16 | g.84031795_84031808delinsAAGACTCCCCTCAC | CA2238382145 | SLC38A8 | c.632+59_632+72delinsGTGAGGGGAGTCTT (n.632+59_632+72delinsGTGAGGGGAGTCTT)
| |
16 | g.84031806_84031818dup | CA2634582690 | SLC38A8 | c.632+59_632+71dup (n.632+59_632+71dup)
| gnomAD v4 |
16 | g.84031806_84031818del | CA725007630 | SLC38A8 | c.632+59_632+71del (n.632+59_632+71del)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031797G>A | CA725007633 | SLC38A8 | c.632+70C>T (n.632+70C>T)
| dbSNP gnomAD v4 |
16 | g.84031797G>C | CA2634582691 | SLC38A8 | c.632+70C>G (n.632+70C>G)
| gnomAD v4 |
16 | g.84031797G= | CA2238382146 | SLC38A8 | c.632+70C= (n.632+70C=)
| |
16 | g.84031797G>T | CA2634582692 | SLC38A8 | c.632+70C>A (n.632+70C>A)
| gnomAD v4 |
16 | g.84031799C>A | CA285456889 | SLC38A8 | c.632+68G>T (n.632+68G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031799C= | CA2238382147 | SLC38A8 | c.632+68G= (n.632+68G=)
| |
16 | g.84031799C>T | CA979905352 | SLC38A8 | c.632+68G>A (n.632+68G>A)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031800T>A | CA2634582693 | SLC38A8 | c.632+67A>T (n.632+67A>T)
| gnomAD v4 |
16 | g.84031800T>C | CA2634582694 | SLC38A8 | c.632+67A>G (n.632+67A>G)
| gnomAD v4 |
16 | g.84031801C>A | CA2634582696 | SLC38A8 | c.632+66G>T (n.632+66G>T)
| gnomAD v4 |
16 | g.84031801C= | CA2238382148 | SLC38A8 | c.632+66G= (n.632+66G=)
| |
16 | g.84031801C>G | CA2576121092 | SLC38A8 | c.632+66G>C (n.632+66G>C)
| gnomAD v4 |
16 | g.84031801C>T | CA285456893 | SLC38A8 | c.632+66G>A (n.632+66G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031804dup | CA2634582695 | SLC38A8 | c.632+66dup (n.632+66dup)
| gnomAD v4 |
16 | g.84031802C>A | CA2634582697 | SLC38A8 | c.632+65G>T (n.632+65G>T)
| gnomAD v4 |
16 | g.84031802C>T | CA2576121093 | SLC38A8 | c.632+65G>A (n.632+65G>A)
| |
16 | g.84031803C>A | CA2634582698 | SLC38A8 | c.632+64G>T (n.632+64G>T)
| gnomAD v4 |
16 | g.84031804C= | CA2238382149 | SLC38A8 | c.632+63G= (n.632+63G=)
| |
16 | g.84031804C>G | CA2238382150 | SLC38A8 | c.632+63G>C (n.632+63G>C)
| dbSNP gnomAD v4 |
16 | g.84031804C>T | CA979905353 | SLC38A8 | c.632+63G>A (n.632+63G>A)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031805T>A | CA2634582699 | SLC38A8 | c.632+62A>T (n.632+62A>T)
| gnomAD v4 |
16 | g.84031805T>C | CA979905354 | SLC38A8 | c.632+62A>G (n.632+62A>G)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031805T>G | CA2634582700 | SLC38A8 | c.632+62A>C (n.632+62A>C)
| gnomAD v4 |
16 | g.84031805T= | CA2238382151 | SLC38A8 | c.632+62A= (n.632+62A=)
| |
16 | g.84031806C>A | CA2634582701 | SLC38A8 | c.632+61G>T (n.632+61G>T)
| gnomAD v4 |
16 | g.84031806C= | CA2238382152 | SLC38A8 | c.632+61G= (n.632+61G=)
| |
16 | g.84031806C>G | CA2238382153 | SLC38A8 | c.632+61G>C (n.632+61G>C)
| dbSNP |
16 | g.84031806C>T | CA623841681 | SLC38A8 | c.632+61G>A (n.632+61G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031807A>G | CA2576121094 | SLC38A8 | c.632+60T>C (n.632+60T>C)
| dbSNP |
16 | g.84031808C= | CA2238382154 | SLC38A8 | c.632+59G= (n.632+59G=)
| |
16 | g.84031808C>G | CA979905355 | SLC38A8 | c.632+59G>C (n.632+59G>C)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031809A= | CA2238382155 | SLC38A8 | c.632+58T= (n.632+58T=)
| |
16 | g.84031809A>C | CA2238382156 | SLC38A8 | c.632+58T>G (n.632+58T>G)
| dbSNP |
