437472639 | SLC16A2 | c.268C= (p.Arg90=) c.14C= | |
X | g.74421905C>G | CA413656124 | SLC16A2 | c.268C>G (p.Arg90Gly) c.14C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421905C>T | CA413656123 | SLC16A2 | c.268C>T (p.Arg90Cys) c.14C>T | gnomAD v4 |
X | g.74421906G>A | CA413656125 | SLC16A2 | c.269G>A (p.Arg90His) c.15G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421906G>C | CA413656126 | SLC16A2 | c.269G>C (p.Arg90Pro) c.15G>C | |
X | g.74421906G= | CA2437472640 | SLC16A2 | c.269G= (p.Arg90=) c.15G= | |
X | g.74421906G>T | CA413656127 | SLC16A2 | c.269G>T (p.Arg90Leu) c.15G>T | |
X | g.74421906_74421907delinsAA | CA2740092201 | SLC16A2 | c.269_270delinsAA (p.Arg90Gln) c.15_16delinsAA | ClinVar |
X | g.74421907C>A | CA517464541 | SLC16A2 | c.270C>A (p.Arg90=) c.16C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421907C= | CA2437472641 | SLC16A2 | c.270C= (p.Arg90=) c.16C= | |
X | g.74421907C>G | CA517464542 | SLC16A2 | c.270C>G (p.Arg90=) c.16C>G | |
X | g.74421907C>T | CA517464543 | SLC16A2 | c.270C>T (p.Arg90=) c.16C>T | COSMIC |
X | g.74421908G>A | CA331275953 | SLC16A2 | c.271G>A (p.Gly91Ser) c.17G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421908G>C | CA413656128 | SLC16A2 | c.271G>C (p.Gly91Arg) c.17G>C | |
X | g.74421908G= | CA2437472642 | SLC16A2 | c.271G= (p.Gly91=) c.17G= | |
X | g.74421908G>T | CA413656129 | SLC16A2 | c.271G>T (p.Gly91Cys) c.17G>T | dbSNP gnomAD v2 |
X | g.74421909G>A | CA413656130 | SLC16A2 | c.272G>A (p.Gly91Asp) c.18G>A | dbSNP COSMIC |
X | g.74421909G>C | CA413656131 | SLC16A2 | c.272G>C (p.Gly91Ala) c.18G>C | |
X | g.74421909G= | CA2437472643 | SLC16A2 | c.272G= (p.Gly91=) c.18G= | |
X | g.74421909G>T | CA413656132 | SLC16A2 | c.272G>T (p.Gly91Val) c.18G>T | |
X | g.74421910C>A | CA517464545 | SLC16A2 | c.273C>A (p.Gly91=) c.19C>A | |
X | g.74421910C>G | CA517464547 | SLC16A2 | c.273C>G (p.Gly91=) c.19C>G | gnomAD v4 |
X | g.74421910C>T | CA517464550 | SLC16A2 | c.273C>T (p.Gly91=) c.19C>T | |
X | g.74421911T>A | CA413656133 | SLC16A2 | c.274T>A (p.Phe92Ile) c.20T>A | |
X | g.74421911T>C | CA413656134 | SLC16A2 | c.274T>C (p.Phe92Leu) c.20T>C | |
X | g.74421911T>G | CA413656135 | SLC16A2 | c.274T>G (p.Phe92Val) c.20T>G | |
X | g.74421912T>A | CA413656136 | SLC16A2 | c.275T>A (p.Phe92Tyr) c.21T>A | |
X | g.74421912T>C | CA413656138 | SLC16A2 | c.275T>C (p.Phe92Ser) c.21T>C | |
X | g.74421912T>G | CA413656137 | SLC16A2 | c.275T>G (p.Phe92Cys) c.21T>G | |
X | g.74421913C>A | CA413656139 | SLC16A2 | c.276C>A (p.Phe92Leu) c.22C>A | |
X | g.74421913C>G | CA413656140 | SLC16A2 | c.276C>G (p.Phe92Leu) c.22C>G | |
X | g.74421913C>T | CA517464561 | SLC16A2 | c.276C>T (p.Phe92=) c.22C>T | |
