Patient | Exon/Intron | Nucleotide change | Amino acid change | Parent origin of the mutation | Gender | Length of aganglionic segment | Ref. |
---|---|---|---|---|---|---|---|
HSCR 193 | 2 | c.287A > C | p.Tyr96Ser | Mother | Female | Not Available | -- |
HSCR 133 | 3 | c.466 G > T | p.Ala156Ser | De novo | Female | S-HSCR | -- |
HSCR 166 | 5 | c.937 C > T | p.Arg313Trp | Mother | Male | Not Available | -- |
HSCR V135 | 5 | c.988insC | p.R330PfsX353 | Mother | Male | S-HSCR | -- |
HSCR 223 | 5 | c.1042 C > T | p.Arg348Trp | Mother | Male | Not Available | -- |
HSCR 109 | 6 | c.1118 C > T | p.Ala373Val | Father | Female | S-HSCR | [7] |
HSCR 217 | 6 | c.1118 C > T | p.Ala373Val | Mother | Male | S-HSCR | [7] |
HSCR 220 | 6 | c.1118 C > T | p.Ala373Val | Mother | Male | S-HSCR | [7] |
HSCR 99 | 7 | c.1267G > A | p.Gly423Arg | Mother | Female | S-HSCR | -- |
HSCR V67 | 7 | c.1325T > C | p. Leu442Pro | Mother | Male | Not Available | -- |
HSCR 187 | 8 | c.1627 T > A | p.Trp543Arg | De novo | Female | S-HSCR | -- |
HSCR 260 | 10 | c.1859G > A | p.Cys620Tyr | Father | Male | L-HSCR | -- |
HSCR V24 | 14 | c.2459G > A | p. Arg820His | De novo | Male | Not Available | -- |
HSCR 204 | 17 | c.2858 C > T | p.Pro953Leu | Mother | Male | S-HSCR | -- |
HSCR 278 | 18 | c.2944 C > T | p.Arg982Cys | Not Available | Male | S-HSCR | [19] |
HSCR V22 | 18 | c.2944 C > T | p.Arg982Cys | Father | Male | Not Available | [19] |
HSCR 15 | 18 | c. 2975 C > T | p.Pro992Leu | De novo | Male | L-HSCR | -- |
HSCR 151 | 19 | c.3185 A > G | p.Tyr1062Cys | Mother | Female | S-HSCR | [20] |
HSCR 198 | 19 | c.3185 A > G | p.Tyr1062Cys | Father | Male | Not Available | [20] |
HSCR 278 | 20 | c*4delTCTTinsAAA | NA | Male | S-HSCR | -- |