16 | g.84031810G>A | CA285456896 | SLC38A8 | c.632+57C>T (n.632+57C>T)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031810G= | CA2238382157 | SLC38A8 | c.632+57C= (n.632+57C=)
| |
16 | g.84031810G>T | CA2634582702 | SLC38A8 | c.632+57C>A (n.632+57C>A)
| gnomAD v4 |
16 | g.84031811A= | CA2238382158 | SLC38A8 | c.632+56T= (n.632+56T=)
| |
16 | g.84031811A>G | CA725007639 | SLC38A8 | c.632+56T>C (n.632+56T>C)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031812C>A | CA2238382160 | SLC38A8 | c.632+55G>T (n.632+55G>T)
| dbSNP gnomAD v4 |
16 | g.84031812C= | CA2238382159 | SLC38A8 | c.632+55G= (n.632+55G=)
| |
16 | g.84031812C>G | CA285456912 | SLC38A8 | c.632+55G>C (n.632+55G>C)
| dbSNP gnomAD v4 |
16 | g.84031812C>T | CA2238382161 | SLC38A8 | c.632+55G>A (n.632+55G>A)
| dbSNP gnomAD v4 |
16 | g.84031813del | CA2841147236 | SLC38A8 | c.632+54del (n.632+54del)
| |
16 | g.84031813T>C | CA2634582703 | SLC38A8 | c.632+54A>G (n.632+54A>G)
| gnomAD v4 |
16 | g.84031814C>A | CA14254967 | SLC38A8 | c.632+53G>T (n.632+53G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031814C= | CA2238382162 | SLC38A8 | c.632+53G= (n.632+53G=)
| |
16 | g.84031814C>G | CA2634582706 | SLC38A8 | c.632+53G>C (n.632+53G>C)
| gnomAD v4 |
16 | g.84031814C>T | CA2634582707 | SLC38A8 | c.632+53G>A (n.632+53G>A)
| gnomAD v4 |
16 | g.84031817dup | CA2634582704 | SLC38A8 | c.632+53dup (n.632+53dup)
| gnomAD v4 |
16 | g.84031817del | CA2634582705 | SLC38A8 | c.632+53del (n.632+53del)
| gnomAD v4 |
16 | g.84031816C>A | CA2576121095 | SLC38A8 | c.632+51G>T (n.632+51G>T)
| |
16 | g.84031816C>T | CA2634582708 | SLC38A8 | c.632+51G>A (n.632+51G>A)
| gnomAD v4 |
16 | g.84031817C>A | CA2634582709 | SLC38A8 | c.632+50G>T (n.632+50G>T)
| gnomAD v4 |
16 | g.84031817C= | CA2238382163 | SLC38A8 | c.632+50G= (n.632+50G=)
| |
16 | g.84031817C>G | CA623841682 | SLC38A8 | c.632+50G>C (n.632+50G>C)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031817C>T | CA8200135 | SLC38A8 | c.632+50G>A (n.632+50G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031818T>C | CA2238382166 | SLC38A8 | c.632+49A>G (n.632+49A>G)
| dbSNP gnomAD v4 |
16 | g.84031818T>G | CA2634582710 | SLC38A8 | c.632+49A>C (n.632+49A>C)
| gnomAD v4 |
16 | g.84031818T= | CA2238382165 | SLC38A8 | c.632+49A= (n.632+49A=)
| |
16 | g.84031818_84031831delinsTGCCGTGCCTCCCC | CA2238382164 | SLC38A8 | c.632+36_632+49delinsGGGGAGGCACGGCA (n.632+36_632+49delinsGGGGAGGCACGGCA)
| |
16 | g.84031819G>A | CA285456920 | SLC38A8 | c.632+48C>T (n.632+48C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031819G= | CA2238382167 | SLC38A8 | c.632+48C= (n.632+48C=)
| |
16 | g.84031819G>T | CA2576121096 | SLC38A8 | c.632+48C>A (n.632+48C>A)
| gnomAD v4 |
16 | g.84031823_84031835dup | CA8200137 | SLC38A8 | c.632+36_632+48dup (n.632+36_632+48dup)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031823_84031835del | CA8200136 | SLC38A8 | c.632+36_632+48del (n.632+36_632+48del)
| dbSNP ExAC gnomAD v2 |
16 | g.84031820C>A | CA8200138 | SLC38A8 | c.632+47G>T (n.632+47G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031820C= | CA2238382168 | SLC38A8 | c.632+47G= (n.632+47G=)
| |
16 | g.84031820C>T | CA2576121097 | SLC38A8 | c.632+47G>A (n.632+47G>A)
| gnomAD v4 |
16 | g.84031821dup | CA623841683 | SLC38A8 | c.632+47dup (n.632+47dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031821C>A | CA2238382170 | SLC38A8 | c.632+46G>T (n.632+46G>T)