X | g.74421914C>A | CA413656141 | SLC16A2 | c.277C>A (p.Gln93Lys) c.23C>A | |
X | g.74421914C= | CA2437472644 | SLC16A2 | c.277C= (p.Gln93=) c.23C= | |
X | g.74421914C>G | CA413656142 | SLC16A2 | c.277C>G (p.Gln93Glu) c.23C>G | |
X | g.74421914C>T | CA272493 | SLC16A2 | c.277C>T (p.Gln93Ter) c.23C>T | ClinVar dbSNP |
X | g.74421915A= | CA2437472645 | SLC16A2 | c.278A= (p.Gln93=) c.24A= | |
X | g.74421915A>C | CA413656143 | SLC16A2 | c.278A>C (p.Gln93Pro) c.24A>C | |
X | g.74421915A>G | CA413656144 | SLC16A2 | c.278A>G (p.Gln93Arg) c.24A>G | |
X | g.74421915A>T | CA10454394 | SLC16A2 | c.278A>T (p.Gln93Leu) c.24A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74421916G>A | CA517464564 | SLC16A2 | c.279G>A (p.Gln93=) c.25G>A | |
X | g.74421916G>C | CA413656145 | SLC16A2 | c.279G>C (p.Gln93His) c.25G>C | |
X | g.74421916G>T | CA413656146 | SLC16A2 | c.279G>T (p.Gln93His) c.25G>T | |
X | g.74421917C>A | CA413656147 | SLC16A2 | c.280C>A (p.Pro94Thr) c.26C>A | gnomAD v4 |
X | g.74421917C= | CA2437472646 | SLC16A2 | c.280C= (p.Pro94=) c.26C= | |
X | g.74421917C>G | CA413656148 | SLC16A2 | c.280C>G (p.Pro94Ala) c.26C>G | |
X | g.74421917C>T | CA10454395 | SLC16A2 | c.280C>T (p.Pro94Ser) c.26C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74421918C>A | CA413656151 | SLC16A2 | c.281C>A (p.Pro94His) c.27C>A | |
X | g.74421918C>G | CA413656149 | SLC16A2 | c.281C>G (p.Pro94Arg) c.27C>G | |
X | g.74421918C>T | CA413656150 | SLC16A2 | c.281C>T (p.Pro94Leu) c.27C>T | |
X | g.74421919T>A | CA517464568 | SLC16A2 | c.282T>A (p.Pro94=) c.28T>A | |
X | g.74421919T>C | CA517464569 | SLC16A2 | c.282T>C (p.Pro94=) c.28T>C | |
X | g.74421919T>G | CA517464570 | SLC16A2 | c.282T>G (p.Pro94=) c.28T>G | |
X | g.74421920C>A | CA413656152 | SLC16A2 | c.283C>A (p.Pro95Thr) c.29C>A | |
X | g.74421920C>G | CA413656153 | SLC16A2 | c.283C>G (p.Pro95Ala) c.29C>G | |
X | g.74421920C>T | CA413656154 | SLC16A2 | c.283C>T (p.Pro95Ser) c.29C>T | |
X | g.74421922dup | CA2695234497 | SLC16A2 | c.285dup (p.Glu96ArgfsTer24) c.31dup | |
X | g.74421921C>A | CA413656155 | SLC16A2 | c.284C>A (p.Pro95His) c.30C>A | gnomAD v4 |
X | g.74421921C>G | CA413656156 | SLC16A2 | c.284C>G (p.Pro95Arg) c.30C>G | gnomAD v4 |
X | g.74421921C>T | CA413656157 | SLC16A2 | c.284C>T (p.Pro95Leu) c.30C>T | |
X | g.74421922C>A | CA517464575 | SLC16A2 | c.285C>A (p.Pro95=) c.31C>A | dbSNP |
X | g.74421922C= | CA2437472647 | SLC16A2 | c.285C= (p.Pro95=) c.31C= | |
X | g.74421922C>G | CA517464576 | SLC16A2 | c.285C>G (p.Pro95=) c.31C>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.74421922C>T | CA517464577 | SLC16A2 | c.285C>T (p.Pro95=) c.31C>T | |