| dbSNP gnomAD v4 |
16 | g.84031821C= | CA2238382169 | SLC38A8 | c.632+46G= (n.632+46G=)
| |
16 | g.84031821C>G | CA725007650 | SLC38A8 | c.632+46G>C (n.632+46G>C)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031821C>T | CA8200140 | SLC38A8 | c.632+46G>A (n.632+46G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031822G>A | CA623841684 | SLC38A8 | c.632+45C>T (n.632+45C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031822G= | CA2238382171 | SLC38A8 | c.632+45C= (n.632+45C=)
| |
16 | g.84031822G>T | CA2838267718 | SLC38A8 | c.632+45C>A (n.632+45C>A)
| |
16 | g.84031822_84031827dup | CA8200139 | SLC38A8 | c.632+40_632+45dup (n.632+40_632+45dup)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031823T>C | CA2732889546 | SLC38A8 | c.632+44A>G (n.632+44A>G)
| dbSNP |
16 | g.84031823T>G | CA2634582711 | SLC38A8 | c.632+44A>C (n.632+44A>C)
| gnomAD v4 |
16 | g.84031824G>A | CA2634582712 | SLC38A8 | c.632+43C>T (n.632+43C>T)
| gnomAD v4 |
16 | g.84031824G>T | CA2576121098 | SLC38A8 | c.632+43C>A (n.632+43C>A)
| gnomAD v4 |
16 | g.84031825C>T | CA2576121099 | SLC38A8 | c.632+42G>A (n.632+42G>A)
| gnomAD v4 |
16 | g.84031826C= | CA2238382172 | SLC38A8 | c.632+41G= (n.632+41G=)
| |
16 | g.84031826C>G | CA2576121100 | SLC38A8 | c.632+41G>C (n.632+41G>C)
| gnomAD v4 |
16 | g.84031826C>T | CA285456940 | SLC38A8 | c.632+41G>A (n.632+41G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031827T>C | CA8200141 | SLC38A8 | c.632+40A>G (n.632+40A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031827T= | CA2238382173 | SLC38A8 | c.632+40A= (n.632+40A=)
| |
16 | g.84031828C>A | CA979905360 | SLC38A8 | c.632+39G>T (n.632+39G>T)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031828C= | CA2238382174 | SLC38A8 | c.632+39G= (n.632+39G=)
| |
16 | g.84031828C>T | CA623841685 | SLC38A8 | c.632+39G>A (n.632+39G>A)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031829C>A | CA2841147237 | SLC38A8 | c.632+38G>T (n.632+38G>T)
| |
16 | g.84031829C= | CA2238382176 | SLC38A8 | c.632+38G= (n.632+38G=)
| |
16 | g.84031829C>G | CA2634582713 | SLC38A8 | c.632+38G>C (n.632+38G>C)
| gnomAD v4 |
16 | g.84031829C>T | CA285456961 | SLC38A8 | c.632+38G>A (n.632+38G>A)
| dbSNP gnomAD v4 |
16 | g.84031829_84031832delinsCCCG | CA2238382175 | SLC38A8 | c.632+35_632+38delinsCGGG (n.632+35_632+38delinsCGGG)
| |
16 | g.84031830C>A | CA2841147238 | SLC38A8 | c.632+37G>T (n.632+37G>T)
| |
16 | g.84031830C= | CA2238382177 | SLC38A8 | c.632+37G= (n.632+37G=)
| |
16 | g.84031830C>T | CA8200143 | SLC38A8 | c.632+37G>A (n.632+37G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031833_84031835del | CA8200142 | SLC38A8 | c.632+35_632+37del (n.632+35_632+37del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031831C>A | CA8200144 | SLC38A8 | c.632+36G>T (n.632+36G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031831C= | CA2238382178 | SLC38A8 | c.632+36G= (n.632+36G=)
| |
16 | g.84031831C>G | CA623841686 | SLC38A8 | c.632+36G>C (n.632+36G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031831C>T | CA8200145 | SLC38A8 | c.632+36G>A (n.632+36G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031832G>A | CA8200147 | SLC38A8 | c.632+35C>T (n.632+35C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031832G= | CA2238382179 | SLC38A8 | c.632+35C= (n.632+35C=)
| |
16 | g.84031832G>T | CA8200146 | SLC38A8 | c.632+35C>A (n.632+35C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031832dup | CA2841147239 | SLC38A8 | c.632+35dup (n.632+35dup)
| |
16 | g.84031833C>A | CA2634582714 | SLC38A8 | c.632+34G>T (n.632+34G>T)
| gnomAD v4 |
16 | g.84031834C>A | CA8200148 | SLC38A8 | c.632+33G>T (n.632+33G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031834C= | CA2238382180 | SLC38A8 | c.632+33G= (n.632+33G=)
| |
16 | g.84031834C>G | CA2634582715 | SLC38A8 | c.632+33G>C (n.632+33G>C)
| gnomAD v4 |
16 | g.84031834C>T | CA8200149 | SLC38A8 | c.632+33G>A (n.632+33G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031835G>A | CA8200150 | SLC38A8 | c.632+32C>T (n.632+32C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031835G>C | CA2634582716 | SLC38A8 | c.632+32C>G (n.632+32C>G)
| gnomAD v4 |
16 | g.84031835G= | CA2238382181 | SLC38A8 | c.632+32C= (n.632+32C=)
| |
16 | g.84031835G>T | CA2576121101 | SLC38A8 | c.632+32C>A (n.632+32C>A)
| |
16 | g.84031836A>C | CA2576121102 | SLC38A8 | c.632+31T>G (n.632+31T>G)
| |
16 | g.84031836A>G | CA2732889548 | SLC38A8 | c.632+31T>C (n.632+31T>C)
| dbSNP |
16 | g.84031837G>A | CA623841687 | SLC38A8 | c.632+30C>T (n.632+30C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031837G>C | CA2634582717 | SLC38A8 | c.632+30C>G (n.632+30C>G)
| gnomAD v4 |
16 | g.84031837G= | CA2238382182 | SLC38A8 | c.632+30C= (n.632+30C=)
| |
16 | g.84031838G>A | CA285456991 | SLC38A8 | c.632+29C>T (n.632+29C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031838G= | CA2238382183 | SLC38A8 | c.632+29C= (n.632+29C=)
| |
16 | g.84031838G>T | CA8200151 | SLC38A8 | c.632+29C>A (n.632+29C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031839C>A | CA2841147240 | SLC38A8 | c.632+28G>T (n.632+28G>T)
| |
16 | g.84031840T>G | CA8200152 | SLC38A8 | c.632+27A>C (n.632+27A>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031840T= | CA2238382184 | SLC38A8 | c.632+27A= (n.632+27A=)
| |
16 | g.84031841G>A | CA8200153 | SLC38A8 | c.632+26C>T (n.632+26C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031841G= | CA2238382185 | SLC38A8 | c.632+26C= (n.632+26C=)
| |
16 | g.84031841G>T | CA8200154 | SLC38A8 | c.632+26C>A (n.632+26C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031842C>A | CA285457030 | SLC38A8 | c.632+25G>T (n.632+25G>T)
| dbSNP gnomAD v4 |
16 | g.84031842C= | CA2238382186 | SLC38A8 | c.632+25G= (n.632+25G=)
| |
16 | g.84031842C>T | CA979905363 | SLC38A8 | c.632+25G>A (n.632+25G>A)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031843C>A | CA2634582718 | SLC38A8 | c.632+24G>T (n.632+24G>T)
| gnomAD v4 |
16 | g.84031843C= | CA2238382187 | SLC38A8 | c.632+24G= (n.632+24G=)
| |
16 | g.84031843C>G | CA623841688 | SLC38A8 | c.632+24G>C (n.632+24G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031843C>T | CA8200155 | SLC38A8 | c.632+24G>A (n.632+24G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031844G>A | CA8200156 | SLC38A8 | c.632+23C>T (n.632+23C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031844G= | CA2238382188 | SLC38A8 | c.632+23C= (n.632+23C=)
| |
16 | g.84031844G>T | CA2634582719 | SLC38A8 | c.632+23C>A (n.632+23C>A)
| gnomAD v4 |
16 | g.84031845G>A | CA623841689 | SLC38A8 | c.632+22C>T (n.632+22C>T)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031845G= | CA2238382189 | SLC38A8 | c.632+22C= (n.632+22C=)
| |