X | g.74421923G>A | CA413656158 | SLC16A2 | c.286G>A (p.Glu96Lys) c.32G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421923G>C | CA413656159 | SLC16A2 | c.286G>C (p.Glu96Gln) c.32G>C | |
X | g.74421923G= | CA2437472648 | SLC16A2 | c.286G= (p.Glu96=) c.32G= | |
X | g.74421923G>T | CA413656160 | SLC16A2 | c.286G>T (p.Glu96Ter) c.32G>T | |
X | g.74421924A>C | CA413656161 | SLC16A2 | c.287A>C (p.Glu96Ala) c.33A>C | |
X | g.74421924A>G | CA413656162 | SLC16A2 | c.287A>G (p.Glu96Gly) c.33A>G | |
X | g.74421924A>T | CA413656163 | SLC16A2 | c.287A>T (p.Glu96Val) c.33A>T | |
X | g.74421925A>C | CA413656164 | SLC16A2 | c.288A>C (p.Glu96Asp) c.34A>C | |
X | g.74421925A>G | CA517464581 | SLC16A2 | c.288A>G (p.Glu96=) c.34A>G | gnomAD v4 |
X | g.74421925A>T | CA413656165 | SLC16A2 | c.288A>T (p.Glu96Asp) c.34A>T | |
X | g.74421926G>A | CA413656166 | SLC16A2 | c.289G>A (p.Gly97Ser) c.35G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.74421926G>C | CA413656168 | SLC16A2 | c.289G>C (p.Gly97Arg) c.35G>C | |
X | g.74421926G= | CA2437472649 | SLC16A2 | c.289G= (p.Gly97=) c.35G= | |
X | g.74421926G>T | CA413656167 | SLC16A2 | c.289G>T (p.Gly97Cys) c.35G>T | |
X | g.74421927G>A | CA413656169 | SLC16A2 | c.290G>A (p.Gly97Asp) c.36G>A | |
X | g.74421927G>C | CA413656171 | SLC16A2 | c.290G>C (p.Gly97Ala) c.36G>C | |
X | g.74421927G>T | CA413656170 | SLC16A2 | c.290G>T (p.Gly97Val) c.36G>T | |
X | g.74421928T>A | CA517464586 | SLC16A2 | c.291T>A (p.Gly97=) c.37T>A | |
X | g.74421928T>C | CA517464589 | SLC16A2 | c.291T>C (p.Gly97=) c.37T>C | gnomAD v4 |
X | g.74421928T>G | CA517464588 | SLC16A2 | c.291T>G (p.Gly97=) c.37T>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.74421928T= | CA2437472650 | SLC16A2 | c.291T= (p.Gly97=) c.37T= | |
X | g.74421929G>A | CA413656172 | SLC16A2 | c.292G>A (p.Gly98Ser) c.38G>A | |
X | g.74421929G>C | CA413656174 | SLC16A2 | c.292G>C (p.Gly98Arg) c.38G>C | |
X | g.74421929G>T | CA413656173 | SLC16A2 | c.292G>T (p.Gly98Cys) c.38G>T | |
X | g.74421930G>A | CA413656175 | SLC16A2 | c.293G>A (p.Gly98Asp) c.39G>A | |
X | g.74421930G>C | CA413656176 | SLC16A2 | c.293G>C (p.Gly98Ala) c.39G>C | |
X | g.74421930G>T | CA413656177 | SLC16A2 | c.293G>T (p.Gly98Val) c.39G>T | |
X | g.74421931C>A | CA517464591 | SLC16A2 | c.294C>A (p.Gly98=) c.40C>A | |
X | g.74421931C>G | CA517464594 | SLC16A2 | c.294C>G (p.Gly98=) c.40C>G | |
X | g.74421931C>T | CA517464596 | SLC16A2 | c.294C>T (p.Gly98=) c.40C>T | |
X | g.74421932T>A | CA413656178 | SLC16A2 | c.295T>A (p.Phe99Ile) c.41T>A | |
X | g.74421932T>C | CA413656179 | SLC16A2 | c.295T>C (p.Phe99Leu) c.41T>C | |
X | g.74421932T>G | CA413656180 | SLC16A2 | c.295T>G (p.Phe99Val) c.41T>G | |