16 | g.84031846A>T | CA2576121103 | SLC38A8 | c.632+21T>A (n.632+21T>A)
| |
16 | g.84031848G>A | CA8200157 | SLC38A8 | c.632+19C>T (n.632+19C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031848G= | CA2238382190 | SLC38A8 | c.632+19C= (n.632+19C=)
| |
16 | g.84031848G>T | CA2634582720 | SLC38A8 | c.632+19C>A (n.632+19C>A)
| gnomAD v4 |
16 | g.84031849C>T | CA2576121104 | SLC38A8 | c.632+18G>A (n.632+18G>A)
| ClinVar gnomAD v4 |
16 | g.84031850T>C | CA2634582721 | SLC38A8 | c.632+17A>G (n.632+17A>G)
| gnomAD v4 |
16 | g.84031851G>A | CA8200159 | SLC38A8 | c.632+16C>T (n.632+16C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031851G>C | CA8200158 | SLC38A8 | c.632+16C>G (n.632+16C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031851G= | CA2238382191 | SLC38A8 | c.632+16C= (n.632+16C=)
| |
16 | g.84031854C>A | CA2697555979 | SLC38A8 | c.632+13G>T (n.632+13G>T)
| ClinVar |
16 | g.84031854C= | CA2238382192 | SLC38A8 | c.632+13G= (n.632+13G=)
| |
16 | g.84031854C>G | CA2739266923 | SLC38A8 | c.632+13G>C (n.632+13G>C)
| ClinVar |
16 | g.84031854C>T | CA623841690 | SLC38A8 | c.632+13G>A (n.632+13G>A)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031855C= | CA2238382193 | SLC38A8 | c.632+12G= (n.632+12G=)
| |
16 | g.84031855C>G | CA979905365 | SLC38A8 | c.632+12G>C (n.632+12G>C)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031855C>T | CA2634582722 | SLC38A8 | c.632+12G>A (n.632+12G>A)
| gnomAD v4 |
16 | g.84031856C= | CA2238382194 | SLC38A8 | c.632+11G= (n.632+11G=)
| |
16 | g.84031856C>G | CA2634582723 | SLC38A8 | c.632+11G>C (n.632+11G>C)
| gnomAD v4 |
16 | g.84031856C>T | CA2238382195 | SLC38A8 | c.632+11G>A (n.632+11G>A)
| dbSNP |
16 | g.84031857T>C | CA2634582724 | SLC38A8 | c.632+10A>G (n.632+10A>G)
| gnomAD v4 |
16 | g.84031859A= | CA2238382196 | SLC38A8 | c.632+8T= (n.632+8T=)
| |
16 | g.84031859A>C | CA2634582725 | SLC38A8 | c.632+8T>G (n.632+8T>G)
| ClinVar gnomAD v4 |
16 | g.84031859A>G | CA623841691 | SLC38A8 | c.632+8T>C (n.632+8T>C)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031860G>A | CA285457053 | SLC38A8 | c.632+7C>T (n.632+7C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031860G>C | CA725007707 | SLC38A8 | c.632+7C>G (n.632+7C>G)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031860G= | CA2238382197 | SLC38A8 | c.632+7C= (n.632+7C=)
| |
16 | g.84031860G>T | CA623841692 | SLC38A8 | c.632+7C>A (n.632+7C>A)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031862C>A | CA623841693 | SLC38A8 | c.632+5G>T (n.632+5G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031862C= | CA2238382198 | SLC38A8 | c.632+5G= (n.632+5G=)
| |
16 | g.84031862C>G | CA2576121105 | SLC38A8 | c.632+5G>C (n.632+5G>C)
| gnomAD v4 |
16 | g.84031862C>T | CA2634582726 | SLC38A8 | c.632+5G>A (n.632+5G>A)
| gnomAD v4 |
16 | g.84031863T>A | CA8200160 | SLC38A8 | c.632+4A>T (n.632+4A>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031863T= | CA2238382199 | SLC38A8 | c.632+4A= (n.632+4A=)
| |
16 | g.84031864T>C | CA8200161 | SLC38A8 | c.632+3A>G (n.632+3A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031864T>G | CA2634582727 | SLC38A8 | c.632+3A>C (n.632+3A>C)
| gnomAD v4 |
16 | g.84031864T= | CA2238382200 | SLC38A8 | c.632+3A= (n.632+3A=)
| |
16 | g.84031865A= | CA2238382202 | SLC38A8 | c.632+2T= (n.632+2T=)
| |
16 | g.84031865A>C | CA396938302 | SLC38A8 | c.632+2T>G (n.632+2T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031865A>G | CA396938298 | SLC38A8 | c.632+2T>C (n.632+2T>C)
| |
16 | g.84031865A>T | CA396938301 | SLC38A8 | c.632+2T>A (n.632+2T>A)
| |
16 | g.84031865_84031866delinsAC | CA2238382201 | SLC38A8 | c.632+1_632+2delinsGT (n.632+1_632+2delinsGT)
| |
16 | g.84031866_84031870del | CA2634582728 | SLC38A8 | c.630_632+2del
| gnomAD v4 |
16 | g.84031866C>A | CA396938305 | SLC38A8 | c.632+1G>T (n.632+1G>T)
| |
16 | g.84031866C= | CA2238382203 | SLC38A8 | c.632+1G= (n.632+1G=)
| |
16 | g.84031866C>G | CA396938306 | SLC38A8 | c.632+1G>C (n.632+1G>C)
| gnomAD v4 |
16 | g.84031866C>T | CA396938307 | SLC38A8 | c.632+1G>A (n.632+1G>A)
| ClinVar dbSNP gnomAD v4 |
16 | g.84031867del | CA8200162 | SLC38A8 | c.632+1del
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031867C>A | CA396938308 | SLC38A8 | c.632G>T (p.Ser211Ile)
| COSMIC |
16 | g.84031867C= | CA2238382204 | SLC38A8 | c.632G= (p.Ser211=)
| |
16 | g.84031867C>G | CA396938309 | SLC38A8 | c.632G>C (p.Ser211Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031867C>T | CA396938310 | SLC38A8 | c.632G>A (p.Ser211Asn)
| gnomAD v4 |
16 | g.84031868T>A | CA396938321 | SLC38A8 | c.631A>T (p.Ser211Cys)
| |
16 | g.84031868T>C | CA396938332 | SLC38A8 | c.631A>G (p.Ser211Gly)
| |
16 | g.84031868T>G | CA396938337 | SLC38A8 | c.631A>C (p.Ser211Arg)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031868T= | CA2238382205 | SLC38A8 | c.631A= (p.Ser211=)
| |
16 | g.84031869C>A | CA496764397 | SLC38A8 | c.630G>T (p.Leu210=)
| |
16 | g.84031869C= | CA2238382206 | SLC38A8 | c.630G= (p.Leu210=)
| |
16 | g.84031869C>G | CA496764398 | SLC38A8 | c.630G>C (p.Leu210=)
| |
16 | g.84031869C>T | CA496764399 | SLC38A8 | c.630G>A (p.Leu210=)
| |
16 | g.84031869dup | CA623841694 | SLC38A8 | c.630dup (p.Ser211GlufsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031870A>C | CA396938344 | SLC38A8 | c.629T>G (p.Leu210Arg)
| |
16 | g.84031870A>G | CA396938351 | SLC38A8 | c.629T>C (p.Leu210Pro)
| |
16 | g.84031870A>T | CA396938353 | SLC38A8 | c.629T>A (p.Leu210Gln)
| |
16 | g.84031870dup | CA2238382207 | SLC38A8 | c.629dup (p.Ser211GlufsTer?)
| dbSNP |
16 | g.84031871G>A | CA496764400 | SLC38A8 | c.628C>T (p.Leu210=)
| |
16 | g.84031871G>C | CA8200163 | SLC38A8 | c.628C>G (p.Leu210Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031871G= | CA2238382208 | SLC38A8 | c.628C= (p.Leu210=)
| |
16 | g.84031871G>T | CA396938358 | SLC38A8 | c.628C>A (p.Leu210Met)
| |
16 | g.84031872T>A | CA496764401 | SLC38A8 | c.627A>T (p.Ser209=)
| |
16 | g.84031872T>C | CA496764402 | SLC38A8 | c.627A>G (p.Ser209=)
| dbSNP |
16 | g.84031872T>G | CA496764403 | SLC38A8 | c.627A>C (p.Ser209=)
| gnomAD v4 |
16 | g.84031872T= | CA2238382209 | SLC38A8 | c.627A= (p.Ser209=)
| |
16 | g.84031873G>A | CA396938364 | SLC38A8 | c.626C>T (p.Ser209Leu)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031873G>C | CA396938365 | SLC38A8 | c.626C>G (p.Ser209Ter)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031873G= | CA2238382210 | SLC38A8 | c.626C= (p.Ser209=)
| |
16 | g.84031873G>T | CA396938366 | SLC38A8 | c.626C>A (p.Ser209Ter)
| |
16 | g.84031874A>C | CA396938367 | SLC38A8 | c.625T>G (p.Ser209Ala)
| |
16 | g.84031874A>G | CA396938368 | SLC38A8 | c.625T>C (p.Ser209Pro)
| |
16 | g.84031874A>T | CA396938369 | SLC38A8 | c.625T>A (p.Ser209Thr)