X | g.74421933T>A | CA413656183 | SLC16A2 | c.296T>A (p.Phe99Tyr) c.42T>A | |
X | g.74421933T>C | CA413656181 | SLC16A2 | c.296T>C (p.Phe99Ser) c.42T>C | |
X | g.74421933T>G | CA413656182 | SLC16A2 | c.296T>G (p.Phe99Cys) c.42T>G | |
X | g.74421934C>A | CA413656184 | SLC16A2 | c.297C>A (p.Phe99Leu) c.43C>A | |
X | g.74421934C>G | CA413656185 | SLC16A2 | c.297C>G (p.Phe99Leu) c.43C>G | |
X | g.74421934C>T | CA517464600 | SLC16A2 | c.297C>T (p.Phe99=) c.43C>T | gnomAD v4 |
X | g.74421935G>A | CA413656186 | SLC16A2 | c.298G>A (p.Gly100Ser) c.44G>A | dbSNP gnomAD v2 |
X | g.74421935G>C | CA413656187 | SLC16A2 | c.298G>C (p.Gly100Arg) c.44G>C | |
X | g.74421935G= | CA2437472651 | SLC16A2 | c.298G= (p.Gly100=) c.44G= | |
X | g.74421935G>T | CA413656188 | SLC16A2 | c.298G>T (p.Gly100Cys) c.44G>T | |
X | g.74421936G>A | CA413656191 | SLC16A2 | c.299G>A (p.Gly100Asp) c.45G>A | |
X | g.74421936G>C | CA413656189 | SLC16A2 | c.299G>C (p.Gly100Ala) c.45G>C | |
X | g.74421936G>T | CA413656190 | SLC16A2 | c.299G>T (p.Gly100Val) c.45G>T | |
X | g.74421937C>A | CA517464603 | SLC16A2 | c.300C>A (p.Gly100=) c.46C>A | gnomAD v4 |
X | g.74421937C>G | CA517464604 | SLC16A2 | c.300C>G (p.Gly100=) c.46C>G | |
X | g.74421937C>T | CA517464605 | SLC16A2 | c.300C>T (p.Gly100=) c.46C>T | |
X | g.74421938T>A | CA413656192 | SLC16A2 | c.301T>A (p.Trp101Arg) c.47T>A | |
X | g.74421938T>C | CA413656193 | SLC16A2 | c.301T>C (p.Trp101Arg) c.47T>C | |
X | g.74421938T>G | CA413656194 | SLC16A2 | c.301T>G (p.Trp101Gly) c.47T>G | |
X | g.74421939G>A | CA413656195 | SLC16A2 | c.302G>A (p.Trp101Ter) c.48G>A | |
X | g.74421939G>C | CA413656196 | SLC16A2 | c.302G>C (p.Trp101Ser) c.48G>C | |
X | g.74421939G>T | CA413656197 | SLC16A2 | c.302G>T (p.Trp101Leu) c.48G>T | |
X | g.74421940G>A | CA413656198 | SLC16A2 | c.303G>A (p.Trp101Ter) c.49G>A | |
X | g.74421940G>C | CA413656199 | SLC16A2 | c.303G>C (p.Trp101Cys) c.49G>C | |
X | g.74421940G>T | CA413656200 | SLC16A2 | c.303G>T (p.Trp101Cys) c.49G>T | |
X | g.74421941G>A | CA413656201 | SLC16A2 | c.304G>A (p.Val102Met) c.50G>A | dbSNP gnomAD v4 |
X | g.74421941G>C | CA413656202 | SLC16A2 | c.304G>C (p.Val102Leu) c.50G>C | |
X | g.74421941G= | CA2437472652 | SLC16A2 | c.304G= (p.Val102=) c.50G= | |
X | g.74421941G>T | CA413656203 | SLC16A2 | c.304G>T (p.Val102Leu) c.50G>T | gnomAD v4 |
X | g.74421942T>A | CA413656204 | SLC16A2 | c.305T>A (p.Val102Glu) c.51T>A | |
X | g.74421942T>C | CA413656205 | SLC16A2 | c.305T>C (p.Val102Ala) c.51T>C | |
X | g.74421942T>G | CA10454396 | SLC16A2 | c.305T>G (p.Val102Gly) c.51T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74421942T= | CA2437472653 | SLC16A2 | c.305T= (p.Val102=) c.51T= |