| |
16 | g.84031875A>C | CA496764405 | SLC38A8 | c.624T>G (p.Pro208=)
| |
16 | g.84031875A>G | CA496764406 | SLC38A8 | c.624T>C (p.Pro208=)
| ClinVar |
16 | g.84031875A>T | CA496764404 | SLC38A8 | c.624T>A (p.Pro208=)
| |
16 | g.84031876G>A | CA8200164 | SLC38A8 | c.623C>T (p.Pro208Leu)
| dbSNP ExAC gnomAD v2 COSMIC |
16 | g.84031876G>C | CA396938370 | SLC38A8 | c.623C>G (p.Pro208Arg)
| gnomAD v4 |
16 | g.84031876G= | CA2238382211 | SLC38A8 | c.623C= (p.Pro208=)
| |
16 | g.84031876G>T | CA396938371 | SLC38A8 | c.623C>A (p.Pro208His)
| |
16 | g.84031877G>A | CA396938374 | SLC38A8 | c.622C>T (p.Pro208Ser)
| |
16 | g.84031877G>C | CA396938375 | SLC38A8 | c.622C>G (p.Pro208Ala)
| |
16 | g.84031877G>T | CA396938378 | SLC38A8 | c.622C>A (p.Pro208Thr)
| gnomAD v4 |
16 | g.84031878del | CA2634582729 | SLC38A8 | c.621del (p.Pro208LeufsTer3)
| dbSNP gnomAD v4 |
16 | g.84031878A>C | CA396938381 | SLC38A8 | c.621T>G (p.His207Gln)
| |
16 | g.84031878A>G | CA496764407 | SLC38A8 | c.621T>C (p.His207=)
| gnomAD v4 |
16 | g.84031878A>T | CA396938383 | SLC38A8 | c.621T>A (p.His207Gln)
| |
16 | g.84031879T>A | CA396938387 | SLC38A8 | c.620A>T (p.His207Leu)
| |
16 | g.84031879T>C | CA396938406 | SLC38A8 | c.620A>G (p.His207Arg)
| gnomAD v4 |
16 | g.84031879T>G | CA396938403 | SLC38A8 | c.620A>C (p.His207Pro)
| |
16 | g.84031880G>A | CA8200165 | SLC38A8 | c.619C>T (p.His207Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031880G>C | CA396938412 | SLC38A8 | c.619C>G (p.His207Asp)
| dbSNP gnomAD v4 |
16 | g.84031880G= | CA2238382212 | SLC38A8 | c.619C= (p.His207=)
| |
16 | g.84031880G>T | CA396938420 | SLC38A8 | c.619C>A (p.His207Asn)
| |
16 | g.84031881G>A | CA496764410 | SLC38A8 | c.618C>T (p.Ser206=)
| gnomAD v4 |
16 | g.84031881G>C | CA496764409 | SLC38A8 | c.618C>G (p.Ser206=)
| |
16 | g.84031881G= | CA2238382213 | SLC38A8 | c.618C= (p.Ser206=)
| |
16 | g.84031881G>T | CA496764408 | SLC38A8 | c.618C>A (p.Ser206=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031882G>A | CA396938422 | SLC38A8 | c.617C>T (p.Ser206Phe)
| |
16 | g.84031882G>C | CA8200166 | SLC38A8 | c.617C>G (p.Ser206Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031882G= | CA2238382214 | SLC38A8 | c.617C= (p.Ser206=)
| |
16 | g.84031882G>T | CA396938431 | SLC38A8 | c.617C>A (p.Ser206Tyr)
| |
16 | g.84031883A>C | CA396938434 | SLC38A8 | c.616T>G (p.Ser206Ala)
| |
16 | g.84031883A>G | CA396938435 | SLC38A8 | c.616T>C (p.Ser206Pro)
| |
16 | g.84031883A>T | CA396938438 | SLC38A8 | c.616T>A (p.Ser206Thr)
| |
16 | g.84031884C>A | CA396938440 | SLC38A8 | c.615G>T (p.Glu205Asp)
| gnomAD v4 |
16 | g.84031884C>G | CA396938443 | SLC38A8 | c.615G>C (p.Glu205Asp)
| |
16 | g.84031884C>T | CA496764411 | SLC38A8 | c.615G>A (p.Glu205=)
| gnomAD v4 |
16 | g.84031885T>A | CA396938450 | SLC38A8 | c.614A>T (p.Glu205Val)
| |
16 | g.84031885T>C | CA396938446 | SLC38A8 | c.614A>G (p.Glu205Gly)
| |
16 | g.84031885T>G | CA396938448 | SLC38A8 | c.614A>C (p.Glu205Ala)
| |
16 | g.84031886C>A | CA396938456 | SLC38A8 | c.613G>T (p.Glu205Ter)
| dbSNP gnomAD v2 |
16 | g.84031886C= | CA2238382215 | SLC38A8 | c.613G= (p.Glu205=)
| |
16 | g.84031886C>G | CA396938460 | SLC38A8 | c.613G>C (p.Glu205Gln)
| gnomAD v4 |
16 | g.84031886C>T | CA396938459 | SLC38A8 | c.613G>A (p.Glu205Lys)
| |
16 | g.84031887A= | CA2238382216 | SLC38A8 | c.612T= (p.Arg204=)
| |
16 | g.84031887A>C | CA496764412 | SLC38A8 | c.612T>G (p.Arg204=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031887A>G | CA496764413 | SLC38A8 | c.612T>C (p.Arg204=)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031887A>T | CA496764414 | SLC38A8 | c.612T>A (p.Arg204=)
| |
16 | g.84031888C>A | CA396938462 | SLC38A8 | c.611G>T (p.Arg204Leu)
| |
16 | g.84031888C= | CA2238382217 | SLC38A8 | c.611G= (p.Arg204=)
| |
16 | g.84031888C>G | CA8200168 | SLC38A8 | c.611G>C (p.Arg204Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031888C>T | CA8200167 | SLC38A8 | c.611G>A (p.Arg204His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031889G>A | CA8200169 | SLC38A8 | c.610C>T (p.Arg204Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.84031889G>C | CA396938465 | SLC38A8 | c.610C>G (p.Arg204Gly)
| dbSNP |
16 | g.84031889G= | CA2238382218 | SLC38A8 | c.610C= (p.Arg204=)
| |
16 | g.84031889G>T | CA396938466 | SLC38A8 | c.610C>A (p.Arg204Ser)
| |
16 | g.84031890C>A | CA496764415 | SLC38A8 | c.609G>T (p.Val203=)
| |
16 | g.84031890C>G | CA496764416 | SLC38A8 | c.609G>C (p.Val203=)
| |
16 | g.84031890C>T | CA496764417 | SLC38A8 | c.609G>A (p.Val203=)
| |
16 | g.84031891A= | CA2238382219 | SLC38A8 | c.608T= (p.Val203=)
| |
16 | g.84031891A>C | CA396938478 | SLC38A8 | c.608T>G (p.Val203Gly)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031891A>G | CA396938467 | SLC38A8 | c.608T>C (p.Val203Ala)
| |
16 | g.84031891A>T | CA396938468 | SLC38A8 | c.608T>A (p.Val203Glu)
| |
16 | g.84031892C>A | CA396938480 | SLC38A8 | c.607G>T (p.Val203Leu)
| |
16 | g.84031892C= | CA2238382220 | SLC38A8 | c.607G= (p.Val203=)
| |
16 | g.84031892C>G | CA285457083 | SLC38A8 | c.607G>C (p.Val203Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031892C>T | CA8200170 | SLC38A8 | c.607G>A (p.Val203Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031893G>A | CA8200171 | SLC38A8 | c.606C>T (p.Leu202=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031893G>C | CA8200172 | SLC38A8 | c.606C>G (p.Leu202=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031893G= | CA2238382221 | SLC38A8 | c.606C= (p.Leu202=)
| |
16 | g.84031893G>T | CA496764418 | SLC38A8 | c.606C>A (p.Leu202=)
| |
16 | g.84031894A= | CA2238382222 | SLC38A8 | c.605T= (p.Leu202=)
| |
16 | g.84031894A>C | CA396938498 | SLC38A8 | c.605T>G (p.Leu202Arg)
| |
16 | g.84031894A>G | CA396938493 | SLC38A8 | c.605T>C (p.Leu202Pro)
| dbSNP |
16 | g.84031894A>T | CA396938495 | SLC38A8 | c.605T>A (p.Leu202His)
| |
16 | g.84031895G>A | CA285457094 | SLC38A8 | c.604C>T (p.Leu202Phe)
| dbSNP |
16 | g.84031895G>C | CA8200173 | SLC38A8 | c.604C>G (p.Leu202Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031895G= | CA2238382223 | SLC38A8 | c.604C= (p.Leu202=)
| |
16 | g.84031895G>T | CA396938506 | SLC38A8 | c.604C>A (p.Leu202Ile)
| |
16 | g.84031896G>A | CA8200174 | SLC38A8 | c.603C>T (p.Gly201=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031896G>C | CA496764420 | SLC38A8 | c.603C>G (p.Gly201=)
| |
16 | g.84031896G= | CA2238382224 | SLC38A8 | c.603C= (p.Gly201=)
| |
16 | g.84031896G>T | CA496764419 | SLC38A8 | c.603C>A (p.Gly201=)
| gnomAD v4 |
16 | g.84031897C>A | CA396938509 | SLC38A8 | c.602G>T (p.Gly201Val)
| |
16 | g.84031897C>G | CA396938512 | SLC38A8 | c.602G>C (p.Gly201Ala)
| |
16 | g.84031897C>T | CA396938513 | SLC38A8 | c.602G>A (p.Gly201Asp)
| gnomAD v4 |